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Tytuł :
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
Autorzy :
Tripathy R; Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Leca I; Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
van Dijk T; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
Weiss J; Amsterdam UMC, Vrije Universiteit Amsterdam, Clinical Genetics, De Boelelaan 1117, Amsterdam, the Netherlands.
van Bon BW; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
Sergaki MC; Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Gstrein T; Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Breuss M; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA.
Tian G; Department of Biochemistry & Molecular Pharmacology, NYU Langone Medical Center, New York, NY 10016, USA.
Bahi-Buisson N; Université Paris Descartes, Institut Cochin Hôpital Cochin, 75014 Paris, France.
Paciorkowski AR; Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA.
Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Oxford, UK, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Wenninger-Weinzierl A; Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Martinez-Reza MF; Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Landler L; Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria.
Lise S; NIHR Oxford Biomedical Research Centre, Oxford, UK, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Taylor JC; NIHR Oxford Biomedical Research Centre, Oxford, UK, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
Terrone G; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, 80131 Naples, Italy.
Vitiello G; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, 80131 Naples, Italy.
Del Giudice E; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, 80131 Naples, Italy.
Brunetti-Pierri N; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, 80131 Naples, Italy; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Naples, Italy.
D'Amico A; Department of Advanced Medical Sciences, University of Naples Federico II, 80131 Naples, Italy.
Reymond A; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.
Voisin N; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.
Bernstein JA; Stanford School of Medicine, Stanford, CA 94305, USA.
Farrelly E; Stanford Children's Health, Palo Alto, CA 94304, USA.
Kini U; Department of Clinical Genetics, Oxford Regional Genetics Service, Churchill Hospital, Oxford OX3 7LJ, UK.
Leonard TA; Center for Medical Biochemistry, Medical University of Vienna, Max F. Perutz Laboratories, Vienna Biocenter (VBC), Campus Vienna Biocenter 5, 1030 Vienna, Austria.
Valence S; Centre de référence des Malformations et Maladies Congénitales du Cervelet et Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, 75012 Paris, France.
Burglen L; Centre de référence des Malformations et Maladies Congénitales du Cervelet et Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, 75012 Paris, France.
Armstrong L; Provincial Medical Genetics Programme, BCWH and Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Aldinger KA; Seattle Children's Research Institute, Center for Integrative Brain Research, Seattle, WA 98101, USA.
Dobyns WB; Seattle Children's Research Institute, Center for Integrative Brain Research, Seattle, WA 98101, USA.
Mirzaa G; Seattle Children's Research Institute, Center for Integrative Brain Research, Seattle, WA 98101, USA.
Pierson TM; Departments of Pediatrics and Neurology & the Board of Governors Regenerative Medicine, Institute Cedars Sinai Medical Center, Los Angeles, CA 90048, USA.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
Chelly J; Service de Diagnostic Génétique, Hôpital Civil de Strasbourg, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France.
Cowan NJ; Department of Biochemistry & Molecular Pharmacology, NYU Langone Medical Center, New York, NY 10016, USA.
Keays DA; Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria. Electronic address: .
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Źródło :
Neuron [Neuron] 2018 Dec 19; Vol. 100 (6), pp. 1354-1368.e5. Date of Electronic Publication: 2018 Nov 15.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4199 (Electronic) Linking ISSN: 08966273 NLM ISO Abbreviation: Neuron
MeSH Terms :
Agenesis of Corpus Callosum/*genetics
Cerebellum/*abnormalities
Gene Expression Regulation, Developmental/*genetics
Malformations of Cortical Development/*genetics
Microtubule-Associated Proteins/*genetics
Mutation/*genetics
Nervous System Malformations/*genetics
Agenesis of Corpus Callosum/complications ; Agenesis of Corpus Callosum/diagnostic imaging ; Agenesis of Corpus Callosum/pathology ; Animals ; Animals, Newborn ; Apoptosis/genetics ; Brain/metabolism ; Brain/pathology ; Cells, Cultured ; Cerebellum/diagnostic imaging ; Child ; Developmental Disabilities/complications ; Developmental Disabilities/diagnostic imaging ; Developmental Disabilities/genetics ; Disease Models, Animal ; Embryo, Mammalian ; Female ; Humans ; Male ; Malformations of Cortical Development/complications ; Malformations of Cortical Development/diagnostic imaging ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Microtubule-Associated Proteins/deficiency ; Nerve Tissue Proteins/metabolism ; Nervous System Malformations/complications ; Nervous System Malformations/diagnostic imaging ; PAX6 Transcription Factor/metabolism
SCR Disease Name :
Cerebellar Hypoplasia
Czasopismo naukowe
Tytuł :
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
Autorzy :
Lemmers RJLF; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
van der Vliet PJ; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
Vreijling JP; Laboratory for Diagnostic Genome Analysis, Leiden University Medical Center, Leiden, RC, Netherlands.
Henderson D; Neuromuscular Disease Unit, Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
van der Stoep N; Laboratory for Diagnostic Genome Analysis, Leiden University Medical Center, Leiden, RC, Netherlands.
Voermans N; Neuromuscular Centre Nijmegen, Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, HB, Netherlands.
van Engelen B; Neuromuscular Centre Nijmegen, Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, HB, Netherlands.
Baas F; Laboratory for Diagnostic Genome Analysis, Leiden University Medical Center, Leiden, RC, Netherlands.
Sacconi S; Centre de Référence des Maladies Neuromusculaires and CNRS UMR6543, Nice University Hospital, Nice, France.
