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Tytuł :
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Autorzy :
Schottlaender LV; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, WC1N 1EH London, UK; Argentine National Scientific and Technological Research Council (CONICET), C1425FQB Buenos Aires, Argentina; FLENI Neurological Research Institute, C1428 AQK Buenos Aires, Argentina.
Abeti R; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK.
Jaunmuktane Z; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK; Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, Queen Square, London WC1N 3BG, UK.
Macmillan C; Department of Pediatrics, University of Chicago, Chicago, IL 60637, USA.
Chelban V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
O'Callaghan B; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
McKinley J; Department of Neurology, Dublin Neurological Institute at the Mater Misericordiae University Hospital, 57 Eccles St, Dublin 7 DO7W7XF, Ireland; Regional Neurosciences Centre, Royal Victoria Hospital, Belfast BT12 6BA, UK.
Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Athanasiou-Fragkouli A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Forbes R; Neurology Centre, Southern HSC Trust, Craigavon Area Hospital, Portadown BT63 5QQ, UK.
Soutar MPM; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Livingston JH; Paediatric Neurology, The Leeds Teaching Hospitals NHS Trust, Leeds General Infirmary, Leeds LS1 3EX, UK.
Kalmar B; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Swayne O; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
Hotton G; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
Pittman A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Mendes de Oliveira JR; Universidade Federal de Pernambuco, Departamento de Neuropsiquiatria, Recife 50670-901, Brazil.
de Grandis M; Aix-Marseille University, Inserm, CNRS, Institut Paoli-Calmettes, CRCM, 13009 Marseille, France.
Richard-Loendt A; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Launchbury F; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Althonayan J; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK.
McDonnell G; Regional Neurosciences Centre, Royal Victoria Hospital, Belfast BT12 6BA, UK.
Carr A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
Khan S; CENTOGENE AG, Rostock 18055, Germany.
Beetz C; CENTOGENE AG, Rostock 18055, Germany.
Bisgin A; Medical Genetics Department of Medical Faculty & AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Çukurova University, Adana 01330, Turkey.
Tug Bozdogan S; Medical Genetics Department of Medical Faculty & AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Çukurova University, Adana 01330, Turkey.
Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Torti E; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Greensmith L; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Giunti P; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK.
Morrison PJ; Centre for Cancer Research and Cell Biology, Queens University, Belfast BT9 7AE, UK.
Brandner S; Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, Queen Square, London WC1N 3BG, UK.
Aurrand-Lions M; Aix-Marseille University, Inserm, CNRS, Institut Paoli-Calmettes, CRCM, 13009 Marseille, France.
Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; Neurogenetics Laboratory and Clinical Service, The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK. Electronic address: .
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Corporate Authors :
SYNAPS Study Group; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Źródło :
American journal of human genetics [Am J Hum Genet] 2020 Mar 05; Vol. 106 (3), pp. 412-421.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Age of Onset*
Alleles*
Genes, Recessive*
Brain Diseases/*genetics
Calcinosis/*genetics
Cell Adhesion Molecules/*genetics
Adolescent ; Adult ; Animals ; Brain Diseases/diagnostic imaging ; Calcinosis/diagnostic imaging ; Child ; Female ; Humans ; Male ; Mice ; Middle Aged ; Pedigree
Czasopismo naukowe
Tytuł :
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.
Autorzy :
Wright GEB; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
Collins JA; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
Kay C; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
McDonald C; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
Dolzhenko E; Illumina Inc, San Diego, CA 92121, USA.
Xia Q; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
Bečanović K; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm 171 77, Sweden.
Drögemöller BI; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC V6T 1Z3, Canada.
Semaka A; Department of Psychiatry, University of British Columbia, Vancouver, BC V6T 2A1, Canada.
Nguyen CM; The Hospital For Sick Children, The Centre for Applied Genomics, Genetics and Genome Biology, Toronto, ON M5G 0A4, Canada; University of Toronto, Department of Molecular Genetics, Toronto, ON M5G 0A4, Canada.
Trost B; The Hospital For Sick Children, The Centre for Applied Genomics, Genetics and Genome Biology, Toronto, ON M5G 0A4, Canada.
Richards F; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden 2333, the Netherlands.
Squitieri F; Huntington and Rare Diseases Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo 71013, Italy.
Ross CJD; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC V6T 1Z3, Canada.
Scherer SW; The Hospital For Sick Children, The Centre for Applied Genomics, Genetics and Genome Biology, Toronto, ON M5G 0A4, Canada; University of Toronto, Department of Molecular Genetics, Toronto, ON M5G 0A4, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5G 0A4, Canada.
Eberle MA; Illumina Inc, San Diego, CA 92121, USA.
Yuen RKC; The Hospital For Sick Children, The Centre for Applied Genomics, Genetics and Genome Biology, Toronto, ON M5G 0A4, Canada; University of Toronto, Department of Molecular Genetics, Toronto, ON M5G 0A4, Canada.
Hayden MR; Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2019 Jun 06; Vol. 104 (6), pp. 1116-1126. Date of Electronic Publication: 2019 May 16.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Codon/*genetics
Huntington Disease/*genetics
Huntington Disease/*pathology
Peptides/*genetics
Trinucleotide Repeat Expansion/*genetics
Adolescent ; Adult ; Age of Onset ; Child ; Female ; Humans ; Male ; Middle Aged ; Pedigree
Czasopismo naukowe
Tytuł :
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Autorzy :
Haijes HA; Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands; Department of Biomedical Genetics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands; German Cancer Consortium (DKTK) standort Freiburg and German Cancer Research Center (DKFZ), 79106 Heidelberg, Germany.
Koster MJE; Regenerative Medicine Center and Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 CT Utrecht, the Netherlands; German Cancer Consortium (DKTK) standort Freiburg and German Cancer Research Center (DKFZ), 79106 Heidelberg, Germany.
Rehmann H; Expertise Center for Structural Biology, University Medical Center Utrecht, Utrecht University, 3584 CT Utrecht, the Netherlands; Molecular Cancer Research, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Oncode Institute, 3584 CT Utrecht, the Netherlands.
Li D; Center for Applied Genomics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Hakonarson H; Center for Applied Genomics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Human Genetics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Cappuccio G; Department of Translational Medicine, Federico II University, 80126 Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, 80126 Naples, Italy.
Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.
Lehalle D; Department of Genetics, Centre Hospitalier Universitaire de Dijon, 21000 Dijon, France.
Reardon W; Department of Clinical and Medical Genetics, Our Lady's Hospital for Sick Children, D12 N512 Dublin, Ireland.
Schaefer GB; Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, AR 72223, USA.
Lehman A; Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, BC V6H 3N1 Vancouver, Canada.
van de Laar IMBH; Department of Clinical Genetics, Erasmus Medical University Center Rotterdam, 3000 CA Rotterdam, the Netherlands.
Tesselaar CD; Department of Pediatrics, Amphia Hospital Breda, 4818 CK Breda, the Netherlands.
Turner C; Department of Clinical Genetics and Pediatrics, Walter Reed National Military Medical Center, Bethesda, Maryland, MD 20814, USA.
Goldenberg A; Department of Genetics, Rouen University Hospital, Centre de Référence Anomalies du Développement, Normandy Centre for Genomic and Personalized Medicine, 76000 Rouen, France.
Patrier S; Department of Pathology, Rouen University Hospital, Centre de Référence Anomalies du Développement, 76000 Rouen, France.
Thevenon J; Department of Genetics and Reproduction, Centre Hospitalier Universitaire de Grenoble, 38700 Grenoble, France.
