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Tytuł:
Increased systemic HSP70B levels in spinal muscular atrophy infants.
Autorzy:
Eichelberger EJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.
Alves CRR; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.
Zhang R; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.
Petrillo M; Biogen, Cambridge, Massachusetts.
Cullen P; Biogen, Cambridge, Massachusetts.
Farwell W; Biogen, Cambridge, Massachusetts.
Hurt JA; Biogen, Cambridge, Massachusetts.
Staropoli JF; Biogen, Cambridge, Massachusetts.; Vertex Pharmaceuticals, Boston, Massachusetts.
Swoboda KJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2021 Jul; Vol. 8 (7), pp. 1495-1501. Date of Electronic Publication: 2021 May 15.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
HSP70 Heat-Shock Proteins/*blood
Muscular Atrophy, Spinal/*blood
Muscular Atrophy, Spinal/*diagnosis
Biomarkers/blood ; Cohort Studies ; Female ; Humans ; Infant ; Infant, Newborn ; Longitudinal Studies ; Male
Czasopismo naukowe
Tytuł:
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.
Autorzy:
De Vivo DC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA. Electronic address: .
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.
Swoboda KJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Hwu WL; Departments of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Crawford TO; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Finkel RS; Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA.
Kirschner J; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Department of Neuropediatrics, University Medical Hospital, Bonn, Germany.
Kuntz NL; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Parsons JA; Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA.
Ryan MM; Royal Children's Hospital, University of Melbourne, Murdoch Children's Research Institute, Melbourne, Australia.
Butterfield RJ; Department of Pediatrics and Neurology, University of Utah, Salt Lake City, UT, USA.
Topaloglu H; Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey.
Ben-Omran T; Sidra Medicine, Department of Pediatrics, Qatar Foundation, Doha, Qatar; Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
Sansone VA; NEMO Clinical Center - NEuroMuscular Omniservice, Milan, Italy; Department of Biomedical Sciences for Health, Università degli Studi di Milano, Milan, Italy.
Jong YJ; Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University; Departments of Pediatrics and Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
Shu F; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Staropoli JF; Biogen, Cambridge, MA, USA.
Kerr D; Biogen, Cambridge, MA, USA.
Sandrock AW; Biogen, Cambridge, MA, USA.
Stebbins C; Biogen, Cambridge, MA, USA.
Petrillo M; Biogen, Cambridge, MA, USA.
Braley G; Biogen, Cambridge, MA, USA.
Johnson K; Biogen, Cambridge, MA, USA.
Foster R; Biogen, Maidenhead, Berkshire, UK.
Gheuens S; Biogen, Cambridge, MA, USA.
Bhan I; Biogen, Cambridge, MA, USA.
Reyna SP; Biogen, Cambridge, MA, USA.
Fradette S; Biogen, Cambridge, MA, USA.
Farwell W; Biogen, Cambridge, MA, USA.
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Corporate Authors:
NURTURE Study Group
Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2019 Nov; Vol. 29 (11), pp. 842-856. Date of Electronic Publication: 2019 Sep 12.
Typ publikacji:
Clinical Trial, Phase II; Journal Article; Multicenter Study
MeSH Terms:
Muscular Atrophy, Spinal/*therapy
Oligonucleotides/*administration & dosage
Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Male ; Motor Activity ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/physiopathology ; Oligonucleotides/adverse effects ; Survival of Motor Neuron 2 Protein/genetics ; Time Factors ; Treatment Outcome
Czasopismo naukowe
Tytuł:
Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.
Autorzy:
Henderson MX; Program in Cellular Neuroscience, Neurodegeneration and Repair, Yale University, New Haven, CT, USA.; Department of Neurology, Yale University, New Haven, CT, USA.; Interdepartmental Neuroscience Program, Yale University, New Haven, CT, USA.
Wirak GS; Program in Cellular Neuroscience, Neurodegeneration and Repair, Yale University, New Haven, CT, USA.; Department of Neurology, Yale University, New Haven, CT, USA.