Tawil R; Neuromuscular Disease Unit, Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2018 Oct 15; Vol. 27 (20), pp. 3488-3497.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum. Mol. Genet. Subsets: MEDLINE
MeSH Terms :
Mutation*
Repetitive Sequences, Nucleic Acid*
Chromosomal Proteins, Non-Histone/*genetics
Homeodomain Proteins/*genetics
Muscular Dystrophy, Facioscapulohumeral/*genetics
Cell Line ; Chromatin/metabolism ; DNA Mutational Analysis ; Female ; Gene Expression Regulation ; Genomic Structural Variation ; Humans ; Male ; Muscular Dystrophy, Facioscapulohumeral/metabolism ; Pedigree
Czasopismo naukowe
Tytuł :
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Autorzy :
Marin-Valencia I; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA.
Gerondopoulos A; Department of Biochemistry, University of Oxford, Oxford OX1 3QU, UK.
Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, 12311 Cairo, Egypt.
Ben-Omran T; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, 3050 Doha, Qatar.
Almureikhi M; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, 3050 Doha, Qatar.
Demir E; Gazi University, Department of Pediatric Neurology, 06500 Ankara, Turkey.
Guemez-Gamboa A; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA.
Gregor A; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA.
Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, 12311 Cairo, Egypt.
Appelhof B; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
Roosing S; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA.
Musaev D; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA.
Rosti B; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA.
Wirth S; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA.
Stanley V; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
Barr FA; Department of Biochemistry, University of Oxford, Oxford OX1 3QU, UK.
Gleeson JG; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2017 Sep 07; Vol. 101 (3), pp. 441-450. Date of Electronic Publication: 2017 Aug 17.
Typ publikacji :
Journal Article
Journal Info :
Publisher: University of Chicago Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Homozygote*
Mutation*
Cerebellar Diseases/*genetics
GTPase-Activating Proteins/*genetics
Microcephaly/*genetics
Adolescent ; Animals ; Cerebellar Diseases/pathology ; Child ; Child, Preschool ; Female ; HeLa Cells ; Humans ; Male ; Microcephaly/pathology ; Pedigree ; Phenotype ; Zebrafish/genetics ; Zebrafish/growth & development
SCR Disease Name :
Pontocerebellar Hypoplasia
Czasopismo naukowe
Tytuł :
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.
Autorzy :
van Dijk T; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Rudnik-Schöneborn S; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Institute of Human Genetics, RWTH Aachen University, Aachen, Germany.
Senderek J; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany.
Hajmousa G; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Mei H; Sequencing Analysis Support Core, Leiden University Medical Center, Leiden, The Netherlands.
Dusl M; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany.
Aronica E; Department of (Neuro) Pathology, Academic Medical Center, Amsterdam, The Netherlands.
Barth P; Department of Pediatric Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Baas F; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
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Źródło :
Brain : a journal of neurology [Brain] 2017 Aug 01; Vol. 140 (8), pp. e46.
Typ publikacji :
Letter
Journal Info :
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: Core Clinical (AIM); MEDLINE
MeSH Terms :
Cerebellar Diseases/*genetics
Mitochondrial Proteins/*genetics
Muscular Atrophy, Spinal/*genetics
Mutation/*genetics
Phosphate Transport Proteins/*genetics
Cerebellar Diseases/diagnosis ; Child ; Female ; Humans ; Male ; Muscular Atrophy, Spinal/diagnosis ; Netherlands
SCR Disease Name :
Pontocerebellar Hypoplasia
Opinia redakcyjna
Tytuł :
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Autorzy :
Lardelli RM; University of California San Diego, La Jolla, California, USA.
Schaffer AE; University of California San Diego, La Jolla, California, USA.; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.; Department of Cellular and Molecular Medicine, Stem Cell Program and Institute for Genomic Medicine, University of California San Diego, La Jolla, California, USA.
Eggens VR; Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands.
Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Grainger S; Department of Cellular and Molecular Medicine, University of California San Diego, La Jolla, California, USA.
Sathe S; Department of Cellular and Molecular Medicine, Stem Cell Program and Institute for Genomic Medicine, University of California San Diego, La Jolla, California, USA.
Van Nostrand EL; Department of Cellular and Molecular Medicine, Stem Cell Program and Institute for Genomic Medicine, University of California San Diego, La Jolla, California, USA.
Schlachetzki Z; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Rosti B; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Akizu N; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Scott E; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Silhavy JL; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Heckman LD; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Rosti RO; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Dikoglu E; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Gregor A; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Guemez-Gamboa A; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Musaev D; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Mande R; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Widjaja A; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Shaw TL; University of California San Diego, La Jolla, California, USA.
Markmiller S; Department of Cellular and Molecular Medicine, Stem Cell Program and Institute for Genomic Medicine, University of California San Diego, La Jolla, California, USA.
Marin-Valencia I; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
Davies JH; Department of Paediatric Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
de Meirleir L; Pediatric Neurology and Metabolic Diseases, Universitair Ziekenhuis Brussels, Vrije Universiteit Brussel, Brussels, Belgium.
Kayserili H; Medical Genetics Department, Koc University School of Medicine, Istanbul, Turkey.
Altunoglu U; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul Turkey.
Freckmann ML; Department of Clinical Genetics, The Canberra Hospital, Woden, Australian Capital Territory, Australia.
Warwick L; Australian Capital Territory Genetic Service, The Canberra Hospital, Canberra City, Australian Capital Territory, Australia.
Chitayat D; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
Blaser S; Division of Neuroradiology, Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Ontario, Canada.