Pinelli M; Department of Translational Medicine, Federico II University, 80126 Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, 80126 Naples, Italy.
Brunetti-Pierri N; Department of Translational Medicine, Federico II University, 80126 Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, 80126 Naples, Italy.
Prchalová D; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.
Havlovicová M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.
Vlckova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.
Sedláček Z; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic.
Lopez E; Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, BC V6H 3N1 Vancouver, Canada.
Ragoussis V; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, OX3 7BN Oxford, UK.
Pagnamenta AT; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, OX3 7BN Oxford, UK.
Kini U; Department of Genomic Medicine, Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, OX3 7LE Oxford, UK.
Vos HR; Molecular Cancer Research, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Oncode Institute, 3584 CT Utrecht, the Netherlands.
van Es RM; Molecular Cancer Research, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Oncode Institute, 3584 CT Utrecht, the Netherlands.
van Schaik RFMA; Molecular Cancer Research, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Oncode Institute, 3584 CT Utrecht, the Netherlands.
van Essen TAJ; Department of Clinical Genetics, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands.
Kibaek M; H.C. Andersen Children Hospital, Odense University Hospital, 5000 Odense, Denmark.
Taylor JC; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, OX3 7BN Oxford, UK.
Sullivan J; Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, NC 27710, USA.
Shashi V; Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, NC 27710, USA.
Petrovski S; Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, NC 27710, USA; AstraZeneca Centre for Genomics Research, Precision Medicine and Genomics, IMED Biotech Unit, AstraZeneca, CB4 0WG Cambridge, United Kingdom; Department of Medicine, the University of Melbourne, VIC 3010 Melbourne, Australia.
Fagerberg C; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.
Martin DM; Departments of Pediatrics and Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, MI 48109, USA.
van Gassen KLI; Department of Biomedical Genetics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands.
Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center Nijmegen, 6525 HR Nijmegen, the Netherlands.
Falk MJ; Division of Human Genetics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Mitochondrial Medicine Frontier Program, Division of Human Genetics, the Children's Hospital of Philadelphia, PA 19104, Philadelphia, USA.
McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, the Children's Hospital of Philadelphia, PA 19104, Philadelphia, USA.
Timmers HTM; Regenerative Medicine Center and Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, 3584 CT Utrecht, the Netherlands; Department of Urology, University Medical Center Freiburg, University of Freiburg, 79110 Freiburg, Germany.
van Hasselt PM; Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2019 Aug 01; Vol. 105 (2), pp. 283-301. Date of Electronic Publication: 2019 Jul 25.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
DNA-Directed RNA Polymerases/*genetics
Muscle Hypotonia/*pathology
Neurodevelopmental Disorders/*pathology
Saccharomyces cerevisiae/*growth & development
Adolescent ; Age of Onset ; Child ; Child, Preschool ; Female ; HeLa Cells ; Heterozygote ; Humans ; Male ; Muscle Hypotonia/enzymology ; Muscle Hypotonia/genetics ; Neurodevelopmental Disorders/enzymology ; Neurodevelopmental Disorders/genetics ; Phenotype ; Saccharomyces cerevisiae/genetics ; Saccharomyces cerevisiae/metabolism
Czasopismo naukowe
Tytuł :
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
Autorzy :
Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
Conboy E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Wang JS; Department of Pediatrics, Jinshan Hospital, Fudan University, 201508 Shanghai, China; Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, 201102 Shanghai, China.
Lenz D; Department of General Pediatrics, Division of Neuropediatrics and Pediatric Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
Schwab TL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA.
Williams M; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA.
Abraham RS; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.
Barnett S; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
El-Youssef M; Department of Pediatric Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN 55905, USA.
Graham RP; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Gutierrez Sanchez LH; Department of Pediatric Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN 55905, USA.
Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Hoffmann GF; Department of General Pediatrics, Division of Neuropediatrics and Pediatric Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
Hull NC; Department of Radiology, Division of Pediatric Radiology, Mayo Clinic, Rochester, MN 55905, USA.
Kopajtich R; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
Kovacs-Nagy R; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
Li JQ; Department of Pediatrics, Jinshan Hospital, Fudan University, 201508 Shanghai, China.
Marx-Berger D; Pediatric Nephrology, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland.
McLin V; Pediatric Gastroenterology Unit, University Hospitals Geneva, Rue Willy-Donzé 6, 1211 Geneva, Switzerland.
McNiven MA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA; Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN 55905, USA.
Mounajjed T; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Prokisch H; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
Rymen D; Department of Metabolic Diseases, University Children's Hospital Zurich, Zurich, Switzerland.
Schulze RJ; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA; Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN 55905, USA.
Staufner C; Department of General Pediatrics, Division of Neuropediatrics and Pediatric Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
Yang Y; Department of Pediatrics, Jinshan Hospital, Fudan University, 201508 Shanghai, China.
Clark KJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA.
Lanpher BC; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA. Electronic address: .
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2019 Jul 03; Vol. 105 (1), pp. 108-121. Date of Electronic Publication: 2019 Jun 13.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Autophagy*
Mutation*
Bone Diseases, Developmental/*etiology
Cell Cycle Proteins/*genetics
Fibroblasts/*pathology
Liver Failure, Acute/*etiology
Age of Onset ; Alleles ; Amino Acid Sequence ; Bone Diseases, Developmental/metabolism ; Bone Diseases, Developmental/pathology ; Cell Cycle Proteins/metabolism ; Child ; Child, Preschool ; Female ; Fibroblasts/metabolism ; Golgi Apparatus/metabolism ; Golgi Apparatus/pathology ; Humans ; Infant ; Liver Failure, Acute/metabolism ; Liver Failure, Acute/pathology ; Male ; Pedigree ; Protein Transport ; Recurrence ; Sequence Homology
Czasopismo naukowe
Tytuł :
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
Autorzy :
Ferreira MAR; Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia. Electronic address: .
Mathur R; Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia.
Vonk JM; Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen 9713, the Netherlands; Groningen Research Institute for Asthma and COPD, University Medical Center Groningen, University of Groningen, Groningen 9713, the Netherlands.
Szwajda A; Department of Medical Epidemiology and Biostatistics and the Swedish Twin Registry, Karolinska Institutet, Stockholm 171 77, Sweden.
Brumpton B; Medical Reserve Corps Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol BS8 1TH, UK; K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Norges Teknisk-Naturvitenskapelige Universitet, Norwegian University of Science and Technology, Trondheim 7491, Norway; Clinic of Thoracic and Occupational Medicine, St. Olav's Hospital, Trondheim University Hospital, Trondheim 7030, Norway.
Granell R; Medical Reserve Corps Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol BS8 1TH, UK.
Brew BK; Department of Medical Epidemiology and Biostatistics and the Swedish Twin Registry, Karolinska Institutet, Stockholm 171 77, Sweden.
Ullemar V; Department of Medical Epidemiology and Biostatistics and the Swedish Twin Registry, Karolinska Institutet, Stockholm 171 77, Sweden.
Lu Y; Department of Medical Epidemiology and Biostatistics and the Swedish Twin Registry, Karolinska Institutet, Stockholm 171 77, Sweden.
Jiang Y; 23andMe, Mountain View, California 94041, USA.
Magnusson PKE; Department of Medical Epidemiology and Biostatistics and the Swedish Twin Registry, Karolinska Institutet, Stockholm 171 77, Sweden.
Karlsson R; Department of Medical Epidemiology and Biostatistics and the Swedish Twin Registry, Karolinska Institutet, Stockholm 171 77, Sweden.
Hinds DA; 23andMe, Mountain View, California 94041, USA.