Zhang YQ; Program in Cellular Neuroscience, Neurodegeneration and Repair, Yale University, New Haven, CT, USA.; Department of Neurology, Yale University, New Haven, CT, USA.
Dai F; Yale Center for Analytical Services, New Haven, CT, USA.
Ginsberg SD; Nathan Kline Institute, Orangeburg, NY, USA.; Departments of Psychiatry and Physiology and Neuroscience, New York University Langone Medical Center, New York, NY, USA.
Dolzhanskaya N; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA.
Staropoli JF; Department of Neurology, Center for Human Genetics Research, Massachusetts General Hospital, Boston, MA, USA.; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.; Biogen Idec, Cambridge, MA, 02142, USA.
Nijssen PC; Department of Neurology, St. Elisabeth Hospital, 5022 GC, Tilburg, Netherlands.
Lam TT; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.
Roth AF; Department of Pharmacology, Wayne State University, Detroit, MI, USA.
Davis NG; Department of Pharmacology, Wayne State University, Detroit, MI, USA.
Dawson G; Department of Pediatrics, University of Chicago, Chicago, IL, USA.
Velinov M; Department of Pediatrics, Albert Einstein College of Medicine, New York, NY, USA.; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA.
Chandra SS; Program in Cellular Neuroscience, Neurodegeneration and Repair, Yale University, New Haven, CT, USA. .; Department of Neurology, Yale University, New Haven, CT, USA. .; Interdepartmental Neuroscience Program, Yale University, New Haven, CT, USA. .; Department of Molecular Cell and Developmental Biology, Yale University, New Haven, CT, USA. .
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Źródło:
Acta neuropathologica [Acta Neuropathol] 2016 Apr; Vol. 131 (4), pp. 621-37. Date of Electronic Publication: 2015 Dec 10.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Brain/*metabolism
HSP40 Heat-Shock Proteins/*genetics
Membrane Proteins/*genetics
Mutation/*genetics
Neuronal Ceroid-Lipofuscinoses/*genetics
Neuronal Ceroid-Lipofuscinoses/*pathology
Thiolester Hydrolases/*metabolism
Animals ; Brain/pathology ; Cells, Cultured ; Cerebral Cortex/cytology ; Female ; HSP40 Heat-Shock Proteins/deficiency ; Humans ; Lipoylation/genetics ; Lipoylation/physiology ; Male ; Membrane Proteins/deficiency ; Mice ; Mice, Knockout ; Models, Biological ; Neurons/drug effects ; Neurons/metabolism ; Protein Interaction Maps ; Proteomics ; Subcellular Fractions/metabolism ; Subcellular Fractions/pathology ; Transfection
Czasopismo naukowe
Tytuł:
Redefining the MED13L syndrome.
Autorzy:
Adegbola A; Department of Developmental and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Musante L; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Maciel P; Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Campus de Gualtar, Braga, Portugal.; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
Hu H; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
Isidor B; CHU Nantes, Service de Genetique Medicale, Institut de Biologie, Nantes, France.; INSERM, UMR 957, Pathophysiology of Bone Resorption and Therapy of Primary Bone Tumours, Equipe Ligue Contre le Cancer 2012, Université de Nantes, Nantes, France.
Picker-Minh S; Department of Pediatric Neurology, Charité University Medicine, Berlin, Germany.; Institute of Cell Biology and Neurobiology, Charité University Medicine, Berlin, Germany.
Le Caignec C; CHU Nantes, Service de Genetique Medicale, Institut de Biologie, Nantes, France.; INSERM, UMR 957, Pathophysiology of Bone Resorption and Therapy of Primary Bone Tumours, Equipe Ligue Contre le Cancer 2012, Université de Nantes, Nantes, France.
Delle Chiaie B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Vanakker O; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Menten B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Dheedene A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Bockaert N; Pediatric Neurology, Ghent University Hospital, Ghent, Belgium.
Roelens F; Pediatrics Department, Heilig Hart Hospital, Roeselare, Belgium.
Decaestecker K; Pediatrics Department, Stedelijk Ziekenhuis, Roeselare, Belgium.
Silva J; Institute for Molecular and Celular Biology (IBMC), Porto, Portugal.