Çağlayan AO; Department of Medical Genetics, School of Medicine, Istanbul Bilim University, Istanbul, Turkey.; Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Bilguvar K; Department of Genetics, Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, Connecticut, USA.
Per H; Division of Pediatric Neurology, Department of Pediatrics, Erciyes University School of Medicine, Kayseri, Turkey.
Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Christesen HT; Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
Kibaek M; Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
Manchester D; Department of Pediatrics, Clinical Genetics and Metabolism, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.
Matsumoto N; Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan.
Muramatsu K; Department of Pediatrics, Gunma University School of Medicine, Showa-machi, Maebashi City, Japan.
Saitsu H; Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Foulds N; Southampton University Hospitals Trust, Southampton, UK.
Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
Chi NC; UCSD Cardiology, University of California San Diego, La Jolla, California, USA.
Traver D; Department of Cellular and Molecular Medicine, University of California San Diego, La Jolla, California, USA.
Spaccini L; Clinical Genetics Unit, Department of Women, Mother and Neonates, 'Vittore Buzzi' Children's Hospital, Istituti Clinici di Perfezionamento, Milan, Italy.
Bova SM; Child Neurology Unit, Department of Pediatrics, 'Vittore Buzzi' Children Hospital, Istituti Clinici di Perfezionamento, Milan, Italy.
Gabriel SB; Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Gunel M; Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Valente EM; Section of Neurosciences, Department of Medicine and Surgery, University of Salerno, Salerno, Italy.
Nassogne MC; Pediatric Neurology, Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium.
Bennett EJ; University of California San Diego, La Jolla, California, USA.
Yeo GW; Department of Cellular and Molecular Medicine, Stem Cell Program and Institute for Genomic Medicine, University of California San Diego, La Jolla, California, USA.; Department of Physiology, National University of Singapore and Molecular Engineering Laboratory, A*STAR, Singapore.
Baas F; Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands.
Lykke-Andersen J; University of California San Diego, La Jolla, California, USA.
Gleeson JG; University of California San Diego, La Jolla, California, USA.; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.
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Źródło :
Nature genetics [Nat Genet] 2017 Mar; Vol. 49 (3), pp. 457-464. Date of Electronic Publication: 2017 Jan 16.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat. Genet. Subsets: MEDLINE
MeSH Terms :
Cerebellar Diseases/*genetics
Exonucleases/*genetics
Mutation/*genetics
Nuclear Proteins/*genetics
RNA, Small Nuclear/*genetics
Alleles ; Animals ; Female ; Humans ; Male ; Mice ; Neurodegenerative Diseases/genetics ; RNA, Messenger/genetics ; Spliceosomes/genetics ; Zebrafish
SCR Disease Name :
Pontocerebellar Hypoplasia
Czasopismo naukowe
Tytuł :
LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability.
Autorzy :
Mathijssen IB; Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands; †The Rotterdam Eye Hospital, Rotterdam, the Netherlands; ‡Rivas Zorggroep, Vianen, the Netherlands; §Department of Genome Analysis, Academic Medical Center, Amsterdam, the Netherlands; ¶The Netherlands Institute for Neurosciences (NIN-KNAW), Amsterdam, the Netherlands; and **Department of Ophthalmology, Academic Medical Center, Amsterdam, the Netherlands.
Florijn RJ
van den Born LI
Zekveld-Vroon RC
Ten Brink JB
Plomp AS
Baas F
Meijers-Heijboer H
Bergen AA
van Schooneveld MJ
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Źródło :
Retina (Philadelphia, Pa.) [Retina] 2017 Jan; Vol. 37 (1), pp. 161-172.
Typ publikacji :
Journal Article; Observational Study
Journal Info :
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8309919 Publication Model: Print Cited Medium: Internet ISSN: 1539-2864 (Electronic) Linking ISSN: 0275004X NLM ISO Abbreviation: Retina (Philadelphia, Pa.) Subsets: MEDLINE
MeSH Terms :
Mutation*
Eye Proteins/*genetics
Membrane Proteins/*genetics
Nerve Tissue Proteins/*genetics
Adolescent ; Adult ; Aged ; Electroretinography ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Phenotype ; Retinitis Pigmentosa/genetics ; Retinitis Pigmentosa/pathology ; Retinitis Pigmentosa/physiopathology ; Tomography, Optical Coherence ; Vision Disorders/etiology ; Vision Disorders/physiopathology ; Visual Acuity/physiology ; Visual Fields/physiology ; Young Adult
SCR Disease Name :
Retinitis Pigmentosa 12
Czasopismo naukowe
Tytuł :
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Autorzy :
Flex E; Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy.
Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy.
Cecchetti S; Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome 00161, Italy.
Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA.
Au MG; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Capuano A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy.
Piermarini E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy.
Ivanova AA; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA.
Francis JW; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA.
Chillemi G; CINECA, SCAI-SuperComputing Applications and Innovation Department, Rome 00185, Italy.
Chandramouli B; Scuola Normale Superiore, 56126 Pisa, Italy.
Carpentieri G; Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy; Dipartimento di Medicina Sperimentale, Sapienza Università di Roma, Rome 00161, Italy.
Haaxma CA; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 1105, the Netherlands.
Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Centro di Ricerca per gli alimenti e la nutrizione, CREA, Rome 00178, Italy.
Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy.
Douglas GV; GeneDx, Gaithersburg, MD 20877, USA.
Levine K; GeneDx, Gaithersburg, MD 20877, USA.
Sferra A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy.