Paternoster L; Medical Reserve Corps Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol BS8 1TH, UK.
Koppelman GH; Department of Pediatric Pulmonology and Pediatric Allergology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen 9713, the Netherlands; Groningen Research Institute for Asthma and COPD, University Medical Center Groningen, University of Groningen, Groningen 9713, the Netherlands.
Almqvist C; Department of Medical Epidemiology and Biostatistics and the Swedish Twin Registry, Karolinska Institutet, Stockholm 171 77, Sweden; Pediatric Allergy and Pulmonology Unit at Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm 171 76, Sweden.
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Corporate Authors :
23andMe Research Team; 23andMe, Mountain View, California 94041, USA.
eQTLGen Consortium; Collaborators of the eQTLGen Consortium are listed at the end of the manuscript.
BIOS Consortium; A full list of members appears at the end of the paper.
Źródło :
American journal of human genetics [Am J Hum Genet] 2019 Apr 04; Vol. 104 (4), pp. 665-684. Date of Electronic Publication: 2019 Mar 28.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Asthma/*genetics
Adolescent ; Adult ; Age of Onset ; Alleles ; Child ; Child, Preschool ; Female ; Genome-Wide Association Study ; Humans ; Hypersensitivity ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Quantitative Trait Loci ; Risk Factors ; United Kingdom ; Young Adult
Czasopismo naukowe
Tytuł :
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Autorzy :
Ceyhan-Birsoy O; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 02139, USA.
Murry JB; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 02139, USA; Harvard Medical School, Boston, MA 02115, USA.
Machini K; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 02139, USA; Harvard Medical School, Boston, MA 02115, USA.
Lebo MS; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 02139, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Yu TW; Harvard Medical School, Boston, MA 02115, USA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Fayer S; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Genetti CA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
Schwartz TS; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
Agrawal PB; Harvard Medical School, Boston, MA 02115, USA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA 02115, USA.
Parad RB; Harvard Medical School, Boston, MA 02115, USA; Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Holm IA; Harvard Medical School, Boston, MA 02115, USA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
McGuire AL; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX 77030, USA.
Green RC; Harvard Medical School, Boston, MA 02115, USA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Rehm HL; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 02139, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Beggs AH; Harvard Medical School, Boston, MA 02115, USA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: .
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Corporate Authors :
BabySeq Project Team
Źródło :
American journal of human genetics [Am J Hum Genet] 2019 Jan 03; Vol. 104 (1), pp. 76-93.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Genetic Testing*
Genomics*
Health*
Sequence Analysis, DNA*
Disease/*genetics
Genome, Human/*genetics
Age of Onset ; Continental Population Groups/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Genetic Variation/genetics ; Heterozygote ; Humans ; Infant, Newborn ; Male ; Pharmacogenetics ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.
Autorzy :
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Tsukaguchi H; Second Department of Internal Medicine, Kansai Medical University, Osaka 570-8507, Japan. Electronic address: .
Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Shono A; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
Matsunaga S; Department of Microbiology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Mimura Y; Cellular Dynamics Laboratory, RIKEN, Wako 351-0198, Japan.
Imamura S; National Research Institute of Fisheries Science, Yokohama 236-8648, Japan.
Hirose T; Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Okudela K; Department of Pathology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
Akioka Y; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo 162-8666, Japan.
Hattori M; Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo 162-8666, Japan.
Yoshikawa N; Center for Clinical Research and Development, National Center for Child Health and Development, Tokyo 157-8535, Japan.
Kitamura A; Department of Immunology & Parasitology, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima 770-8503, Japan.
Cheong HI; Department of Pediatrics, Seoul National University Children's Hospital, Seoul 03080, Korea; Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul 03080, Korea; Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul 03080, Korea.
Kagami S; Department of Pediatrics, University of Tokushima Graduate School, Tokushima 770-8503, Japan.
Yamashita M; National Research Institute of Fisheries Science, Yokohama 236-8648, Japan.
Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Tsurusaki Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Ohashi K; Department of Pathology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Imamoto N; Cellular Dynamics Laboratory, RIKEN, Wako 351-0198, Japan.
Ryo A; Department of Microbiology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Iijima K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2015 Oct 01; Vol. 97 (4), pp. 555-66. Date of Electronic Publication: 2015 Sep 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Age of Onset*
Mutation/*genetics
Nephrotic Syndrome/*congenital
Nuclear Pore Complex Proteins/*genetics
Zebrafish/*genetics
Zebrafish Proteins/*genetics
Alleles ; Animals ; Cells, Cultured ; Child ; Child, Preschool ; Cytoplasm/metabolism ; Female ; Haplotypes ; Humans ; Immunoblotting ; Immunoprecipitation ; Infant ; Kidney/metabolism ; Kidney/pathology ; Male ; Microscopy, Fluorescence ; Nephrotic Syndrome/etiology ; Nephrotic Syndrome/pathology ; Nuclear Pore ; Nuclear Pore Complex Proteins/antagonists & inhibitors ; Oligoribonucleotides, Antisense/pharmacology ; Pedigree ; Podocytes/metabolism ; Podocytes/pathology ; RNA, Messenger/genetics ; Real-Time Polymerase Chain Reaction ; Reverse Transcriptase Polymerase Chain Reaction ; Zebrafish/growth & development ; Zebrafish Proteins/antagonists & inhibitors
SCR Disease Name :
Nephrotic syndrome, idiopathic, steroid-resistant
Czasopismo naukowe
Tytuł :
Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.
Autorzy :
Brand H; Psychiatric and Neurodevelopmental Genetics Unit, Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Pillalamarri V; Psychiatric and Neurodevelopmental Genetics Unit, Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
Collins RL; Psychiatric and Neurodevelopmental Genetics Unit, Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
Eggert S; Psychiatric and Neurodevelopmental Genetics Unit, Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
O'Dushlaine C; Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02141, USA.
Braaten EB; Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Stone MR; Psychiatric and Neurodevelopmental Genetics Unit, Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
Chambert K; Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02141, USA.
Doty ND; Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Hanscom C; Psychiatric and Neurodevelopmental Genetics Unit, Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
Rosenfeld JA; Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA 99207, USA.
Ditmars H; Psychiatric and Neurodevelopmental Genetics Unit, Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
Blais J; Psychiatric and Neurodevelopmental Genetics Unit, Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
Mills R; Departments of Computational Medicine & Bioinformatics and Human Genetics, University of Michigan Medical Center, Ann Arbor, MI 48109, USA.
Lee C; The Jackson Laboratory for Genomic Medicine, Farmington, CT 06030, USA.
Gusella JF; Psychiatric and Neurodevelopmental Genetics Unit, Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02141, USA.
McCarroll S; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02141, USA.
Smoller JW; Psychiatric and Neurodevelopmental Genetics Unit, Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02141, USA; Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Talkowski ME; Psychiatric and Neurodevelopmental Genetics Unit, Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA; Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02141, USA; Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA. Electronic address: .
Doyle AE; Psychiatric and Neurodevelopmental Genetics Unit, Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02141, USA; Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2014 Oct 02; Vol. 95 (4), pp. 454-61.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Age of Onset*
Chromosome Aberrations*
Chromosomes, Human/*genetics
DNA Copy Number Variations/*genetics
Mental Disorders/*genetics
Neurodegenerative Diseases/*genetics
Comparative Genomic Hybridization ; Genome, Human ; Humans ; Mental Disorders/epidemiology ; Microarray Analysis ; Neurodegenerative Diseases/epidemiology ; Phenotype ; United States/epidemiology
Czasopismo naukowe
Tytuł :
Ascertainment bias causes false signal of anticipation in genetic prion disease.