Soares G; Center for Medical Genetics Dr Jacinto Magalhães, Porto Hospital Centre, Porto, Portugal.
Lopes F; Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Campus de Gualtar, Braga, Portugal.; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal.
Najmabadi H; Genetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Kahrizi K; Genetic Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Cox GF; Division of Genetics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Angus SP; Department of Pharmacology, Lineberger Comprehensive Cancer Center, University of North Carolina School of Medicine, Chapel Hill, NC, USA.
Staropoli JF; Biogen Idec, 12 Cambridge Center, Building 6, Cambridge, MA, USA.
Fischer U; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
Suckow V; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
Bartsch O; Institute of Human Genetics, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany.
Chess A; Department of Developmental and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Ropers HH; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
Wienker TF; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
Hübner C; Department of Pediatric Neurology, Charité University Medicine, Berlin, Germany.
Kaindl AM; Department of Pediatric Neurology, Charité University Medicine, Berlin, Germany.; Institute of Cell Biology and Neurobiology, Charité University Medicine, Berlin, Germany.
Kalscheuer VM; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Oct; Vol. 23 (10), pp. 1308-17. Date of Electronic Publication: 2015 Mar 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Abnormalities, Multiple/*genetics
Mediator Complex/*genetics
Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Intellectual Disability/genetics ; Male ; Muscle Hypotonia/genetics ; Mutation/genetics ; Phenotype ; Syndrome ; Transposition of Great Vessels/genetics
Czasopismo naukowe
Tytuł:
Rescue of gene-expression changes in an induced mouse model of spinal muscular atrophy by an antisense oligonucleotide that promotes inclusion of SMN2 exon 7.
Autorzy:
Staropoli JF; Division of Genetics and Genomics, Biogen Idec, 12 Cambridge Center, Cambridge, MA 02142, USA.
Li H; Division of Genetics and Genomics, Biogen Idec, 12 Cambridge Center, Cambridge, MA 02142, USA.
Chun SJ; Neuroscience Drug Discovery, Isis Pharmaceuticals, Inc., 2855 Gazelle Court, Carlsbad, CA 92010, USA.
Allaire N; Division of Genetics and Genomics, Biogen Idec, 12 Cambridge Center, Cambridge, MA 02142, USA.
Cullen P; Neuroscience Drug Discovery, Isis Pharmaceuticals, Inc., 2855 Gazelle Court, Carlsbad, CA 92010, USA.
Thai A; Division of Genetics and Genomics, Biogen Idec, 12 Cambridge Center, Cambridge, MA 02142, USA.
Fleet CM; Division of Genetics and Genomics, Biogen Idec, 12 Cambridge Center, Cambridge, MA 02142, USA.
Hua Y; Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA.
Bennett CF; Neuroscience Drug Discovery, Isis Pharmaceuticals, Inc., 2855 Gazelle Court, Carlsbad, CA 92010, USA.
Krainer AR; Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA.
Kerr D; Division of Genetics and Genomics, Biogen Idec, 12 Cambridge Center, Cambridge, MA 02142, USA.
McCampbell A; Division of Genetics and Genomics, Biogen Idec, 12 Cambridge Center, Cambridge, MA 02142, USA.
Rigo F; Neuroscience Drug Discovery, Isis Pharmaceuticals, Inc., 2855 Gazelle Court, Carlsbad, CA 92010, USA.
Carulli JP; Division of Genetics and Genomics, Biogen Idec, 12 Cambridge Center, Cambridge, MA 02142, USA. Electronic address: .
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Źródło:
Genomics [Genomics] 2015 Apr; Vol. 105 (4), pp. 220-8. Date of Electronic Publication: 2015 Jan 31.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exons*
Gene Expression*/drug effects
Muscular Atrophy, Spinal/*genetics
Oligonucleotides, Antisense/*pharmacology
Animals ; Disease Models, Animal ; Mice ; Muscular Atrophy, Spinal/drug therapy ; Spinal Cord/drug effects ; Spinal Cord/metabolism ; Survival of Motor Neuron 2 Protein/drug effects ; Survival of Motor Neuron 2 Protein/genetics
Czasopismo naukowe
Tytuł:
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
Autorzy:
Cirulli ET; Center for Applied Genomics and Precision Medicine, Duke University School of Medicine, Durham, NC 27708, USA.
