Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Dunckley, Travis"'
Autor:
Johnson JO; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland., Chia R; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland., Miller DE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, University of Washington, Seattle., Li R; Department of Pediatrics, Children's Hospital of Richmond at VCU, Richmond, Virginia., Kumaran R; Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland., Abramzon Y; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland.; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Alahmady N; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.; Department of Biology, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia., Renton AE; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York.; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York., Topp SD; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.; UK Dementia Research Institute at King's College London, London, United Kingdom., Gibbs JR; Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland., Cookson MR; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Sabir MS; Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland., Dalgard CL; Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, Maryland.; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, Maryland., Troakes C; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Jones AR; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Shatunov A; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Iacoangeli A; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Al Khleifat A; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Ticozzi N; Istituto Auxologico Italiano, IRCCS, Department of Neurology-Stroke Unit and Laboratory of Neuroscience, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Silani V; Istituto Auxologico Italiano, IRCCS, Department of Neurology-Stroke Unit and Laboratory of Neuroscience, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy., Blair IP; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, Australia., Dobson-Stone C; The University of Sydney, Brain and Mind Centre and School of Medical Sciences, Faculty of Medicine and Health, Camperdown, Australia.; School of Medical Sciences, University of New South Wales, Kensington, Australia., Kwok JB; The University of Sydney, Brain and Mind Centre and School of Medical Sciences, Faculty of Medicine and Health, Camperdown, Australia.; School of Medical Sciences, University of New South Wales, Kensington, Australia., Bonkowski ES; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, University of Washington, Seattle., Palvadeau R; Suna and Inan Kırac Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koc University, Istanbul, Turkey., Tienari PJ; Department of Neurology, Helsinki University Hospital and Translational Immunology Programme, Biomedicum, University of Helsinki, Helsinki, Finland., Morrison KE; Faculty of Medicine, Health and Life Sciences, Queen's University Belfast, Belfast, United Kingdom., Shaw PJ; Sheffield Institute for Translational Neuroscience, Department of Neuroscience, University of Sheffield, Sheffield, United Kingdom., Al-Chalabi A; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.; Department of Neurology, King's College Hospital, London, United Kingdom., Brown RH Jr; Department of Neurology, University of Massachusetts Medical School, Worcester., Calvo A; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Mora G; ALS Center, ICS Maugeri, IRCCS, Milan, Italy., Al-Saif H; Department of Neurology, Children's Hospital of Richmond at VCU, Richmond, Virginia., Gotkine M; Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Leigh F; Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle., Chang IJ; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle., Perlman SJ; Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle., Glass I; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, University of Washington, Seattle., Scott AI; Department of Laboratories, Seattle Children's Hospital, Seattle, Washington.; Department of Laboratory Medicine, University of Washington, Seattle., Shaw CE; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.; UK Dementia Research Institute at King's College London, London, United Kingdom., Basak AN; Suna and Inan Kırac Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koc University, Istanbul, Turkey., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester., Chiò A; ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Neurology 1, AOU Città della Salute e della Scienza, Turin, Italy., Crawford TO; Department of Neurology, Johns Hopkins University, Baltimore, Maryland.; Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland., Smith BN; Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom., Traynor BJ; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland.; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Department of Neurology, Johns Hopkins University, Baltimore, Maryland.; National Institute of Neurological Disorders and Stroke, Bethesda, Maryland., Smith BN; Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, Institute of Psychiatry, London, United Kingdom., Ticozzi N; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Fallini C; Department of Neurology, University of Massachusetts Medical School, Worcester., Gkazi AS; Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, Institute of Psychiatry, London, United Kingdom., Topp SD; Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, Institute of Psychiatry, London, United Kingdom.; UK Dementia Research Institute at King's College London, London, United Kingdom., Scotter EL; Centre for Brain Research, University of Auckland, Auckland, New Zealand., Kenna KP; Department of Neurology, University of Massachusetts Medical School, Worcester., Keagle P; Department of Neurology, University of Massachusetts Medical School, Worcester., Tiloca C; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy., Vance C; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London, United Kingdom., Troakes C; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London, United Kingdom., Colombrita C; Department of Neurology, IRCCS Istituto Auxologico Italiano, Milan, Italy., King A; Centre for Neurodegeneration Research, King's College