Autorzy :
Minikel EV; Prion Alliance, Cambridge, MA 02139, USA; Broad Institute, Cambridge, MA 02142, USA; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address: .
Zerr I; National Reference Center for TSE, Georg-August University, 37073 Goettingen, Germany; German Center for Neurodegenerative Disease (DZNE), 37073 Goettingen, Germany.
Collins SJ; Australian National Creutzfeldt-Jakob Disease Registry, The University of Melbourne, Parkville, Australia 3010.
Ponto C; National Reference Center for TSE, Georg-August University, 37073 Goettingen, Germany.
Boyd A; Australian National Creutzfeldt-Jakob Disease Registry, The University of Melbourne, Parkville, Australia 3010.
Klug G; Australian National Creutzfeldt-Jakob Disease Registry, The University of Melbourne, Parkville, Australia 3010.
Karch A; National Reference Center for TSE, Georg-August University, 37073 Goettingen, Germany.
Kenny J; MRC Prion Unit, Department of Neurodegenerative Disease, University College London (UCL) Institute of Neurology, and NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCL Hospitals NHS Trust, Queen Square, WC1N 3BG London, UK.
Collinge J; MRC Prion Unit, Department of Neurodegenerative Disease, University College London (UCL) Institute of Neurology, and NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCL Hospitals NHS Trust, Queen Square, WC1N 3BG London, UK.
Takada LT; Department of Neurology, Memory and Aging Center, University of California, San Francisco, San Francisco, CA 94158, USA.
Forner S; Department of Neurology, Memory and Aging Center, University of California, San Francisco, San Francisco, CA 94158, USA.
Fong JC; Department of Neurology, Memory and Aging Center, University of California, San Francisco, San Francisco, CA 94158, USA.
Mead S; MRC Prion Unit, Department of Neurodegenerative Disease, University College London (UCL) Institute of Neurology, and NHS National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCL Hospitals NHS Trust, Queen Square, WC1N 3BG London, UK.
Geschwind MD; Department of Neurology, Memory and Aging Center, University of California, San Francisco, San Francisco, CA 94158, USA.
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Źródło :
American journal of human genetics [Am J Hum Genet] 2014 Oct 02; Vol. 95 (4), pp. 371-82.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Age of Onset*
Bias*
Anticipation, Genetic/*genetics
Creutzfeldt-Jakob Syndrome/*genetics
Genetic Diseases, Inborn/*genetics
Mutation/*genetics
Prions/*genetics
Adolescent ; Adult ; Aged ; Child ; Computer Simulation ; Female ; Humans ; Male ; Middle Aged ; Models, Statistical ; Pedigree ; Prion Proteins ; Retrospective Studies ; Young Adult
Czasopismo naukowe
Tytuł :
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Autorzy :
Olson HE; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA 02115, USA.
Jean-Marçais N; Centre de Génétique Médicale, Centre de Référence 'Déficiences Intellectuelles de causes rares,' CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France.
Yang E; Department of Radiology, Boston Children's Hospital, Boston, MA 02115, USA.
Heron D; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, 75013, Paris, France; Centre de Référence 'déficiences intellectuelles de causes rares,' 75013 Paris, France; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, 75013 Paris, France.
Tatton-Brown K; St George's University of London, London, UK and South West Thames Regional Genetics Service, St George's Universities NHS Foundation Trust, London SW17 0RE, UK.
van der Zwaag PA; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 RB Groningen, the Netherlands.
Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
Krock BL; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Backer E; Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, NHS Foundation Trust, Saint Mary's Hospital, Manchester M13 9WL, UK.
Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Sinnema M; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, Maastricht 6229 ER, the Netherlands.
Reijnders MRF; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Bearden D; Department of Neurology, Division of Child Neurology, University of Rochester School of Medicine, Rochester, NY 14642, USA.
Begtrup A; GeneDx program, Gaithersburg, MD 20877, USA.
Telegrafi A; GeneDx program, Gaithersburg, MD 20877, USA.
Lunsing RJ; University of Groningen, University Medical Center Groningen, Department of Child Neurology, 9713 GZ Groningen, the Netherlands.
Burglen L; Centre de Référence Maladies Rares 'Malformations et maladies congénitales du cervelet,' Département de Génétique Médicale, APHP, GHUEP, Hôpital Trousseau, 75012 Paris, France; GRC ConCer-LD, Sorbonne Universités, UPMC Univ 06, 75019 Paris, France; INSERM U1141, Université Paris Diderot, 75019 Paris, France.
Lesca G; Department of Medical Genetics, Lyon University Hospital, 69677 Lyon, France; CNRS UMR 5292, INSERM U1028, CNRL, 69500 Lyon, France; Université Claude Bernard Lyon 1, GHE, 69100 Lyon, France.
Cho MT; GeneDx program, Gaithersburg, MD 20877, USA.
Smith LA; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA 02115, USA.
Sheidley BR; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA 02115, USA.
Moufawad El Achkar C; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA 02115, USA.
Pearl PL; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA 02115, USA.
Poduri A; Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA 02115, USA.
Skraban CM; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Tarpinian J; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Nesbitt AI; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Fransen van de Putte DE; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
Rump P; University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 RB Groningen, the Netherlands.
Chatron N; Department of Medical Genetics, Lyon University Hospital, 69677 Lyon, France; CNRS UMR 5292, INSERM U1028, CNRL, 69500 Lyon, France; Université Claude Bernard Lyon 1, GHE, 69100 Lyon, France.
Sabatier I; Department of Pediatric Neurology, Lyon University Hospital, 69677 Lyon, France.
De Bellescize J; Department of clinical epileptology, sleep and functional neurology in children, Lyon University Hospital, 69677 Lyon, France.
Guibaud L; Université Claude Bernard Lyon I, CHU de Lyon, 69677 Lyon, France; Service de radiologie, Hôpital-Femme-Mère-Enfant, Hospices Civils de Lyon, 69677 Lyon, France.
Sweetser DA; Division of Medical Genetics, Department of Pediatrics and Metabolism, MassGeneral Hospital for Children, Boston, MA 02114, USA.
Waxler JL; Division of Medical Genetics, Department of Pediatrics and Metabolism, MassGeneral Hospital for Children, Boston, MA 02114, USA.
Wierenga KJ; Department of Pediatrics, Oklahoma University Health Sciences Center (OUHSC), Oklahoma City, OK 73104, USA.
Donadieu J; Service d'hémato-oncologie pédiatrique, Hôpital Trousseau, APHP, 75012 Paris, France.
Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Ramsey KM; Center for Rare Childhood Disorders, Translational Genomics Research Institute (TGen), Phoenix, AZ 85004, USA.
Nava C; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, 75013 Paris, France; UPMC, Inserm, CNRS, UM 75, U 1127, UMR 7225, ICM, Paris 75013, France.
Rivière JB; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
Vitobello A; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
Tran Mau-Them F; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
Philippe C; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
Bruel AL; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
Duffourd Y; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
Thomas L; Department of Microbiology and Molecular Genetics and University of Pittsburgh Cancer Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA 15219, USA.
Lelieveld SH; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Schuurs-Hoeijmakers J; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands.
Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, Maastricht 6229 ER, the Netherlands.
Keren B; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, 75013 Paris, France; UPMC, Inserm, CNRS, UM 75, U 1127, UMR 7225, ICM, Paris 75013, France.