Lasseigne BN; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Petrovski S; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
Sapp PC; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA.
Dion PA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 2B4, Canada.
Leblond CS; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 2B4, Canada.
Couthouis J; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Lu YF; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
Wang Q; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
Krueger BJ; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
Ren Z; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
Keebler J; Duke University School of Medicine, Durham, NC 27708, USA.
Han Y; Duke University School of Medicine, Durham, NC 27708, USA.
Levy SE; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Boone BE; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Wimbish JR; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Waite LL; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Jones AL; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Carulli JP; Biogen Idec, Cambridge, MA 02142, USA.
Day-Williams AG; Biogen Idec, Cambridge, MA 02142, USA.
Staropoli JF; Biogen Idec, Cambridge, MA 02142, USA.
Xin WW; Neurogenetics DNA Diagnostic Laboratory, Center for Human Genetics Research, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.
Chesi A; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Raphael AR; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
McKenna-Yasek D; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA.
Cady J; Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Vianney de Jong JM; Department of Genome Analysis, Academic Medical Center, Meibergdreef 9, 1105AZ Amsterdam, Netherlands.
Kenna KP; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Republic of Ireland.
Smith BN; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK.
Topp S; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK.
Miller J; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK.
Gkazi A; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK.
Al-Chalabi A; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK.
van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Centre Utrecht, 3508 GA Utrecht, Netherlands.
Veldink J; Department of Neurology, Brain Center Rudolf Magnus, University Medical Centre Utrecht, 3508 GA Utrecht, Netherlands.
Silani V; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan 20149, Italy, and Department of Pathophysiology and Transplantation, Dino Ferrari Center, Università degli Studi di Milano, Milan 20122, Italy.
Ticozzi N; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan 20149, Italy, and Department of Pathophysiology and Transplantation, Dino Ferrari Center, Università degli Studi di Milano, Milan 20122, Italy.
Shaw CE; Department of Basic and Clinical Neuroscience, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London SE5 8AF, UK.
Baloh RH; Cedars Sinai Medical Center, Los Angeles, CA 90048, USA.
Appel S; Houston Methodist Hospital, Houston, TX 77030, USA, and Weill Cornell Medical College of Cornell University, New York, NY 10065, USA.
Simpson E; Houston Methodist Hospital, Houston, TX 77030, USA, and Weill Cornell Medical College of Cornell University, New York, NY 10065, USA.
Lagier-Tourenne C; Ludwig Institute for Cancer Research and Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Pulst SM; Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Gibson S; Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Trojanowski JQ; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Elman L; Department of Neurology, Penn ALS Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
McCluskey L; Department of Neurology, Penn ALS Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Grossman M; Department of Neurology, Penn Frontotemporal Degeneration Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Shneider NA; Department of Neurology, Center for Motor Neuron Biology and Disease, Columbia University, New York, NY 10032, USA.
Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA.
Ravits JM; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Glass JD; Department of Neurology, Emory University, Atlanta, GA 30322, USA.
Sims KB; Neurogenetics DNA Diagnostic Laboratory, Center for Human Genetics Research, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.
Van Deerlin VM; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Maniatis T; Department of Biochemistry & Molecular Biophysics, Columbia University, New York, NY 10027, USA.
Hayes SD; Biogen Idec, Cambridge, MA 02142, USA. Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
Ordureau A; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
Swarup S; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
Landers J; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA.
Baas F; Department of Genome Analysis, Academic Medical Center, Meibergdreef 9, 1105AZ Amsterdam, Netherlands.
Allen AS; Department of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC 27708, USA.
Bedlack RS; Duke ALS Clinic and Durham VA Medical Center, Durham, NC 27708, USA.
Harper JW; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
Gitler AD; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Rouleau GA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 2B4, Canada.
Brown R; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01655, USA.