London, Department of Clinical Neuroscience, Institute of Psychiatry, London, United Kingdom., Pensato V; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy., Castellotti B; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy., Baas F; Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Ten Asbroek ALMA; Department of Neurogenetics and Neurology, Academic Medical Centre, Amsterdam, the Netherlands., McKenna-Yasek D; Department of Neurology, University of Massachusetts Medical School, Worcester., McLaughlin RL; Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Republic of Ireland., Polak M; Department of Neurology, Emory University, Atlanta, Georgia., Asress S; Department of Neurology, Emory University, Atlanta, Georgia., Esteban-Pérez J; Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid, Spain., Stevic Z; Neurology Clinic, Clinical Center of Serbia School of Medicine, University of Belgrade, Belgrade, Serbia., D'Alfonso S; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy., Mazzini L; ALS Center, Azienda Ospedaliero Universitaria Maggiore della Carità, Novara, Italy., Comi GP; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Del Bo R; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Ceroni M; Department of Brain and Behavior, University of Pavia, Pavia, Italy.; General Neurology Unit, IRCCS Mondino Foundation, Pavia, Italy., Gagliardi S; Genomic and Post-Genomic Center, Mondino Foundation-IRCCS, Pavia, Italy., Querin G; Department of Neurosciences, University of Padova, Padova, Italy., Bertolin C; Department of Neurosciences, University of Padova, Padova, Italy., van Rheenen W; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Rademakers R; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida., van Blitterswijk M; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida., Lauria G; 3rd Neurology Unit, Motor Neuron Diseases Center, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy., Duga S; Humanitas Clinical and Research Center-IRCCS, Milan, Italy.; Department of Biomedical Sciences, Humanitas University, Milan, Italy., Corti S; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Cereda C; Genomic and Post-Genomic Center, Mondino Foundation-IRCCS, Pavia, Italy., Corrado L; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy., Sorarù G; Department of Neurosciences, University of Padova, Padova, Italy., Williams KL; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, Australia., Nicholson GA; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, Australia.; Molecular Medicine Laboratory, Clinical Sciences Building, Concord Hospital, Concord, Australia., Blair IP; Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, Australia., Leblond-Manry C; Human Genetics and Cognitive Functions Unit, Institut Pasteur, Paris, France., Rouleau GA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada., Hardiman O; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Republic of Ireland., Morrison KE; Faculty of Medicine, Health and Life Sciences, Queen's University Belfast, Belfast, United Kingdom., Veldink JH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Al-Chalabi A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London, United Kingdom., Pall H; School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, United Kingdom., Shaw PJ; Sheffield Institute for Translational Neuroscience, Department of Neuroscience, University of Sheffield, Sheffield, United Kingdom., Turner MR; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Talbot K; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy., García-Redondo A; Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid, Spain., Wu Z; Department of Bioinformatics and Computational Biology, Worcester Polytechnic Institute, Worcester, Massachusetts., Glass JD; Department of Neurology, Emory University, Atlanta, Georgia., Gellera C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy., Ratti A; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy., Brown RH Jr; Department of Neurology, University of Massachusetts Medical School, Worcester., Silani V; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Shaw CE; UK Dementia Research Institute at King's College London, London, United Kingdom.; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London, United Kingdom., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester., Dalgard CL; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, Maryland.; Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, Maryland., Adeleye A; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, Maryland.; Henry M. Jackson Foundation for the Advancement of Military Medicine, Bethesda, Maryland., Soltis AR; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, Maryland.; Henry M. Jackson Foundation for the Advancement of Military Medicine, Bethesda, Maryland., Alba C; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, Maryland.; Henry M. Jackson Foundation for the Advancement of Military Medicine, Bethesda, Maryland., Viollet C; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, Maryland.; Henry M. Jackson Foundation for the Advancement of Military Medicine, Bethesda, Maryland., Bacikova D; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, Maryland.; Henry M. Jackson Foundation for the Advancement of Military Medicine, Bethesda, Maryland., Hupalo DN; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, Maryland.; Henry M. Jackson Foundation for the Advancement of Military Medicine, Bethesda, Maryland., Sukumar G; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, Maryland.; Henry M. Jackson Foundation for the Advancement of Military Medicine, Bethesda, Maryland., Pollard HB; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, Maryland.; Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, Maryland., Wilkerson MD; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, Maryland.; Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, Maryland.; Henry M. Jackson Foundation for the Advancement of Military Medicine, Bethesda, Maryland., Martinez EM; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, Maryland.; Henry M. Jackson Foundation for the Advancement of Military Medicine, Bethesda, Maryland., Abramzon Y; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland.; Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, United