Thevenon J; Centre de Génétique Médicale, Centre de Référence 'Déficiences Intellectuelles de causes rares,' CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
Faivre L; Centre de Génétique Médicale, Centre de Référence 'Déficiences Intellectuelles de causes rares,' CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
Thomas G; Department of Microbiology and Molecular Genetics and University of Pittsburgh Cancer Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA 15219, USA.
Thauvin-Robinet C; Centre de Génétique Médicale, Centre de Référence 'Déficiences Intellectuelles de causes rares,' CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address: .
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Corporate Authors :
DDD Study
C4RCD Research Group
Źródło :
American journal of human genetics [Am J Hum Genet] 2018 May 03; Vol. 102 (5), pp. 995-1007. Date of Electronic Publication: 2018 Apr 12.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Facies*
Cerebellar Diseases/*genetics
Epilepsy, Generalized/*genetics
Mutation, Missense/*genetics
Vesicular Transport Proteins/*genetics
Age of Onset ; Child, Preschool ; Female ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Phenotype
Czasopismo naukowe
Tytuł :
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
Autorzy :
Feichtinger RG; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.
Oláhová M; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience and Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Kishita Y; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-1241, Japan; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo 113-8421, Japan.
Garone C; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust, MRC Building, Cambridge CB2 0XY, UK; Department of Neurology, Columbia University Medical Center, New York, NY 10032-3784, USA.
Kremer LS; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Yagi M; Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.
Uchiumi T; Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.
Jourdain AA; Howard Hughes Medical Institute, Department of Molecular Biology, Center for Genome Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Thompson K; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience and Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
D'Souza AR; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust, MRC Building, Cambridge CB2 0XY, UK.
Kopajtich R; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
Alston CL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience and Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Koch J; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.
Sperl W; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.
Mastantuono E; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Strom TM; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Wortmann SB; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Meitinger T; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, 80802 Munich, Germany.
Pierre G; South West Regional Metabolic Department, Bristol Royal Hospital for Children, Bristol BS1 3NU, UK.
Chinnery PF; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust, MRC Building, Cambridge CB2 0XY, UK.
Chrzanowska-Lightowlers ZM; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience and Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Lightowlers RN; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience and Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
DiMauro S; Department of Neurology, Columbia University Medical Center, New York, NY 10032-3784, USA.
Calvo SE; Howard Hughes Medical Institute, Department of Molecular Biology, Center for Genome Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Mootha VK; Howard Hughes Medical Institute, Department of Molecular Biology, Center for Genome Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Moggio M; Neuromuscular Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Sciacco M; Neuromuscular Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Comi GP; Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Ronchi D; Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba 266-0007, Japan.
Ohtake A; Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama 350-0495, Japan.
Rebelo-Guiomar P; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust, MRC Building, Cambridge CB2 0XY, UK; Graduate Program in Areas of Basic and Applied Biology, University of Porto, 4099-002 Porto, Portugal.
Kohda M; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-1241, Japan; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo 113-8421, Japan.
Kang D; Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.
Mayr JA; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.
Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience and Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Okazaki Y; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-1241, Japan; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo 113-8421, Japan.
Minczuk M; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust, MRC Building, Cambridge CB2 0XY, UK.
Prokisch H; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2017 Oct 05; Vol. 101 (4), pp. 525-538. Date of Electronic Publication: 2017 Sep 21.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
Cardiomyopathies/*genetics
Carrier Proteins/*genetics
Electron Transport/*physiology
Mitochondrial Diseases/*genetics
Mitochondrial Proteins/*genetics
Adult ; Age of Onset ; Aged ; Alleles ; Amino Acid Sequence ; Animals ; Cardiomyopathies/complications ; Cardiomyopathies/pathology ; Carrier Proteins/chemistry ; Carrier Proteins/metabolism ; Cells, Cultured ; Child, Preschool ; Cohort Studies ; DNA, Mitochondrial ; Embryo, Mammalian/metabolism ; Embryo, Mammalian/pathology ; Female ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Humans ; Infant, Newborn ; Male ; Mice ; Middle Aged ; Mitochondrial Diseases/complications ; Mitochondrial Diseases/pathology ; Mitochondrial Proteins/chemistry ; Mitochondrial Proteins/metabolism ; Oxidative Phosphorylation ; Pedigree ; Protein Conformation ; Sequence Homology ; Severity of Illness Index ; Young Adult
Czasopismo naukowe
Tytuł :
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
Autorzy :
Seixas AI; UnIGENe, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal.
Loureiro JR; Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Genetics of Cognitive Dysfunction Laboratory, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, 4050-313 Porto, Portugal.
Costa C; Department of Neurology, Hospital Prof. Doutor Fernando Fonseca EPE, 2720-276 Amadora, Portugal.
Ordóñez-Ugalde A; Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Genetics of Cognitive Dysfunction Laboratory, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; Instituto de Investigación Sanitaria and Fundación Pública Galega de Medicina Xenómica, Centro para Investigación Biomédica en Red de Enfermedades Raras, 15706 Santiago de Compostela, Spain.
Marcelino H; Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Vertebrate Development and Regeneration Laboratory, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.
Oliveira CL; Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Genetics of Cognitive Dysfunction Laboratory, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.
Loureiro JL; UnIGENe, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Department of Neurology, Hospital São Sebastião, 4520-211 Feira, Portugal.
Dhingra A; German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany.
Brandão E; Department of Neurology, Hospital São Sebastião, 4520-211 Feira, Portugal.
Cruz VT; Department of Neurology, Hospital São Sebastião, 4520-211 Feira, Portugal.
Timóteo A; Department of Neurology, Hospital Prof. Doutor Fernando Fonseca EPE, 2720-276 Amadora, Portugal.
Quintáns B; Instituto de Investigación Sanitaria and Fundación Pública Galega de Medicina Xenómica, Centro para Investigación Biomédica en Red de Enfermedades Raras, 15706 Santiago de Compostela, Spain.
Rouleau GA; Montreal Neurological Institute and Department of Neurology and Neurosurgery, McGill University, Montréal, QC H3A 2B4, Canada.
Rizzu P; German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany.
Carracedo Á; Instituto de Investigación Sanitaria and Fundación Pública Galega de Medicina Xenómica, Centro para Investigación Biomédica en Red de Enfermedades Raras, 15706 Santiago de Compostela, Spain.
Bessa J; Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Vertebrate Development and Regeneration Laboratory, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.
Heutink P; German Center for Neurodegenerative Diseases, 72076 Tübingen, Germany.
Sequeiros J; UnIGENe, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, 4050-313 Porto, Portugal.
Sobrido MJ; Instituto de Investigación Sanitaria and Fundación Pública Galega de Medicina Xenómica, Centro para Investigación Biomédica en Red de Enfermedades Raras, 15706 Santiago de Compostela, Spain.
Coutinho P; UnIGENe, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal; Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal.
Silveira I; Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Genetics of Cognitive Dysfunction Laboratory, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2017 Jul 06; Vol. 101 (1), pp. 87-103.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Predisposition to Disease*
Physical Chromosome Mapping*
Adaptor Proteins, Signal Transducing/*genetics
DNA, Intergenic/*genetics
Microsatellite Repeats/*genetics
Nerve Tissue Proteins/*genetics
Spinocerebellar Ataxias/*genetics
Adaptor Proteins, Signal Transducing/metabolism ; Adolescent ; Adult ; Age of Onset ; Alleles ; Base Sequence ; Cerebellum/metabolism ; Chromosome Segregation/genetics ; Chromosomes, Human, Pair 1/genetics ; DNA Mutational Analysis ; Embryonic Development/genetics ; Female ; HEK293 Cells ; Haplotypes/genetics ; Humans ; Introns/genetics ; Male ; Middle Aged ; Mutagenesis, Insertional/genetics ; Nerve Tissue Proteins/metabolism ; Pedigree ; RNA/genetics ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Young Adult
Czasopismo naukowe
Tytuł :
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
Autorzy :
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa 236-0004, Japan.