Harms MB; Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Harris T; Biogen Idec, Cambridge, MA 02142, USA. .
Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Goldstein DB; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
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Corporate Authors:
FALS Sequencing Consortium
Źródło:
Science (New York, N.Y.) [Science] 2015 Mar 27; Vol. 347 (6229), pp. 1436-41. Date of Electronic Publication: 2015 Feb 19.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Predisposition to Disease*
Amyotrophic Lateral Sclerosis/*genetics
Autophagy/*genetics
Exome/*genetics
Protein Serine-Threonine Kinases/*genetics
Adaptor Proteins, Signal Transducing/genetics ; Adaptor Proteins, Signal Transducing/metabolism ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Cell Cycle Proteins ; Female ; Genes ; Genetic Association Studies ; Humans ; Male ; Membrane Transport Proteins ; Middle Aged ; Protein Binding ; Protein Serine-Threonine Kinases/metabolism ; Risk ; Sequence Analysis, DNA ; Sequestosome-1 Protein ; Transcription Factor TFIIIA/genetics ; Transcription Factor TFIIIA/metabolism ; Young Adult
Czasopismo naukowe
Tytuł:
Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.
Autorzy:
Cotman SL; Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, 185 Cambridge St, Boston, MA 02114, USA. />Karaa A
Staropoli JF
Sims KB
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Źródło:
Current neurology and neuroscience reports [Curr Neurol Neurosci Rep] 2013 Aug; Vol. 13 (8), pp. 366.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Neuronal Ceroid-Lipofuscinoses/*diagnosis
Neuronal Ceroid-Lipofuscinoses/*genetics
Genotype ; Humans ; Phenotype
Czasopismo naukowe
Tytuł:
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
Autorzy:
Staropoli JF; Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, USA.
Karaa A
Lim ET
Kirby A
Elbalalesy N
Romansky SG
Leydiker KB
Coppel SH
Barone R
Xin W
MacDonald ME
Abdenur JE
Daly MJ
Sims KB
Cotman SL
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Źródło:
American journal of human genetics [Am J Hum Genet] 2012 Jul 13; Vol. 91 (1), pp. 202-8. Date of Electronic Publication: 2012 Jun 28.
Typ publikacji:
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Neuronal Ceroid-Lipofuscinoses/*genetics
Potassium Channels/*genetics
Animals ; Child, Preschool ; Female ; HEK293 Cells ; Humans ; Infant ; Male ; Mice ; Mice, Inbred C57BL ; Pedigree ; Proteasome Endopeptidase Complex/genetics ; Ubiquitin/genetics
Czasopismo naukowe
Tytuł:
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
Autorzy:
Staropoli JF; Neurogenetics DNA Diagnostic Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA. />Xin W
Barone R
Cotman SL
Sims KB
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Źródło:
BMC medical genetics [BMC Med Genet] 2012 Jun 24; Vol. 13, pp. 50. Date of Electronic Publication: 2012 Jun 24.
Typ publikacji:
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA-Directed DNA Polymerase/*genetics
Neuronal Ceroid-Lipofuscinoses/*genetics
Comparative Genomic Hybridization ; DNA Polymerase gamma ; DNA, Mitochondrial/metabolism ; Heterozygote ; Humans ; Infant, Newborn ; Lysosomal Membrane Proteins ; Magnetic Resonance Imaging ; Membrane Potential, Mitochondrial ; Membrane Proteins/genetics ; Neuronal Ceroid-Lipofuscinoses/pathology ; Oxidative Phosphorylation ; Phenotype ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł:
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
Autorzy:
Smith KR; Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.
Damiano J
Franceschetti S
Carpenter S
Canafoglia L
Morbin M
Rossi G
Pareyson D
Mole SE
Staropoli JF
Sims KB
Lewis J
Lin WL
Dickson DW
Dahl HH
Bahlo M
Berkovic SF
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Źródło:
American journal of human genetics [Am J Hum Genet] 2012 Jun 08; Vol. 90 (6), pp. 1102-7. Date of Electronic Publication: 2012 May 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Intercellular Signaling Peptides and Proteins/*genetics
Animals ; Chromosome Mapping ; DNA Mutational Analysis ; Dementia/genetics ; Family Health ; Female ; Genetic Linkage ; Heterozygote ; Homozygote ; Humans ; Lod Score ; Male ; Mice ; Pedigree ; Phenotype ; Progranulins
Czasopismo naukowe
Tytuł:
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking.