Kingdom., Ahmed S; Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland., Arepalli S; Genomics Technology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland., Baloh RH; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California., Bowser R; Division of Neurology, Barrow Neurological Institute, Phoenix, Arizona., Brady CB; Research and Development Service, Veterans Affairs Boston Healthcare System, Boston, Massachusetts., Brice A; Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Université Pierre et Marie Curie, Paris, France.; INSERM U975, Paris, France., Broach J; Department of Biochemistry, Penn State College of Medicine, Hershey, Pennsylvania., Campbell RH; Department of Computer Science, University of Illinois at Urbana-Champaign, Urbana., Camu W; ALS Reference Center, Gui de Chauliac Hospital, CHU and University of Montpellier, Montpellier, France., Chia R; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland., Cooper-Knock J; Department of Neuroscience, University of Sheffield, Sheffield, United Kingdom., Ding J; Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland., Drepper C; Institute for Clinical Neurobiology, University of Würzburg, Würzburg, Germany., Drory VE; Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel., Dunckley TL; Neurodegenerative Disease Research Center, Biodesign Institute, Arizona State University, Tempe., Eicher JD; Department of Genetics and Pharmacogenomics, Merck Research Laboratories, Merck, West Point, Pennsylvania., England BK; Human Genetics Branch, National Institute of Mental Health, Bethesda, Maryland., Faghri F; Department of Computer Science, University of Illinois at Urbana-Champaign, Urbana.; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland., Feldman E; Department of Neurology, University of Michigan, Ann Arbor., Floeter MK; Motor Neuron Disorders Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland., Fratta P; Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, United Kingdom., Geiger JT; Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland., Gerhard G; Department of Pathology, Penn State College of Medicine, Hershey, Pennsylvania., Gibbs JR; Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland., Gibson SB; Department of Neurology, University of Utah School of Medicine, Salt Lake City., Glass JD; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia., Hardy J; Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, London, United Kingdom., Harms MB; Department of Neurology, Columbia University, New York, New York., Heiman-Patterson TD; Department of Neurology, Drexel University College of Medicine, Philadelphia, Pennsylvania.; Department of Neurology, Temple University, Philadelphia, Pennsylvania., Hernandez DG; Genomics Technology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland., Jansson L; Department of Neurology, University of Helsinki, Helsinki, Finland., Kirby J; Department of Neuroscience, University of Sheffield, Sheffield, United Kingdom., Kowall NW; Department of Neurology, Veterans Affairs Boston Healthcare System, Boston, Massachusetts., Laaksovirta H; Department of Neurology, University of Helsinki, Helsinki, Finland., Landeck N; Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland., Landi F; Department of Geriatrics, Neurosciences and Orthopedics, Center for Geriatric Medicine, Catholic University of Sacred Heart, Rome, Italy., Le Ber I; Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Université Pierre et Marie Curie, Paris, France.; INSERM U975, Paris, France., Lumbroso S; INM, INSERM, University of Montpellier, CHU Nîmes, Nîmes, France., MacGowan DJL; Neuromuscular Division and ALS Center, Beth Israel Medical Center, Albert Einstein College of Medicine, New York, New York., Maragakis NJ; Department of Neurology, Johns Hopkins University, Baltimore, Maryland., Mora G; ALS Center, ICS Maugeri, IRCCS, Milan, Italy., Mouzat K; INM, INSERM, University of Montpellier, CHU Nîmes, Nîmes, France., Murphy NA; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland., Myllykangas L; Department of Pathology, Haartman Institute/HUSLAB, University of Helsinki and Folkhalsan Research Center (LM), Helsinki, Finland., Nalls MA; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland.; Data Tecnica International, Glen Echo, Maryland., Orrell RW; Department of Clinical Neuroscience, Institute of Neurology, University College London, London, United Kingdom., Ostrow LW; Department of Neurology, Johns Hopkins University, Baltimore, Maryland., Pamphlett R; Discipline of Pathology, Brain and Mind Centre, University of Sydney, Camperdown, Australia., Pickering-Brown S; Faculty of Human and Medical Sciences, University of Manchester, Manchester, United Kingdom., Pioro EP; Department of Neurology, Cleveland Clinic, Cleveland, Ohio., Pletnikova O; Clinical and Neuropathology Core, Johns Hopkins University, Baltimore, Maryland., Pliner HA; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland., Pulst SM; Department of Neurology, University of Utah School of Medicine, Salt Lake City., Ravits JM; Department of Neuroscience, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease, University of California San Diego, La Jolla., Renton AE; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland.; Nash Family Department of Neuroscience, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York., Rivera A; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland., Robberecht W; Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease, University of Leuven, Leuven, Belgium., Rogaeva E; Tanz Centre for Research of Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada., Rollinson S; Faculty of Human and Medical Sciences, University of Manchester, Manchester, United Kingdom., Rothstein JD; Department of Neurology, Johns Hopkins University, Baltimore, Maryland., Scholz SW; Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland.; Department of Neurology, Johns Hopkins University, Baltimore, Maryland., Sendtner M; Department of Neurology, Institute for Clinical Neurobiology, University of Würzburg, Würzburg, Germany., Shaw PJ; Department of Neuroscience, University of Sheffield, Sheffield, United Kingdom., Sidle KC; Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, London, United Kingdom., Simmons Z; Department of Neurology, Penn State College of