Mitsuhashi S; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan; Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan; Biomedical Informatics Laboratory, Department of Molecular Life Science, Tokai University School of Medicine, Isehara, Kanagawa 259-1193, Japan.
Hayashi YK; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan; Department of Pathophysiology, Tokyo Medical University, Shinjuku-ku, Tokyo 160-8402, Japan.
Purevjav E; Department of Pediatrics, The Heart Institute, University of Tennessee Health Science Center, Memphis, TN 38103, USA.
Nishikawa A; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan; Department of Education, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Chuo-shi, Yamanashi 409-3898, Japan.
Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Suzuki M; Department of Neurology, National Hospital Organization Higashisaitama Hospital, Hasuda, Saitama 349-0196, Japan.
Yatabe K; Department of Neurology, National Hospital Organization Higashisaitama Hospital, Hasuda, Saitama 349-0196, Japan.
Tanaka Y; Department of Neurology, National Hospital Organization Higashisaitama Hospital, Hasuda, Saitama 349-0196, Japan.
Ogata K; Department of Neurology, National Hospital Organization Higashisaitama Hospital, Hasuda, Saitama 349-0196, Japan.
Kuru S; Department of Neurology, National Hospital Organization Suzuka National Hospital, Suzuka, Mie 513-8501, Japan.
Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Tsurusaki Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka 431-3192, Japan.
Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Kawai M; Department of Neurology, National Hospital Organization Higashisaitama Hospital, Hasuda, Saitama 349-0196, Japan.
Towbin J; Department of Pediatrics, The Heart Institute, University of Tennessee Health Science Center, Memphis, TN 38103, USA.
Nonaka I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan.
Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2017 Jan 05; Vol. 100 (1), pp. 169-178. Date of Electronic Publication: 2016 Dec 22.
Typ publikacji :
Journal Article
MeSH Terms :
Alleles*
Disease Progression*
Mutation*
Muscle Proteins/*genetics
Myopathies, Nemaline/*genetics
Adult ; Age of Onset ; Animals ; Child ; Child, Preschool ; Female ; Gene Knock-In Techniques ; Humans ; Male ; Mice ; Middle Aged ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Muscle, Skeletal/ultrastructure ; Myopathies, Nemaline/pathology ; Pedigree
Czasopismo naukowe
Tytuł :
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Autorzy :
Ait-El-Mkadem S; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, 06202 Nice, France; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France.
Dayem-Quere M; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, 06202 Nice, France; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France.
Gusic M; Institute of Human Genetics, Technical University of Munich, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Chaussenot A; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, 06202 Nice, France; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France.
Bannwarth S; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, 06202 Nice, France; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France.
François B; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France.
Genin EC; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France.
Fragaki K; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, 06202 Nice, France; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France.
Volker-Touw CLM; Department of Genetics, University Medical Center Utrecht, 3584 Utrecht, the Netherlands.
Vasnier C; Institute for Integrative Biology of the Cell (I2BC), Commissariat à l'Énergie Atomique et aux Énergies Alternatives, CNRS, Université Paris-Sud, Université Paris-Saclay, 91198 Gif-sur-Yvette Cedex, France.
Serre V; CNRS UMR 7592, Jacques Monod Institute, Paris Diderot University, 75205 Paris, France.
van Gassen KLI; Department of Genetics, University Medical Center Utrecht, 3584 Utrecht, the Netherlands.
Lespinasse F; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France.
Richter S; Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany.
Eisenhofer G; Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany.
Rouzier C; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, 06202 Nice, France; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France.
Mochel F; INSERM U1127, CNRS UMR 7225, Sorbonne Universités, l'Université Pierre et Marie Curie (Paris 06) UMR S1127, Institut du Cerveau et de la Moelle Épinière Department of Genetics, Pitié-Salpêtrière University Hospital, 75013 Paris, France.
De Saint-Martin A; Service de Neurologie Pédiatrique, Centre de Référence pour les Épilepsies Rares, Centre Hospitalier Universitaire de Strasbourg, 67098 Strasbourg, France.
Abi Warde MT; Service de Neurologie Pédiatrique, Centre de Référence pour les Épilepsies Rares, Centre Hospitalier Universitaire de Strasbourg, 67098 Strasbourg, France.
de Sain-van der Velde MGM; Laboratory of Metabolic Diseases, University Medical Center Utrecht, 3584 Utrecht, the Netherlands.
Jans JJM; Laboratory of Metabolic Diseases, University Medical Center Utrecht, 3584 Utrecht, the Netherlands.
Amiel J; Department of Genetics, Hôpital Necker-Enfants Malades, 75015 Paris, France.
Avsec Z; Department of Informatics, Technical University of Munich, 85748 Garching, Germany.
Mertes C; Department of Informatics, Technical University of Munich, 85748 Garching, Germany.
Haack TB; Institute of Human Genetics, Technical University of Munich, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Strom T; Institute of Human Genetics, Technical University of Munich, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Meitinger T; Institute of Human Genetics, Technical University of Munich, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Taylor RW; Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, NE2 4HH Newcastle upon Tyne, UK.
Gagneur J; Department of Informatics, Technical University of Munich, 85748 Garching, Germany.
van Hasselt PM; Department of Metabolic Diseases, University Medical Center Utrecht, 3584 Utrecht, the Netherlands.
Rötig A; INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France.
Delahodde A; Institute for Integrative Biology of the Cell (I2BC), Commissariat à l'Énergie Atomique et aux Énergies Alternatives, CNRS, Université Paris-Sud, Université Paris-Saclay, 91198 Gif-sur-Yvette Cedex, France.
Prokisch H; Institute of Human Genetics, Technical University of Munich, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Fuchs SA; Laboratory of Metabolic Diseases, University Medical Center Utrecht, 3584 Utrecht, the Netherlands.
Paquis-Flucklinger V; Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, 06202 Nice, France; Nice Sophia-Antipolis University, CNRS UMR 7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, 06107 Nice, France. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2017 Jan 05; Vol. 100 (1), pp. 151-159. Date of Electronic Publication: 2016 Dec 15.
Typ publikacji :
Journal Article
MeSH Terms :
Citric Acid Cycle*/genetics
Mutation*
Brain Diseases/*genetics
Malate Dehydrogenase/*genetics
Age of Onset ; Alleles ; Amino Acid Sequence ; Child ; Child, Preschool ; Fibroblasts/enzymology ; Fibroblasts/metabolism ; Fumarates/metabolism ; Genetic Complementation Test ; Humans ; Infant ; Infant, Newborn ; Malate Dehydrogenase/chemistry ; Malate Dehydrogenase/metabolism ; Malates/metabolism ; Male ; Metabolomics ; Models, Molecular
Czasopismo naukowe
Tytuł :
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
Autorzy :
Sleven H; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.
Welsh SJ; Program in Molecular Biology, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.
Yu J; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.
Churchill MEA; Program in Molecular Biology, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Pharmacology, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA.
Wright CF; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
Henderson A; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.
Horvath R; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
Rankin J; Peninsula Clinical Genetics Service, Exeter EX1 2ED, UK.
Vogt J; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Birmingham B15 2TG, UK.
Magee A; Department of Genetic Medicine, Belfast City Hospital, Belfast BT9 7AB, UK.
