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. StaropoliJF; Biogen, Cambridge, Massachusetts.; Vertex Pharmaceuticals, Boston, Massachusetts. Swoboda KJ; Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.
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. StaropoliJF; 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.
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. StaropoliJF; 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
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. StaropoliJF; 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.
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:
StaropoliJF; 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.
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. StaropoliJF; 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.
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 StaropoliJF Sims KB
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
Autorzy:
StaropoliJF; 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
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. StaropoliJF
Translocation t(1;9) is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displaying the JAK2 V617F mutation.
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