Medicine, Hershey, Pennsylvania., Singleton AB; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland., Smith N; Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland., Stone DJ; Department of Genetics and Pharmacogenomics, Merck Research Laboratories, Merck, West Point, Pennsylvania., Tienari PJ; Department of Neurology, University of Helsinki, Helsinki, Finland., Troncoso JC; Clinical and Neuropathology Core, Johns Hopkins University, Baltimore, Maryland., Valori M; Department of Neurology, University of Helsinki, Helsinki, Finland., Van Damme P; Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease, University of Leuven, Leuven, Belgium.; VIB, Center for Brain & Disease Research, Laboratory of Neurobiology, University of Leuven, Leuven, Belgium., Van Deerlin VM; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia., Van Den Bosch L; Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease, University of Leuven, Leuven, Belgium., Zinman L; Division of Neurology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester., Chiò A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Neuroscience Institute of Torino, University of Turin, Turin, Italy., Traynor BJ; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland.; Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, London, United Kingdom.; Department of Neurology, Johns Hopkins University, Baltimore, Maryland.; National Institute of Neurological Disorders and Stroke, Bethesda, Maryland., Angelocola SM; Neurology Unit, AV4 ASUR Marche, Fermo, Italy., Ausiello FP; Neuroscience Institute of Torino, University of Turin, Turin, Italy., Barberis M; Department of Medical Genetic, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Torino, Italy., Bartolomei I; Center for Diagnosis and Cure of Rare Diseases, Department of Neurology, IRCCS Institute of Neurological Sciences, Bologna, Italy., Battistini S; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy., Bersano E; 3rd Neurology Unit and Motor Neuron Diseases Centre, IRCCS Foundation 'Carlo Besta' Neurological Institute, Milan, Italy., Bisogni G; NeuroMuscular Omnicentre (NEMO), Serena Onlus, Foundation Pol. A. Gemelli, Roma, Italy., Borghero G; Neurologic Unit, Monserrato University Hospital, Cagliari University, Cagliari, Italy., Brunetti M; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Cabona C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal-Child Sciences, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Calvo A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Division of Neurology, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, Torino, Italy., Canale F; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli,' Caserta, Italy., Canosa A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Division of Neurology, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, Torino, Italy., Cantisani TA; Struttura complessa di Neurofisiopatologia, Azienda Ospedaliera di Perugia, Perugia, Italy., Capasso M; Unit of Neurology, Ospedale Clinicizzato SS Annunziata, Chieti, Italy., Caponnetto C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal-Child Sciences, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Cardinali P; Neurology Unit, AV4 ASUR Marche, Fermo, Italy., Carrera P; Unit of Genomics for the Diagnosis of Human Pathologies, IRCCS San Raffaele Scientific Institute, Milan, Italy., Casale F; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Chiò A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Division of Neurology, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, Torino, Italy., Colletti T; ALS Clinical Research Center, BiND, University of Palermo, Palermo, Italy., Conforti FL; Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, Rende, Italy., Conte A; NeuroMuscular Omnicentre (NEMO), Serena Onlus, Foundation Pol. A. Gemelli, Roma, Italy., Conti E; Neurology Unit, 'San Gerardo' Hospital, Monza, Italy.; School of Medicine and Surgery and Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Milan, Italy., Corbo M; Department of Neurorehabilitation Sciences, Casa Cura Policlinico, Milan, Italy., Cuccu S; Neurologic Unit, Monserrato University Hospital, Cagliari University, Cagliari, Italy., Dalla Bella E; 3rd Neurology Unit and Motor Neuron Diseases Centre, IRCCS Foundation 'Carlo Besta' Neurological Institute, Milan, Italy., D'Errico E; Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari 'Aldo Moro,' Policlinic, Bari, Italy., DeMarco G; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Dubbioso R; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Napoli, Italy., Ferrarese C; Neurology Unit, 'San Gerardo' Hospital, Monza, Italy.; School of Medicine and Surgery and Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Milan, Italy., Ferraro PM; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal-Child Sciences, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Filippi M; Neurology Unit and Rehabilitation Unit, IRCCS 'San Raffaele Scientific Institute,' Milan, Italy.; Neuroimaging Research Unit, Division of Neuroscience, IRCCS 'San Raffaele Scientific Institute,' Milan, Italy.; Neurophysiology Service, IRCCS 'San Raffaele Scientific Institute,' Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy., Fini N; Department of Neurosciences, Ospedale Civile S. Agostino Estense, Azienda Ospedaliero Universitaria di Modena, Modena, Italy., Floris G; Neurologic Unit, Monserrato University Hospital, Cagliari University, Cagliari, Italy., Fuda G; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Gallone S; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Gianferrari G; Department of Neurosciences, Ospedale Civile S. Agostino Estense, Azienda Ospedaliero Universitaria di Modena, Modena, Italy., Giannini F; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy., Grassano M; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Greco L; NeuroMuscular Omnicentre (NEMO) Clinical Center Milano, Fondazione Serena Onlus, Milan, Italy., Iazzolino B; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Introna A; Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari 'Aldo Moro,' Policlinic, Bari, Italy., La Bella V; ALS Clinical Research Center, BiND, University of Palermo, Palermo, Italy., Lattante S; Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore Facoltà di Medicina e Chirurgia, Roma, Italy., Lauria