McConnell V; Department of Genetic Medicine, Belfast City Hospital, Belfast BT9 7AB, UK.
Green A; Department of Clinical Genetics, Our Lady's Hospital, Crumlin, Dublin D12 N512, Ireland; Health Science Centre, School of Medicine & Medical Science, University College Dublin, Belfield, Dublin 4, Ireland.
King MD; Department of Paediatric Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin 4, Ireland.
Cox H; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Birmingham B15 2TG, UK.
Armstrong L; Department of Medical Genetics, Children's & Women's Health Centre of British Columbia, 4500 Oak Street, Vancouver, BC V6H 3N1, Canada.
Lehman A; Department of Medical Genetics, Children's & Women's Health Centre of British Columbia, 4500 Oak Street, Vancouver, BC V6H 3N1, Canada.
Nelson TN; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada; Department of Pathology and Laboratory Medicine, BC Children's and BC Women's Hospitals, Vancouver, BC V6H 3N1, Canada.
Williams J; Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LJ, UK.
Clouston P; Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LJ, UK.
Hagman J; Program in Molecular Biology, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Biomedical Research, National Jewish Health, Denver, CO 80206, USA. Electronic address: .
Németh AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Windmill Road, Headington, Oxford OX3 7HE, UK. Electronic address: .
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Corporate Authors :
Deciphering Developmental Disorders study; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
CAUSES study; Department of Medical Genetics, Children's & Women's Health Centre of British Columbia, 4500 Oak Street, Vancouver, BC V6H 3N1, Canada.
Źródło :
American journal of human genetics [Am J Hum Genet] 2017 Jan 05; Vol. 100 (1), pp. 138-150. Date of Electronic Publication: 2016 Dec 23.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
Neurodevelopmental Disorders/*genetics
Transcription Factors/*genetics
Adolescent ; Age of Onset ; Ataxia/genetics ; Canada ; Child ; DNA/metabolism ; Developmental Disabilities/genetics ; Face/abnormalities ; Female ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability/genetics ; Male ; Mutation, Missense/genetics ; Strabismus/genetics ; Syndrome ; Transcription Factors/metabolism ; United Kingdom
Czasopismo naukowe
Tytuł :
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Autorzy :
Assoum M; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
Philippe C; Laboratoire de Génétique Médicale, INSERM U954 (Nutrition-Genetics-Environmental Risk Exposure), Centre Hospitalier Universaire Hôpitaux de Brabois, 54511 Vandoeuvre les Nancy, France.
Isidor B; Service de Génétique Médicale, Centre Hospitalier Universaire de Nantes, 44093 Nantes, France; INSERM UMR_S957, 44093 Nantes, France.
Perrin L; Département de Génétique, Centre Hospitalier Universaire Paris - Hôpital Robert Debré, Assistance Publique - Hôpitaux de Paris, 75019 Paris, France.
Makrythanasis P; Department of Genetic Medicine and Development, University of Geneva, Rue Michel-Servet 1, 1211 Geneva 4, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1211 Geneva 4, Switzerland.
Sondheimer N; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada.
Paris C; Centre Hospitalier Régional Universitaire, Hôpital Jean Minjoz, 25030 Besançon, France.
Douglas J; Boston Children's Hospital, Feingold Center, Boston, MA 02115, USA.
Lesca G; Department of Medical Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, 69677 Bron, France; Université de Lyon, 69100 Villeurbanne, France; Centre Nationnal de la Recherche Scientifique UMR 5292, INSERM U1028, Centre de Recherche en Neurosciences de Lyon, bâtiment l'Institut Multidisciplinaire de Biochimie des Lipides, 69621 Villeurbanne, France.
Antonarakis S; Department of Genetic Medicine and Development, University of Geneva, Rue Michel-Servet 1, 1211 Geneva 4, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1211 Geneva 4, Switzerland; Institute of Genetics and Genomics of Geneva, University of Geneva, 1211 Geneva 4, Switzerland.
Hamamy H; Department of Genetic Medicine and Development, University of Geneva, Rue Michel-Servet 1, 1211 Geneva 4, Switzerland.
Jouan T; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France.
Duffourd Y; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France.
Auvin S; INSERM 1141, Service de Neurologie Pédiatrique, Hôpital Robert Debré, 75019 Paris, France.
Saunier A; Laboratoire de Génétique Médicale, INSERM U954 (Nutrition-Genetics-Environmental Risk Exposure), Centre Hospitalier Universaire Hôpitaux de Brabois, 54511 Vandoeuvre les Nancy, France.
Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Nowak C; Boston Children's Hospital, Feingold Center, Boston, MA 02115, USA.
Chatron N; Department of Medical Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, 69677 Bron, France; Université de Lyon, 69100 Villeurbanne, France; Centre Nationnal de la Recherche Scientifique UMR 5292, INSERM U1028, Centre de Recherche en Neurosciences de Lyon, bâtiment l'Institut Multidisciplinaire de Biochimie des Lipides, 69621 Villeurbanne, France.
Ville D; Department of Pediatric Neurology, Groupement Hospitalier Est, Hospices Civils de Lyon, 69677 Bron, France.
Mireskandari K; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada.
Milani P; Service de Physiologie Clinique et Explorations Fonctionnelles, Hôpital Lariboisière, Assistance Publique - Hôpitaux de Paris, 75475 Paris, France.
Jonveaux P; Laboratoire de Génétique Médicale, INSERM U954 (Nutrition-Genetics-Environmental Risk Exposure), Centre Hospitalier Universaire Hôpitaux de Brabois, 54511 Vandoeuvre les Nancy, France.
Lemeur G; Service d'Ophtalmologie, Centre Hospitalo-Universitaire de Nantes, 44093 Nantes, France.
Milh M; Service de Neurologie Pédiatrique, Hôpital de la Timone, Assistance Publique des Hôpitaux de Marseille, 13005 Marseille, France; INSERM UMR_S910, Aix-Marseille Université, 13005 Marseille, France.
Amamoto M; Pediatrics Emergency Center, Kitakyushu Municipal Yahata Hospitals, Kitakyushu 803-8501, Japan.
Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8555, Japan.
Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.
Masri A; Department of Paediatrics, Faculty of Medicine, Jordan University, Amman 11942, Jordan.
Thauvin-Robinet C; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; INSERM 1141, Service de Neurologie Pédiatrique, Hôpital Robert Debré, 75019 Paris, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France.
Rivière JB; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; INSERM 1141, Service de Neurologie Pédiatrique, Hôpital Robert Debré, 75019 Paris, France.
Faivre L; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; INSERM 1141, Service de Neurologie Pédiatrique, Hôpital Robert Debré, 75019 Paris, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France.
Thevenon J; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; INSERM 1141, Service de Neurologie Pédiatrique, Hôpital Robert Debré, 75019 Paris, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2016 Dec 01; Vol. 99 (6), pp. 1368-1376. Date of Electronic Publication: 2016 Nov 23.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
Adaptor Protein Complex 3/*genetics
Adaptor Protein Complex beta Subunits/*genetics
Epilepsy/*complications
Epilepsy/*genetics
Genes, Recessive/*genetics
Optic Atrophy/*complications
Optic Atrophy/*genetics
Age of Onset ; Child ; Child, Preschool ; Developmental Disabilities/genetics ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Microcephaly/genetics ; Pedigree ; Syndrome
Czasopismo naukowe
Tytuł :
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
Autorzy :
Zech M; Institut für Neurogenomik, Helmholtz Zentrum München, 85764 Munich, Germany; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany.
Boesch S; Department of Neurology, Medical University Innsbruck, 6020 Innsbruck, Austria.