Dentici ML; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy.
Pfundt RR; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 1105, the Netherlands.
Le Pichon JB; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, MO 64108, USA.
Farrow E; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Baas F; Department of Genome Analysis, Academic Medical Center, Amsterdam 1105, the Netherlands.
Piemonte F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy.
Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy.
Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Saunders CJ; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA.
Bertini E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy.
Kahn RA; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA.
Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 1105, the Netherlands.
Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2016 Oct 06; Vol. 99 (4), pp. 962-973. Date of Electronic Publication: 2016 Sep 22.
Typ publikacji :
Journal Article
Journal Info :
Publisher: University of Chicago Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Alleles*
Mutation*
Protein Folding*
Brain Diseases/*genetics
Microtubule-Associated Proteins/*genetics
Microtubules/*metabolism
Tubulin/*metabolism
Adolescent ; Age of Onset ; Brain/metabolism ; Brain/pathology ; Brain Diseases/pathology ; Cell Proliferation ; Child, Preschool ; Female ; Fibroblasts ; Humans ; Infant ; Male ; Microtubule-Associated Proteins/metabolism ; Microtubules/pathology ; Molecular Chaperones/genetics ; Molecular Chaperones/metabolism ; Protein Binding ; Spindle Apparatus/metabolism ; Spindle Apparatus/pathology ; Tubulin/chemistry
Czasopismo naukowe
Tytuł :
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
Autorzy :
Kenna KP; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
van Doormaal PT; Department of Neurology Brain Centre, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, the Netherlands.
Dekker AM; Department of Neurology Brain Centre, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, the Netherlands.
Ticozzi N; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy.
Kenna BJ; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
Diekstra FP; Department of Neurology Brain Centre, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, the Netherlands.
van Rheenen W; Department of Neurology Brain Centre, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, the Netherlands.
van Eijk KR; Department of Neurology Brain Centre, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, the Netherlands.
Jones AR; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
Keagle P; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
Shatunov A; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
Sproviero W; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
Smith BN; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
van Es MA; Department of Neurology Brain Centre, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, the Netherlands.
Topp SD; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
Kenna A; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
Miller JW; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
Fallini C; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
Tiloca C; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Doctoral School in Molecular Medicine, Department of Sciences and Biomedical Technologies, Università degli Studi di Milano, Milan, Italy.
McLaughlin RL; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland.
Vance C; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
Troakes C; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
Colombrita C; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy.
Mora G; Salvatore Maugeri Foundation, IRCSS, Scientific Institute of Milano, Milan, Italy.
Calvo A; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.
Verde F; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy.
Al-Sarraj S; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
King A; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
Calini D; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy.
de Belleroche J; Neurogenetics Group, Division of Brain Sciences, Imperial College London, London, UK.
Baas F; Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.
van der Kooi AJ; Department of Neurogenetics and Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.
de Visser M; Department of Neurogenetics and Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.
Ten Asbroek AL; Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.
Sapp PC; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
McKenna-Yasek D; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
Polak M; Department of Neurology, Emory University, Atlanta, Georgia, USA.
Asress S; Department of Neurology, Emory University, Atlanta, Georgia, USA.
Muñoz-Blanco JL; Unidad de ELA, Instituto de Investigación Hospital Gregorio Marañón de Madrid, Madrid, Spain.
Strom TM; Institute of Human Genetics, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany.
Meitinger T; Institute of Human Genetics, Technische Universität München, Munich, Germany.
Morrison KE; Faculty of Medicine, University of Southampton, Southampton, UK.
Lauria G; 3rd Neurology Unit, Motor Neuron Diseases Center, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.
Williams KL; Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
Leigh PN; Trafford Centre for Medical Research, Brighton and Sussex Medical School, Falmer, UK.
Nicholson GA; Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.; ANZAC Research Institute, Concord Hospital, University of Sydney, Sydney, New South Wales, Australia.
Blair IP; Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
Leblond CS; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
Dion PA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
Rouleau GA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
Pall H; Institute of Clinical Studies, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK.; Department of Neurology, Queen Elizabeth Hospital Birmingham, Edgbaston, Birmingham, UK.
Shaw PJ; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Turner MR; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Talbot K; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Taroni F; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.
Boylan KB; Department of Neurology, Mayo Clinic Florida, Jacksonville, Florida, USA.
Van Blitterswijk M; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
Rademakers R; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
Esteban-Pérez J; Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) U-723, Madrid, Spain.
García-Redondo A; Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) U-723, Madrid, Spain.
Van Damme P; Laboratory of Neurobiology, Department of Neurosciences, KU Leuven and Vesalius Research Centre, VIB, Leuven, Belgium.; Department of Neurology, University Hospitals, Leuven, Belgium.
Robberecht W; Laboratory of Neurobiology, Department of Neurosciences, KU Leuven and Vesalius Research Centre, VIB, Leuven, Belgium.; Department of Neurology, University Hospitals, Leuven, Belgium.
Chio A; 'Rita Levi Montalcini' Department of Neuroscience, ALS Centre, University of Torino, Turin, Italy.
Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.
Drepper C; Institute of Clinical Neurobiology, University Hospital Würzburg, Würzburg, Germany.; Department of Child and Adolescent Psychiatry, University Hospital of Würzburg, Würzburg, Germany.
Sendtner M; Institute of Clinical Neurobiology, University Hospital Würzburg, Würzburg, Germany.
Ratti A; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy.
Glass JD; Department of Neurology, Emory University, Atlanta, Georgia, USA.