Autorzy:
Cotman SL; Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA.
Staropoli JF
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Źródło:
Clinical lipidology [Clin Lipidol] 2012 Feb; Vol. 7 (1), pp. 79-91.
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.
Autorzy:
Brown JA; Neurogenetics DNA Diagnostic Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA.
Min J
Staropoli JF
Collin E
Bi S
Feng X
Barone R
Cao Y
O'Malley L
Xin W
Mullen TE
Sims KB
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Źródło:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases [Amyotroph Lateral Scler] 2012 Feb; Vol. 13 (2), pp. 217-22.
Typ publikacji:
Journal Article
MeSH Terms:
Clinical Laboratory Techniques*
Amyotrophic Lateral Sclerosis/*genetics
DNA-Binding Proteins/*genetics
RNA-Binding Protein FUS/*genetics
Ribonuclease, Pancreatic/*genetics
Superoxide Dismutase/*genetics
Amyotrophic Lateral Sclerosis/physiopathology ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Mutation ; Phenotype ; Superoxide Dismutase-1 ; United States
Czasopismo naukowe
Tytuł:
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.
Autorzy:
Velinov M; New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America. />Dolzhanskaya N
Gonzalez M
Powell E
Konidari I
Hulme W
Staropoli JF
Xin W
Wen GY
Barone R
Coppel SH
Sims K
Brown WT
Züchner S
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Źródło:
PloS one [PLoS One] 2012; Vol. 7 (1), pp. e29729. Date of Electronic Publication: 2012 Jan 03.
Typ publikacji:
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Pedigree*
Genes, Dominant/*genetics
HSP40 Heat-Shock Proteins/*genetics
Membrane Proteins/*genetics
Neuronal Ceroid-Lipofuscinoses/*genetics
Adolescent ; Adult ; Exome/genetics ; Female ; Humans ; Male ; Middle Aged ; Sequence Analysis ; Young Adult
Czasopismo naukowe
Tytuł:
Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.
Autorzy:
Staropoli JF; Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America.
Haliw L
Biswas S
Garrett L
Hölter SM
Becker L
Skosyrski S
Da Silva-Buttkus P
Calzada-Wack J
Neff F
Rathkolb B
Rozman J
Schrewe A
Adler T
Puk O
Sun M
Favor J
Racz I
Bekeredjian R
Busch DH
Graw J
Klingenspor M
Klopstock T
Wolf E
Wurst W
Zimmer A
Lopez E
Harati H
Hill E
Krause DS
Guide J
Dragileva E
Gale E
Wheeler VC
Boustany RM
Brown DE
Breton S
Ruether K
Gailus-Durner V
Fuchs H
de Angelis MH
Cotman SL
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Źródło:
PloS one [PLoS One] 2012; Vol. 7 (6), pp. e38310. Date of Electronic Publication: 2012 Jun 06.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Disease Models, Animal*
Phenotype*
Membrane Glycoproteins/*metabolism
Molecular Chaperones/*metabolism
Neuronal Ceroid-Lipofuscinoses/*pathology
Retinal Degeneration/*pathology
Analysis of Variance ; Animals ; Body Temperature ; Brain/pathology ; Electroretinography ; Exploratory Behavior/physiology ; Female ; Ferritins/blood ; Genotype ; Heart/growth & development ; Immunohistochemistry ; Lymphocytes/pathology ; Male ; Membrane Glycoproteins/genetics ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; Molecular Chaperones/genetics ; Neuronal Ceroid-Lipofuscinoses/complications ; Neuronal Ceroid-Lipofuscinoses/genetics ; Neuronal Ceroid-Lipofuscinoses/metabolism ; Organ Size ; Oxygen Consumption/physiology ; Retinal Degeneration/etiology
Czasopismo naukowe
Tytuł:
Translocation t(1;9) is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displaying the JAK2 V617F mutation.