Maier EM; Dr. von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, 80337 Munich, Germany.
Borggraefe I; Dr. von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, 80337 Munich, Germany.
Vill K; Dr. von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, 80337 Munich, Germany.
Laccone F; Institute of Medical Genetics, Medical School of Vienna, 1090 Vienna, Austria.
Pilshofer V; Krankenhaus der Barmherzigen Schwestern Linz, 4020 Linz, Austria.
Ceballos-Baumann A; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Schön Klinik München Schwabing, 80804 Munich, Germany.
Alhaddad B; Institut für Humangenetik, Technische Universität München, 81675 Munich, Germany.
Berutti R; Institut für Humangenetik, Helmholtz Zentrum München, 85764 Munich, Germany.
Poewe W; Department of Neurology, Medical University Innsbruck, 6020 Innsbruck, Austria.
Haack TB; Institut für Humangenetik, Technische Universität München, 81675 Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, 85764 Munich, Germany; Devision of Molecular Genetics, Universitätsklinikum Tübingen, 72076 Tübingen, Germany.
Haslinger B; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany.
Strom TM; Institut für Humangenetik, Technische Universität München, 81675 Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, 85764 Munich, Germany.
Winkelmann J; Institut für Neurogenomik, Helmholtz Zentrum München, 85764 Munich, Germany; Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Institut für Humangenetik, Technische Universität München, 81675 Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, 81377 Munich, Germany. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2016 Dec 01; Vol. 99 (6), pp. 1377-1387. Date of Electronic Publication: 2016 Nov 10.
Typ publikacji :
Journal Article
MeSH Terms :
Dystonic Disorders/*genetics
Haploinsufficiency/*genetics
Histone-Lysine N-Methyltransferase/*genetics
Lysine/*metabolism
Adolescent ; Adult ; Age of Onset ; Base Sequence ; Child ; Female ; Humans ; Male ; Pedigree ; Young Adult
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
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 :
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
Autorzy :
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan. Electronic address: .
Fukai R; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Ohba C; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Chihara T; Department of Biological Science, Graduate School of Science, Hiroshima University, Hiroshima 739-8526, Japan.
Miura M; Department of Genetics, Graduate School of Pharmaceutical Sciences, The University of Tokyo, Tokyo 113-0033, Japan; Agency for Medical Research and Development-Core Research for Evolutional Medical Science and Technology (AMED-CREST), Japan Agency for Medical Research and Development, Tokyo 100-0004, Japan.
Shimizu H; Department of Pathology, Brain Research Institute, University of Niigata, Niigata 951-8585, Japan.
Kakita A; Department of Pathology, Brain Research Institute, University of Niigata, Niigata 951-8585, Japan.
Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Okuno-Yuguchi J; Department of Neuropediatrics, Nagano Children's Hospital, Azumino 399-8205, Japan.
Fueki N; Division of Rehabilitation, Nagano Children's Hospital, Azumino 399-8205, Japan.
Ogiso Y; Department of Clinical Pathology, Nagano Children's Hospital, Azumino 399-8288, Japan.
Suzumura H; Department of Pediatrics, Dokkyo Medical University School of Medicine, Tochigi 321-0293, Japan.
Watabe Y; Department of Pediatrics, Dokkyo Medical University School of Medicine, Tochigi 321-0293, Japan.
Imataka G; Department of Pediatrics, Dokkyo Medical University School of Medicine, Tochigi 321-0293, Japan.
Leong HY; Genetics Department, Hospital Kuala Lumpur, Kuala Lumpur 50586, Malaysia.
Fattal-Valevski A; Pediatric Neurology Unit, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
Kramer U; Pediatric Neurology Unit, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan.
Okamoto N; Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka 594-1101, Japan.
Sato Y; Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Mitsuhashi S; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan; Department of Medical Genome Development, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo 187-8551, Japan.
Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan; Department of Medical Genome Development, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo 187-8551, Japan.
Kaneko N; Department of Immunology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Nishiyama A; Department of Immunology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Tamura T; Department of Immunology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Nakashima M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Tanaka F; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu 431-3192, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2016 Oct 06; Vol. 99 (4), pp. 950-961. Date of Electronic Publication: 2016 Sep 22.
Typ publikacji :
Journal Article
MeSH Terms :
Alleles*
Brain Diseases/*genetics
Microtubule-Associated Proteins/*genetics
Mutation/*genetics
Neurodegenerative Diseases/*genetics
Adolescent ; Age of Onset ; Amino Acid Sequence ; Animals ; Brain Diseases/pathology ; Brain Diseases/physiopathology ; Child ; Child, Preschool ; Drosophila melanogaster/genetics ; Exome ; Female ; Frameshift Mutation/genetics ; GTP-Binding Proteins/metabolism ; Humans ; Infant ; Infant, Newborn ; Male ; Microtubule-Associated Proteins/chemistry ; Microtubule-Associated Proteins/metabolism ; Microtubules/metabolism ; Molecular Chaperones/genetics ; Molecular Chaperones/metabolism ; Neurodegenerative Diseases/pathology ; Neurodegenerative Diseases/physiopathology ; Pedigree ; RNA Splice Sites/genetics ; Tubulin/metabolism ; Young Adult
Czasopismo naukowe
Tytuł :
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
Autorzy :
Sferra A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
Baillat G; Institut de Neurosciences de la Timone, UMR 7289 CNRS Aix-Marseille University, 13005 Marseille, France.
Rizza T; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
Barresi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
Flex E; Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Tasca G; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
D'Amico A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
Bellacchio E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy; Centro di Ricerca per gli alimenti e la nutrizione, CREA, 00178 Rome, Italy.
Caputo V; Department of Experimental Medicine, Università La Sapienza, 00161 Rome, Italy.
Cecchetti S; Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, 00161 Rome, Italy.
Torella A; Department of Biochemistry, Biophysics and General Pathology, Seconda Università degli Studi di Napoli, 80138 Naples, Italy; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Italy.
Zanni G; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
Diodato D; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
Piermarini E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
Coppola A; Department of Neuroscience, Reproductive and Odontostomatological Sciences, Università degli Studi di Napoli Federico II, 80131 Naples, Italy.
Tedeschi E; Department of Advanced Biomedical Sciences, Università degli Studi di Napoli Federico II, 80131 Naples, Italy.
Martinelli D; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
Dionisi-Vici C; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
Nigro V; Department of Biochemistry, Biophysics and General Pathology, Seconda Università degli Studi di Napoli, 80138 Naples, Italy; Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Italy.
Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
Compagnucci C; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy. Electronic address: .
Haase G; Institut de Neurosciences de la Timone, UMR 7289 CNRS Aix-Marseille University, 13005 Marseille, France.
Bertini E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2016 Oct 06; Vol. 99 (4), pp. 974-983. Date of Electronic Publication: 2016 Sep 22.
Typ publikacji :
Journal Article
MeSH Terms :
Brain Diseases/*complications
Brain Diseases/*genetics
Molecular Chaperones/*genetics
Muscular Atrophy, Spinal/*complications
Muscular Atrophy, Spinal/*genetics
Mutation/*genetics
Adolescent ; Age of Onset ; Animals ; Child ; Female ; Fibroblasts ; Heterozygote ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Italy ; Male ; Mice ; Microtubules/drug effects ; Microtubules/metabolism ; Microtubules/pathology ; Molecular Chaperones/metabolism ; Nocodazole/pharmacology ; Spindle Apparatus/metabolism ; Spindle Apparatus/pathology ; Tubulin/metabolism ; Young Adult
Czasopismo naukowe

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