Mora JS; ALS Unit/Neurology, Hospital San Rafael, Madrid, Spain.
Basak NA; NDAL, Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.
Hardiman O; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland.
Ludolph AC; Neurology Department, Ulm University, Ulm, Germany.
Andersen PM; Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden.
Weishaupt JH; Neurology Department, Ulm University, Ulm, Germany.
Brown RH Jr; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
Al-Chalabi A; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
Silani V; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy.
Shaw CE; Maurice Wohl Clinical Neuroscience Institute, King's College London, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, London, UK.
van den Berg LH; Department of Neurology Brain Centre, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, the Netherlands.
Veldink JH; Department of Neurology Brain Centre, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, the Netherlands.
Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
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Corporate Authors :
SLAGEN Consortium
Źródło :
Nature genetics [Nat Genet] 2016 Sep; Vol. 48 (9), pp. 1037-42. Date of Electronic Publication: 2016 Jul 25.
Typ publikacji :
Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat. Genet. Subsets: MEDLINE
MeSH Terms :
Genetic Predisposition to Disease*
Amyotrophic Lateral Sclerosis/*genetics
Mutation/*genetics
NIMA-Related Kinase 1/*genetics
Amyotrophic Lateral Sclerosis/epidemiology ; Case-Control Studies ; Cohort Studies ; Exome/genetics ; Genetic Association Studies ; Humans ; Netherlands/epidemiology
Czasopismo naukowe
Tytuł :
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Autorzy :
Tan-Sindhunata MB; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Mathijssen IB; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Smit M; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Baas F; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands.
de Vries JI; Department of Obstetrics and Gynaecology, Research Institute MOVE, VU University Medical Center, Amsterdam, The Netherlands.
van der Voorn JP; Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands.
Kluijt I; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Hagen MA; Department of Obstetrics and Gynaecology, Research Institute MOVE, VU University Medical Center, Amsterdam, The Netherlands.
Blom EW; Department of Clinical Genetics, MUMC, Maastricht, The Netherlands.
Sistermans E; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Meijers-Heijboer H; 1] Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands [2] Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Waisfisz Q; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Weiss MM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Groffen AJ; 1] Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands [2] Department of Functional Genomics, Center for Neurogenomics and Cognition Research, VU University, Amsterdam, The Netherlands.
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Sep; Vol. 23 (9), pp. 1151-7. Date of Electronic Publication: 2014 Dec 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Founder Effect*
Mutation*
Arthrogryposis/*genetics
Motor Endplate/*genetics
Receptor Protein-Tyrosine Kinases/*genetics
Receptors, Cholinergic/*genetics
Alleles ; Amino Acid Sequence ; Arthrogryposis/diagnosis ; Arthrogryposis/pathology ; Base Sequence ; Female ; Fetus ; Gene Expression ; Gene Frequency ; Genes, Lethal ; Genetic Testing ; Homozygote ; Humans ; Male ; Molecular Sequence Data ; Motor Endplate/pathology ; Muscle Cells/metabolism ; Muscle Cells/pathology ; Netherlands ; Pedigree ; Prenatal Diagnosis ; Primary Cell Culture ; Receptors, Cholinergic/chemistry
SCR Disease Name :
Pena Shokeir syndrome, type 1
Czasopismo naukowe
Tytuł :
RELN rare variants in myoclonus-dystonia.
Autorzy :
Groen JL; Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Ritz K
Jalalzadeh H
van der Salm SM
Jongejan A
Mook OR
Haagmans MA
Zwinderman AH
Motazacker MM
Hennekam RC
Baas F
Tijssen MA
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2015 Mar; Vol. 30 (3), pp. 415-9. Date of Electronic Publication: 2015 Feb 04.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov. Disord. Subsets: MEDLINE
MeSH Terms :
Family Health*
Cell Adhesion Molecules, Neuronal/*genetics
Dystonic Disorders/*genetics
Extracellular Matrix Proteins/*genetics
Mutation/*genetics
Nerve Tissue Proteins/*genetics
Serine Endopeptidases/*genetics
Adolescent ; Adult ; Aged ; Cohort Studies ; DNA Mutational Analysis ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Young Adult
SCR Disease Name :
Myoclonic dystonia
Czasopismo naukowe
Tytuł :
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
Autorzy :
Scoto M; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Rossor AM; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Harms MB; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Cirak S; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Calissano M; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Robb S; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Manzur AY; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Martínez Arroyo A; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Rodriguez Sanz A; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Mansour S; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Fallon P; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Hadjikoumi I; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Klein A; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Yang M; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
De Visser M; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Overweg-Plandsoen WC; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Baas F; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Taylor JP; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Benatar M; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Connolly AM; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Al-Lozi MT; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Nixon J; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
de Goede CG; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Foley AR; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Mcwilliam C; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Pitt M; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Sewry C; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Phadke R; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Hafezparast M; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Chong WK; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Mercuri E; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Baloh RH; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Reilly MM; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.
Muntoni F; From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK. f..
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Źródło :
Neurology [Neurology] 2015 Feb 17; Vol. 84 (7), pp. 668-79. Date of Electronic Publication: 2015 Jan 21.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: Core Clinical (AIM); MEDLINE
MeSH Terms :
Mutation*
Cytoplasmic Dyneins/*genetics
Muscular Atrophy, Spinal/*genetics
Adolescent ; Adult ; Aged, 80 and over ; Brain/pathology ; Child ; Child, Preschool ; Cohort Studies ; Family ; Humans ; Infant ; Leg/pathology ; Leg/physiopathology ; Middle Aged ; Muscular Atrophy, Spinal/pathology ; Muscular Atrophy, Spinal/physiopathology ; Phenotype ; Young Adult
Czasopismo naukowe
Tytuł :
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
Autorzy :
Groen JL; Department of Neurology, Department of Genome Analysis and Department of Neurosurgery, Leiden University Medical Center, Leiden, The Netherlands.