G; 3rd Neurology Unit and Motor Neuron Diseases Centre, IRCCS Foundation 'Carlo Besta' Neurological Institute, Milan, Italy.; Department of Biomedical and Clinical Sciences Luigi Sacco, University of Milan, Milan, Italy., Liguori R; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Logroscino G; Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari Aldo Moro, Bari, Italy.; Center for Neurodegenerative Diseases and the Aging Brain, Department of Clinical Research in Neurology, Pia Fondazione Cardinale G. Panico, Tricase, Italy., Logullo FO; Neurology Unit, AV3, ASUR Marche, Macerata, Italy., Lunetta C; NeuroMuscular Omnicentre (NEMO) Clinical Center Milano, Fondazione Serena Onlus, Milan, Italy., Mandich P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal-Child Sciences, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.; Medical Genetics Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Mandrioli J; Department of Neurosciences, Ospedale Civile S. Agostino Estense, Azienda Ospedaliero Universitaria di Modena, Modena, Italy., Manera U; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Manganelli F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Napoli, Italy., Marangi G; Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore Facoltà di Medicina e Chirurgia, Roma, Italy., Marinou K; Department of Neurorehabilitation, Istituti Clinici Scientifici Maugeri IRCCS, Institute of Milan, Milan, Italy., Marrosu MG; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy., Martinelli I; Department of Neurosciences, Ospedale Civile S. Agostino Estense, Azienda Ospedaliero Universitaria di Modena, Modena, Italy., Messina S; NeuroMuscular Omnicentre (NEMO) Sud, Fondazione Aurora, OUC Neurology and Neuromuscular Disorders, University of Messina, Messina, Italy., Moglia C; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.; Division of Neurology, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, Torino, Italy., Mora G; Department of Neurorehabilitation, Istituti Clinici Scientifici Maugeri IRCCS, Institute of Milan, Milan, Italy., Mosca L; Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy., Murru MR; Neurologic Unit, Monserrato University Hospital, Cagliari University, Cagliari, Italy., Origone P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal-Child Sciences, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Passaniti C; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli,' Napoli, Italy., Petrelli C; Neurology Unit, AV3, ASUR Marche, Macerata, Italy., Petrucci A; Neurology Department, San Camillo Hospital, Roma, Italy., Pozzi S; NeuroMuscular Omnicentre (NEMO) Clinical Center Milano, Fondazione Serena Onlus, Milan, Italy., Pugliatti M; Department of Biomedical and Surgical Sciences, Section of Neurological, Psychiatric and Psychological Sciences, University of Ferrara, Ferrara, Italy., Quattrini A; Department of Neurology, IRCCS 'San Raffaele Scientific Institute,' Milan, Italy., Ricci C; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy., Riolo G; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy., Riva N; Department of Neurology, IRCCS 'San Raffaele Scientific Institute,' Milan, Italy., Russo M; OUC Neurology and Neuromuscular Disorders, University of Messina, Messina, Italy., Sabatelli M; NeuroMuscular Omnicentre (NEMO)-Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del Sacro Cuore, Roma, Italy., Salamone P; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Salivetto M; NeuroMuscular Omnicentre (NEMO) Clinical Center Milano, Fondazione Serena Onlus, Milan, Italy., Salvi F; Center for Diagnosis and Cure of Rare Diseases, Department of Neurology, IRCCS Institute of Neurological Sciences, Bologna, Italy., Santarelli M; Department of Medicine, Azienda Complesso Ospedaliero, San Filippo Neri, Roma, Italy., Sbaiz L; Department of Medical Genetic, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Torino, Italy., Sideri R; Department of Neurorehabilitation, Istituti Clinici Scientifici Maugeri IRCCS, Institute of Milan, Milan, Italy., Simone I; Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari 'Aldo Moro,' Policlinic, Bari, Italy., Simonini C; Department of Neurosciences, Ospedale Civile S. Agostino Estense, Azienda Ospedaliero Universitaria di Modena, Modena, Italy., Spataro R; ALS Clinical Research Center, BiND, University of Palermo, Palermo, Italy., Tanel R; Operative Unit of Neurology, S. Chiara Hospital, Trento, Italy., Tedeschi G; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli,' Napoli, Italy., Ticca A; Department of Neurology, Azienda Ospedaliera San Francesco, Nuoro, Italy., Torriello A; ALS Center, Operative Unit of Neurology, AOU 'San Giovanni di Dio e Ruggi d'Aragona,' Salerno, Italy., Tranquilli S; Neurologic Unit, Monserrato University Hospital, Cagliari University, Cagliari, Italy., Tremolizzo L; Neurology Unit, 'San Gerardo' Hospital, Monza, Italy.; School of Medicine and Surgery and Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Milan, Italy., Trojsi F; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli,' Napoli, Italy., Vasta R; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Vacchiano V; Center for Diagnosis and Cure of Rare Diseases, Department of Neurology, IRCCS Institute of Neurological Sciences, Bologna, Italy., Vita G; OUC Neurology and Neuromuscular Disorders, University of Messina, Messina, Italy., Volanti P; Neurorehabilitation Unit-ALS Center, Istituti Clinici Scientifici (ICS) Maugeri, Mistretta, Italy., Zollino M; Sezione di Medicina Genomica, Dipartimento Scienze della Vita e Sanità Pubblica, Facoltà di Medicina e Chirurgia, Università Cattolica Sacro Cuore, Roma, Italy.; Unità di Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy., Zucchi E; Department of Neurosciences, Ospedale Civile S. Agostino Estense, Azienda Ospedaliero Universitaria di Modena, Modena, Italy.
Publikováno v:
JAMA neurology [JAMA Neurol] 2021 Oct 01; Vol. 78 (10), pp. 1236-1248.
Autor:
Nicolas A; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., Kenna KP; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., Renton AE; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Ticozzi N; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center - Università degli Studi di Milano, Milan 20122, Italy., Faghri F; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA; Department of Computer Science, University of Illinois at Urbana-Champaign, Urbana, IL, USA., Chia R; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., Dominov JA; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., Kenna BJ; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., Nalls MA; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA; Data Tecnica International, Glen Echo, MD, USA., Keagle P; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., Rivera AM; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., van Rheenen W; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Murphy NA; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., van Vugt JJFA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Geiger JT; Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Van der Spek RA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Pliner HA; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., Shankaracharya; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., Smith BN; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., Marangi G; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA; Institute of Genomic Medicine, Catholic University, Roma, Italy., Topp SD; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., Abramzon Y; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA; Sobell Department of Motor Neuroscience and Movement Disorders, University College London, Institute of Neurology, London, UK., Gkazi AS; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., Eicher JD; Genetics and Pharmacogenomics, MRL, Merck & Co., Inc., Boston, MA 02115, USA., Kenna A; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., Mora G; ALS Center, Salvatore Maugeri Foundation, IRCCS, Mistretta, Messina, Italy., Calvo A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy., Mazzini L; 'Maggiore della Carità' University Hospital, Novara, Italy., Riva N; Department of Neurology, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy., Mandrioli J; Department of Neuroscience, St. Agostino Estense Hospital, Azienda Ospedaliero Universitaria di Modena, Modena, Italy., Caponnetto C; Department of Neurosciences, Ophthalmology, Genetics, Rehabilitation, Maternal and Child Health, Ospedale Policlinico San Martino, Genoa, Italy., Battistini S; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy., Volanti P; ALS Center, Salvatore Maugeri Foundation, IRCCS, Mistretta, Messina, Italy., La Bella V; ALS Clinical Research Center, University of Palermo, Palermo, Italy., Conforti FL; Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy., Borghero G; Department of Neurology, Azienda Universitario Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy., Messina S; Department of Clinical and Experimental Medicine, University of Messina and Nemo Sud Clinical Center for Neuromuscular Diseases, Aurora Foundation, Messina, Italy., Simone IL; Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Bari, Italy., Trojsi F; Department of Medical, Surgical, Neurological, Metabolic and Aging Sciences, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Salvi F; 'Il Bene' Center for Immunological and Rare Neurological Diseases at Bellaria Hospital, IRCCS, Istituto delle Scienze Neurologiche, Bologna, Italy., Logullo FO; Neurological Clinic, Marche Polytechnic University, Ancona, Italy., D'Alfonso S; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy., Corrado L; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy., Capasso M; Department of Neurology, University of Chieti, Chieti, Italy., Ferrucci L; Longitudinal Studies Section, Clinical Research Branch, National Institute on Aging, NIH, Baltimore, MD 21224, USA., Moreno CAM; Department of Neurology, Columbia University, New York, NY 10032, USA., Kamalakaran S; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA., Goldstein DB; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA., Gitler AD; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Harris T; Bioverativ, 225 2nd Avenue, Waltham, MA 02145, USA., Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Phatnani H; Center for Genomics of Neurodegenerative Diseases (CGND), New York Genome Center, New York, NY, USA., Musunuri RL; Computational Biology, New York Genome Center, New York, NY, USA., Evani US; Computational Biology, New York Genome Center, New York, NY, USA., Abhyankar A; Computational Biology, New York Genome Center, New York, NY, USA., Zody MC; Computational Biology, New York Genome Center, New York, NY, USA., Kaye J; Gladstone Institute of Neurological Disease, San Francisco, CA, USA., Finkbeiner S; Gladstone Institute of Neurological Disease, San Francisco, CA, USA; Departments of Neurology and Physiology, University of California San Francisco, San Francisco, CA, USA., Wyman SK; Gladstone Institute of Neurological Disease, San Francisco, CA, USA., LeNail A; Department of Biological Engineering, Massachusetts Institute of Technology, 77 Massachusetts Avenue, Cambridge, MA 02139, USA., Lima L; Gladstone Institute of Neurological Disease, San Francisco, CA, USA., Fraenkel E; Department of Biological Engineering, Massachusetts Institute of Technology, 77 Massachusetts Avenue, Cambridge, MA 02139, USA; Broad Institute, 415 Main Street, Cambridge, MA 02142, USA., Svendsen CN; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Thompson LM; Department of Neurobiology and Behavior, Institute of Memory Impairment and Neurological Disorders, University of California, Irvine, Irvine, CA 92697, USA; Department of Psychiatry and Human Behavior, Institute of Memory Impairment and Neurological Disorders, University of California, Irvine, Irvine, CA 92697, USA., Van Eyk JE; The Heart Institute and Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Berry JD; Harvard Medical School, Department of Neurology, Massachusetts General Hospital (MGH), Boston, MA, USA; Neurological Clinical Research Institute (NCRI), Massachusetts General Hospital, Boston, MA, USA., Miller TM; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA., Kolb SJ; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA., Cudkowicz M; Harvard Medical School, Department of Neurology, Massachusetts General Hospital (MGH), Boston, MA, USA; Neurological Clinical Research Institute (NCRI), Massachusetts General Hospital, Boston, MA, USA., Baxi E; Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA., Benatar