Autorzy:
Leon A; GenPath, BioReference Laboratories, Elmwood Park, NJ, USA. />Staropoli JF
Hernandez JM
Longtine JA
Kuo FC
Dal Cin P
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Źródło:
Leukemia research [Leuk Res] 2011 Sep; Vol. 35 (9), pp. 1188-92. Date of Electronic Publication: 2011 Mar 03.
Typ publikacji:
Journal Article
MeSH Terms:
Chromosomes, Human, Pair 1*/genetics
Chromosomes, Human, Pair 9*/genetics
Translocation, Genetic*
Janus Kinase 2/*genetics
Thrombocythemia, Essential/*genetics
Aged ; Aged, 80 and over ; Amino Acid Substitution/genetics ; Amino Acid Substitution/physiology ; Chromosome Aberrations ; Cohort Studies ; Disease Progression ; Female ; Humans ; Male ; Middle Aged ; Mutation, Missense/genetics ; Mutation, Missense/physiology ; Phenylalanine/genetics ; Recurrence ; Thrombocythemia, Essential/pathology ; Valine/genetics
Czasopismo naukowe
Tytuł:
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
Autorzy:
Nosková L; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
Stránecký V
Hartmannová H
Přistoupilová A
Barešová V
Ivánek R
Hůlková H
Jahnová H
van der Zee J
Staropoli JF
Sims KB
Tyynelä J
Van Broeckhoven C
Nijssen PC
Mole SE
Elleder M
Kmoch S
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Źródło:
American journal of human genetics [Am J Hum Genet] 2011 Aug 12; Vol. 89 (2), pp. 241-52. Date of Electronic Publication: 2011 Aug 04.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genes, Dominant/*genetics
HSP40 Heat-Shock Proteins/*genetics
Membrane Proteins/*genetics
Mutation/*genetics
Neuronal Ceroid-Lipofuscinoses/*epidemiology
Neuronal Ceroid-Lipofuscinoses/*genetics
Adult ; Age of Onset ; Base Sequence ; Brain/metabolism ; Brain/pathology ; Brain/ultrastructure ; Chromosome Segregation/genetics ; Exons/genetics ; Family ; Female ; Gene Dosage/genetics ; Gene Expression Regulation ; Genetic Linkage ; Humans ; Lipoylation ; Lysosomes/metabolism ; Lysosomes/ultrastructure ; Male ; Molecular Sequence Data ; Neuronal Ceroid-Lipofuscinoses/pathology ; Neurons/metabolism ; Neurons/pathology ; Neurons/ultrastructure ; Pedigree ; Protein Transport ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł:
Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells.
Autorzy:
Cao Y; Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America.
Staropoli JF
Biswas S
Espinola JA
MacDonald ME
Lee JM
Cotman SL
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Źródło:
PloS one [PLoS One] 2011 Feb 17; Vol. 6 (2), pp. e17118. Date of Electronic Publication: 2011 Feb 17.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Cerebellum/*metabolism
Membrane Glycoproteins/*physiology
Membrane Proteins/*physiology
Mitochondrial Proton-Translocating ATPases/*metabolism
Molecular Chaperones/*physiology
Neuronal Ceroid-Lipofuscinoses/*genetics
Animals ; Cell Survival/genetics ; Cells, Cultured ; Cerebellum/pathology ; Cluster Analysis ; Gene Expression Profiling ; Humans ; Membrane Glycoproteins/genetics ; Membrane Proteins/genetics ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; Microarray Analysis ; Molecular Chaperones/genetics ; Mutation/physiology ; Neuronal Ceroid-Lipofuscinoses/metabolism ; Neuronal Ceroid-Lipofuscinoses/pathology ; Neurons/metabolism ; Neurons/pathology ; Neurons/physiology ; Protein Subunits/metabolism ; Signal Transduction/genetics ; Signal Transduction/physiology ; Time Factors
SCR Disease Name:
Ceroid lipofuscinosis, neuronal 5
Czasopismo naukowe

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