Andrade A; Department of Neuroscience, Brown University, Providence RI 02912, USA.
Ritz K; Department of Genome Analysis and.
Jalalzadeh H; Department of Neurology, Department of Genome Analysis and.
Haagmans M; Department of Genome Analysis and.
Bradley TE; Department of Genome Analysis and.
Jongejan A; Bioinformatics Laboratory, Clinical Epidemiology, Biostatistics and Bioinformatics and.
Verbeek DS; Department of Genetics, University of Groningen and.
Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
Denome S; Department of Neuroscience, Brown University, Providence RI 02912, USA.
Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Lipscombe D; Department of Neuroscience, Brown University, Providence RI 02912, USA.
Baas F; Department of Neurology.
Tijssen MA; Department of Neurology, University of Groningen, Groningen, The Netherlands and .
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Źródło :
Human molecular genetics [Hum Mol Genet] 2015 Feb 15; Vol. 24 (4), pp. 987-93. Date of Electronic Publication: 2014 Oct 08.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum. Mol. Genet. Subsets: MEDLINE
MeSH Terms :
Genetic Association Studies*
Mutation*
Calcium Channels, N-Type/*genetics
Dystonic Disorders/*genetics
Action Potentials ; Calcium Channels, N-Type/metabolism ; Calcium Signaling ; Dystonic Disorders/diagnosis ; Exome ; Female ; Genetic Linkage ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Patch-Clamp Techniques ; Pedigree ; Phenotype
SCR Disease Name :
Myoclonic dystonia
Czasopismo naukowe
Tytuł :
A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations.
Autorzy :
Beeldman E; a Department of Neurology , The Netherlands.
van der Kooi AJ; a Department of Neurology , The Netherlands.
de Visser M; a Department of Neurology , The Netherlands.
van Maarle MC; b Clinical Genetics, Academic Medical Centre, University of Amsterdam , The Netherlands.
van Ruissen F; b Clinical Genetics, Academic Medical Centre, University of Amsterdam , The Netherlands.
Baas F; a Department of Neurology , The Netherlands.; b Clinical Genetics, Academic Medical Centre, University of Amsterdam , The Netherlands.
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Źródło :
Amyotrophic lateral sclerosis & frontotemporal degeneration [Amyotroph Lateral Scler Frontotemporal Degener] 2015; Vol. 16 (5-6), pp. 410-1. Date of Electronic Publication: 2015 Jul 23.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Taylor & Francis Country of Publication: England NLM ID: 101587185 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2167-9223 (Electronic) Linking ISSN: 21678421 NLM ISO Abbreviation: Amyotroph Lateral Scler Frontotemporal Degener Subsets: MEDLINE
MeSH Terms :
Family Health*
Motor Neuron Disease/*genetics
Mutation/*genetics
Transcription Factor TFIIIA/*genetics
Adult ; Aged ; Electromyography ; Female ; Humans ; Male ; Netherlands ; Young Adult
Czasopismo naukowe
Tytuł :
Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort.
Autorzy :
Cohn-Hokke PE; Department of Clinical Genetics, VU University Medical Centre, De Boelelaan 1118, 1081 HZ, Amsterdam, The Netherlands, .
Wong TH
Rizzu P
Breedveld G
van der Flier WM
Scheltens P
Baas F
Heutink P
Meijers-Heijboer EJ
van Swieten JC
Pijnenburg YA
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Źródło :
Journal of neurology [J Neurol] 2014 Nov; Vol. 261 (11), pp. 2085-92. Date of Electronic Publication: 2014 Aug 10.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J. Neurol. Subsets: MEDLINE
MeSH Terms :
Cyclic AMP-Dependent Protein Kinase RIbeta Subunit/*genetics
Dementia/*diagnosis
Dementia/*genetics
Mutation/*genetics
Adult ; Age of Onset ; Aged ; Cohort Studies ; Dementia/epidemiology ; Female ; Humans ; Male ; Middle Aged ; Netherlands/epidemiology
Czasopismo naukowe
Tytuł :
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Autorzy :
Smith BN; Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, London, SE5 8AF, UK.
Ticozzi N; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center - Università degli Studi di Milano, 20122 Milan, Italy.
Fallini C; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Gkazi AS; Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, London, SE5 8AF, UK.
Topp S; Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, London, SE5 8AF, UK.
Kenna KP; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin 2, Republic of Ireland.
Scotter EL; Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, London, SE5 8AF, UK.
Kost J; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA; Department of Bioinformatics and Computational Biology, Worcester Polytechnic Institute, Worcester, MA 01609, USA.
Keagle P; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Miller JW; Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, London, SE5 8AF, UK.
Calini D; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center - Università degli Studi di Milano, 20122 Milan, Italy.
Vance C; Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, London, SE5 8AF, UK.
Danielson EW; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Troakes C; Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, London, SE5 8AF, UK.
Tiloca C; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy.
Al-Sarraj S; Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, London, SE5 8AF, UK.
Lewis EA; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
King A; Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, London, SE5 8AF, UK.
Colombrita C; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center - Università degli Studi di Milano, 20122 Milan, Italy.