M; Department of Neurology, University of Miami, Miami, FL 33136, USA., Taylor JP; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Rampersaud E; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Wu G; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA., Wuu J; Department of Neurology, University of Miami, Miami, FL 33136, USA., Lauria G; 3rd Neurology Unit, Motor Neuron Diseases Center, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' and Department of Biomedical and Clinical Sciences 'Luigi Sacco,' University of Milan, Milan, Italy., Verde F; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy., Fogh I; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., Tiloca C; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy., Comi GP; Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Sorarù G; Department of Neurosciences, University of Padova, Padova, Italy., Cereda C; Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy., Corcia P; ALS Center, CHU Bretonneau, Tours University, Tours, France., Laaksovirta H; Department of Neurology, Helsinki University Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki FIN-02900, Finland., Myllykangas L; Department of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Jansson L; Department of Neurology, Helsinki University Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki FIN-02900, Finland., Valori M; Department of Neurology, Helsinki University Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki FIN-02900, Finland., Ealing J; Greater Manchester Neurosciences Centre, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK., Hamdalla H; Greater Manchester Neurosciences Centre, Salford Royal NHS Foundation Trust, Salford M6 8HD, UK., Rollinson S; Faculty of Human and Medical Sciences, University of Manchester, Manchester M13 9PT, UK., Pickering-Brown S; Faculty of Human and Medical Sciences, University of Manchester, Manchester M13 9PT, UK., Orrell RW; Department of Clinical Neuroscience, Institute of Neurology, University College London, London NW3 2PG, UK., Sidle KC; Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square House, London WC1N 3BG, UK., Malaspina A; Centre for Neuroscience and Trauma, Blizard Institute, Queen Mary University of London, NorthEast London and Essex Regional Motor Neuron Disease Care Centre, London E1 2AT, UK., Hardy J; Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square House, London WC1N 3BG, UK., Singleton AB; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., Johnson JO; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., Arepalli S; Genomics Technology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., Sapp PC; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., McKenna-Yasek D; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., Polak M; Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA., Asress S; Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA., Al-Sarraj S; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., King A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., Troakes C; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., Vance C; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., de Belleroche J; Division of Brain Sciences, Department of Medicine, Imperial College London, London W120NN, UK., Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Ten Asbroek ALMA; Department of Neurogenetics and Neurology, Academic Medical Centre, Amsterdam, the Netherlands., Muñoz-Blanco JL; ALS-Neuromuscular Unit, Hospital General Universitario Gregorio Marañón, IISGM, Madrid, Spain., Hernandez DG; Genomics Technology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., Ding J; Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., Gibbs JR; Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA., Scholz SW; Neurodegenerative Diseases Research Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA; Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA., Floeter MK; Motor Neuron Disorders Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Campbell RH; Department of Computer Science, University of Illinois at Urbana-Champaign, Urbana, IL, USA., Landi F; Center for Geriatric Medicine, Department of Geriatrics, Neurosciences and Orthopedics, Catholic University of Sacred Heart, Rome 00168, Italy., Bowser R; Division of Neurology, Barrow Neurological Institute, Phoenix, AZ, USA., Pulst SM; Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Ravits JM; Department of Neuroscience, University of California, San Diego, La Jolla, CA, USA., MacGowan DJL; Mount Sinai Beth Israel Hospital, Mount Sinai School of Medicine, New York, NY, USA., Kirby J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Pioro EP; Department of Neurology, Neuromuscular Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA., Pamphlett R; Discipline of Pathology, Brain and Mind Centre, The University of Sydney, 94 Mallett Street, Camperdown, NSW 2050, Australia., Broach J; Department of Biochemistry, Penn State College of Medicine, Hershey, PA, USA., Gerhard G; Department of Pathology, Penn State College of Medicine, Hershey, PA, USA., Dunckley TL; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA., Brady CB; Research and Development Service, Veterans Affairs Boston Healthcare System, Boston, MA, USA; Department of Neurology, Program in Behavioral Neuroscience, Boston University School of Medicine, Boston, MA, USA., Kowall NW; Neurology Service, VA Boston Healthcare System and Boston University Alzheimer's Disease Center, Boston, MA 02130, USA., Troncoso JC; Departments of Pathology and Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Le Ber I; Sorbonne Universités, UPMC Univ Paris 06, Inserm, CNRS, Institut du Cerveau et la Moelle (ICM), Assistance Publique Hôpitaux de Paris (AP-HP) - Hôpital Pitié-Salpêtrière, Paris, France., Mouzat K; INM, University Montpellier, Montpellier, France; Department of Biochemistry, CHU Nîmes, Nîmes, France., Lumbroso S; INM, University Montpellier, Montpellier, France; Department of Biochemistry, CHU Nîmes, Nîmes, France., Heiman-Patterson TD; Department of Neurology, Drexel University College of Medicine, Philadelphia, PA, USA; Department of Neurology, Lewis Katz School of Medicine, Temple University, Philadelphia, PA, USA., Kamel F; Epidemiology Branch, National Institute of Environmental