Pensato V; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20133 Milan, Italy.
Castellotti B; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20133 Milan, Italy.
de Belleroche J; Neurogenetics Group, Division of Brain Sciences, Imperial College London, Hammersmith Hospital Campus, Burlington Danes Building, Du Cane Road, London, W12 0NN, UK.
Baas F; Department of Genome analysis and Neurogenetics, Academic Medical Centre, Amsterdam, The Netherlands.
ten Asbroek AL; Department of Genome analysis and Neurogenetics, Academic Medical Centre, Amsterdam, The Netherlands.
Sapp PC; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
McKenna-Yasek D; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
McLaughlin RL; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin 2, Republic of Ireland.
Polak M; Department of Neurology, Emory University, Atlanta, GA 30322, USA.
Asress S; Department of Neurology, Emory University, Atlanta, GA 30322, USA.
Esteban-Pérez J; Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), 28041 Madrid, Spain.
Muñoz-Blanco JL; Unidad de ELA, Instituto de Investigación Hospital Gregorio Marañón de Madrid, SERMAS, 28007 Madrid, Spain.
Simpson M; Department of Genetics and Molecular Medicine, King's College London, Tower Wing, Guy's Hospital, London, SE1 7EH, UK.
van Rheenen W; Department of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, 3508 GA Utrecht, the Netherlands.
Diekstra FP; Department of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, 3508 GA Utrecht, the Netherlands.
Lauria G; 3rd Neurology Unit, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20133 Milan, Italy.
Duga S; Department of Medical Biotechnology and Translational Medicine - Università degli Studi di Milano, 20133 Milan, Italy.
Corti S; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center - Università degli Studi di Milano, 20122 Milan, Italy; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Cereda C; Experimental Neurobiology Laboratory, IRCCS 'C. Mondino' National Neurological Institute, 27100 Pavia, Italy.
Corrado L; Department of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), 'A. Avogadro' University, 28100 Novara, Italy.
Sorarù G; Department of Neurosciences, University of Padova, 35122 Padova, Italy.
Morrison KE; School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, UK; Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, B15 2WB, UK.
Williams KL; Australian School of Advanced Medicine, Macquarie University, Sydney, NSW 2109, Australia.
Nicholson GA; Australian School of Advanced Medicine, Macquarie University, Sydney, NSW 2109, Australia; Northcott Neuroscience Laboratory, University of Sydney, ANZAC Research Institute, Sydney, NSW 2139, Australia.
Blair IP; Australian School of Advanced Medicine, Macquarie University, Sydney, NSW 2109, Australia.
Dion PA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, 3801 Montreal, QC H3A 2B4, Canada.
Leblond CS; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, 3801 Montreal, QC H3A 2B4, Canada.
Rouleau GA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, 3801 Montreal, QC H3A 2B4, Canada.
Hardiman O; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin 2, Republic of Ireland.
Veldink JH; Department of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, 3508 GA Utrecht, the Netherlands.
van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, 3508 GA Utrecht, the Netherlands.
Al-Chalabi A; Department of Clinical Neuroscience, Medical Research Council Centre for Neurodegeneration Research, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, WC2R 2LS, UK.
Pall H; School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, UK.
Shaw PJ; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, S10 2HQ, UK.
Turner MR; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.
Talbot K; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, OX3 9DU, UK.
Taroni F; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20133 Milan, Italy.
García-Redondo A; Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), 28041 Madrid, Spain.
Wu Z; Department of Bioinformatics and Computational Biology, Worcester Polytechnic Institute, Worcester, MA 01609, USA.
Glass JD; Department of Neurology, Emory University, Atlanta, GA 30322, USA.
Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20133 Milan, Italy.
Ratti A; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center - Università degli Studi di Milano, 20122 Milan, Italy.
Brown RH Jr; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Silani V; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center - Università degli Studi di Milano, 20122 Milan, Italy.
Shaw CE; Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, London, SE5 8AF, UK.
Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address: .
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Corporate Authors :
SLAGEN Consortium
Źródło :
Neuron [Neuron] 2014 Oct 22; Vol. 84 (2), pp. 324-31. Date of Electronic Publication: 2014 Oct 22.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4199 (Electronic) Linking ISSN: 08966273 NLM ISO Abbreviation: Neuron Subsets: MEDLINE
MeSH Terms :
Genetic Predisposition to Disease*
Amyotrophic Lateral Sclerosis/*genetics
Exome/*genetics
Mutation/*genetics
Tubulin/*genetics
Brain/metabolism ; Brain/pathology ; Humans ; Neurons/metabolism ; Sequence Analysis, DNA ; Tubulin/metabolism
Czasopismo naukowe
Tytuł :
Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors.
Autorzy :
Hulsebos TJ; Department of Genome Analysis, Academic Medical Center, Room K2-216, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands, .
Kenter S
Verhagen WI
Baas F
Flucke U
Wesseling P
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Źródło :
Acta neuropathologica [Acta Neuropathol] 2014 Sep; Vol. 128 (3), pp. 439-48. Date of Electronic Publication: 2014 Apr 17.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol. Subsets: MEDLINE
MeSH Terms :
Chromosomal Proteins, Non-Histone/*genetics
Chromosomal Proteins, Non-Histone/*metabolism
DNA-Binding Proteins/*genetics
DNA-Binding Proteins/*metabolism
Mutation/*genetics
Neurilemmoma/*genetics
Rhabdoid Tumor/*genetics
Transcription Factors/*genetics
Transcription Factors/*metabolism
Cell Line, Tumor ; DNA Mutational Analysis ; Female ; Gene Expression Regulation, Neoplastic/genetics ; Humans ; Male ; Middle Aged ; Mutagenesis, Site-Directed ; RNA, Messenger/metabolism ; Rhabdoid Tumor/pathology ; SMARCB1 Protein ; Transfection
Czasopismo naukowe
Tytuł :
SGCZ mutations are unlikely to be associated with myoclonus dystonia.
Autorzy :
Peall KJ; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine & Clinical Neurosciences, School of Medicine, Cardiff University, UK. Electronic address: .
Ritz K; Department of Genome Analysis, Amsterdam Medical Centre, Amsterdam, The Netherlands. Electronic address: .
Waite AJ; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine & Clinical Neurosciences, School of Medicine, Cardiff University, UK. Electronic address: .
Groen JL; Department of Genome Analysis, Amsterdam Medical Centre, Amsterdam, The Netherlands. Electronic address: .
Morris HR; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine & Clinical Neurosciences, School of Medicine, Cardiff University, UK. Electronic address: .
Baas F; Department of Genome Analysis, Amsterdam Medical Centre, Amsterdam, The Netherlands. Electronic address: f.baas@amc.uva.nl.
Blake DJ; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine & Clinical Neurosciences, School of Medicine, Cardiff University, UK. Electronic address: .
Tijssen MA; University of Groningen, Groningen, The Netherlands. Electronic address: .
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Źródło :
Neuroscience [Neuroscience] 2014 Jul 11; Vol. 272, pp. 88-91. Date of Electronic Publication: 2014 Apr 30.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Elsevier Science Country of Publication: United States NLM ID: 7605074 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-7544 (Electronic) Linking ISSN: 03064522 NLM ISO Abbreviation: Neuroscience Subsets: MEDLINE
MeSH Terms :
Dystonic Disorders/*genetics
Mutation/*genetics
Myoclonus/*genetics
Sarcoglycans/*genetics
Adolescent ; Adult ; Child ; Exons/genetics ; Female ; Humans ; Introns/genetics ; Male ; Middle Aged ; Young Adult
SCR Disease Name :
Myoclonic dystonia
Czasopismo naukowe
Tytuł :
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.
Autorzy :
Smith BN; Department of Clinical Neurosciences, MRC Centre for Neurodegeneration Research, Institute of Psychiatry, Kings College London, London, UK.
Newhouse S
Shatunov A
Vance C
Topp S
Johnson L
Miller J
Lee Y
Troakes C
Scott KM
Jones A
Gray I
Wright J
Hortobágyi T
Al-Sarraj S
Rogelj B
Powell J
Lupton M
Lovestone S
Sapp PC
Weber M
Nestor PJ
Schelhaas HJ
Asbroek AA
Silani V
Gellera C
Taroni F
Ticozzi N
Van den Berg L
Veldink J
Van Damme P
Robberecht W
Shaw PJ
Kirby J
Pall H
Morrison KE
Morris A
de Belleroche J
Vianney de Jong JM
Baas F
Andersen PM
Landers J
Brown RH Jr
Weale ME
Al-Chalabi A
Shaw CE
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Jan; Vol. 21 (1), pp. 102-8. Date of Electronic Publication: 2012 Jun 13.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Founder Effect*
Mutation*
Amyotrophic Lateral Sclerosis/*genetics
Frontotemporal Dementia/*genetics
Proteins/*genetics
Age of Onset ; Amyotrophic Lateral Sclerosis/epidemiology ; C9orf72 Protein ; Cohort Studies ; Europe/epidemiology ; Frontotemporal Dementia/epidemiology ; Gene Frequency ; Genomic Instability ; Haplotypes ; Humans ; Polymorphism, Single Nucleotide ; Repetitive Sequences, Nucleic Acid
Czasopismo naukowe
Tytuł :
THAP1 mutations are infrequent in spasmodic dysphonia.
Autorzy :
Groen JL
Yildirim E
Ritz K
Baas F
van Hilten JJ
van der Meulen FW
Langeveld TP
Tijssen MA
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2011 Aug 15; Vol. 26 (10), pp. 1952-4. Date of Electronic Publication: 2011 Apr 29.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov. Disord. Subsets: MEDLINE
MeSH Terms :
Apoptosis Regulatory Proteins/*genetics
DNA-Binding Proteins/*genetics
Dysphonia/*genetics
Mutation/*genetics
Nuclear Proteins/*genetics
Voice Disorders/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Anti-Dyskinesia Agents/therapeutic use ; Botulinum Toxins/therapeutic use ; Child ; Dysphonia/complications ; Dysphonia/drug therapy ; Female ; Humans ; Male ; Middle Aged ; Netherlands ; Voice Disorders/complications ; Young Adult
Raport
Tytuł :
TSEN54 mutations cause pontocerebellar hypoplasia type 5.
Autorzy :
Namavar Y; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Chitayat D
Barth PG
van Ruissen F
de Wissel MB
Poll-The BT
Silver R
Baas F
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2011 Jun; Vol. 19 (6), pp. 724-6. Date of Electronic Publication: 2011 Feb 02.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Mutation*
Endoribonucleases/*genetics
Olivopontocerebellar Atrophies/*genetics
Cerebellum/abnormalities ; Female ; Fetus ; Heterozygote ; Humans ; Olivary Nucleus/abnormalities ; Pedigree ; Pons/abnormalities ; Pregnancy
Czasopismo naukowe

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