Health Sciences, Durham, NC 27709, USA., Van Den Bosch L; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium; VIB, Center for Brain and Disease Research, Laboratory of Neurobiology, Leuven, Belgium., Baloh RH; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Meitinger T; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Shatunov A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., Van Eijk KR; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., de Carvalho M; Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal; Department of Neurosciences, Hospital de Santa Maria-CHLN, Lisbon, Portugal., Kooyman M; SURFsara, Amsterdam, the Netherlands., Middelkoop B; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Moisse M; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium; VIB, Center for Brain and Disease Research, Laboratory of Neurobiology, Leuven, Belgium., McLaughlin RL; Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Republic of Ireland., Van Es MA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Weber M; Neuromuscular Diseases Center/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland., Boylan KB; Department of Neurology, Mayo Clinic Florida, Jacksonville, FL 32224, USA., Van Blitterswijk M; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Rademakers R; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Morrison KE; Faculty of Medicine, University of Southampton, Southampton, UK., Basak AN; Suna and Inan Kırac Foundation, Neurodegeneration Research Laboratory, Bogazici University, Istanbul, Turkey., Mora JS; ALS Unit/Neurology, Hospital San Rafael, Madrid, Spain., Drory VE; Department of Neurology, Tel-Aviv Sourasky Medical Centre, Tel-Aviv, Israel., Shaw PJ; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Turner MR; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Talbot K; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Hardiman O; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Republic of Ireland., Williams KL; Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia., Fifita JA; Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia., Nicholson GA; Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia; ANZAC Research Institute, Concord Hospital, University of Sydney, Sydney, NSW 2139, Australia., Blair IP; Centre for MND Research, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2109, Australia., Rouleau GA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada., Esteban-Pérez J; Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid, Spain., García-Redondo A; Unidad de ELA, Instituto de Investigación Hospital 12 de Octubre de Madrid, SERMAS, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid, Spain., Al-Chalabi A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., Rogaeva E; Tanz Centre for Research of Neurodegenerative Diseases, Division of Neurology, Department of Medicine, University of Toronto, Toronto, ON M5S 3H2, Canada., Zinman L; Division of Neurology, Department of Internal Medicine, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON M4N 3M5, Canada., Ostrow LW; Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA., Maragakis NJ; Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA., Rothstein JD; Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA., Simmons Z; Department of Neurology, Penn State Hershey Medical Center, Hershey, PA, USA., Cooper-Knock J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Brice A; Sorbonne Universités, UPMC Univ Paris 06, Inserm, CNRS, Institut du Cerveau et la Moelle (ICM), Assistance Publique Hôpitaux de Paris (AP-HP) - Hôpital Pitié-Salpêtrière, Paris, France., Goutman SA; Department of Neurology, University of Michigan, Ann Arbor, MI, USA., Feldman EL; Department of Neurology, University of Michigan, Ann Arbor, MI, USA., Gibson SB; Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Taroni F; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan 20133, Italy., Ratti A; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center - Università degli Studi di Milano, Milan 20122, Italy., Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan 20133, Italy., Van Damme P; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium; VIB, Center for Brain and Disease Research, Laboratory of Neurobiology, Leuven, Belgium; University Hospitals Leuven, Department of Neurology, Leuven, Belgium., Robberecht W; KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), B-3000 Leuven, Belgium; VIB, Center for Brain and Disease Research, Laboratory of Neurobiology, Leuven, Belgium; University Hospitals Leuven, Department of Neurology, Leuven, Belgium., Fratta P; Sobell Department of Motor Neuroscience and Movement Disorders, University College London, Institute of Neurology, London, UK., Sabatelli M; Centro Clinico NeMO, Institute of Neurology, Catholic University, Largo F. Vito 1, 00168 Rome, Italy., Lunetta C; NEuroMuscular Omnicenter (NEMO), Serena Onlus Foundation, Milan, Italy., Ludolph AC; Neurology Department, Ulm University, Albert-Einstein-Allee 11, 89081 Ulm, Germany., Andersen PM; Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå SE-90185, Sweden., Weishaupt JH; Neurology Department, Ulm University, Albert-Einstein-Allee 11, 89081 Ulm, Germany., Camu W; ALS Center, CHU Gui de Chauliac, University of Montpellier, Montpellier, France., Trojanowski JQ; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Van Deerlin VM; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Brown RH Jr; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA., van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Veldink JH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Harms MB; Department of Neurology, Columbia University, New York, NY 10032, USA., Glass JD; Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA., Stone DJ; Genetics and Pharmacogenomics, MRL, Merck & Co., Inc., West Point, PA 19486, USA., Tienari P; Department of Neurology, Helsinki University Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki FIN-02900, Finland., Silani V; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center - Università degli Studi di Milano, Milan 20122, Italy., Chiò A; 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Neuroscience Institute of Torino, Turin 10124, Italy., Shaw CE; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, London SE5 9RS, UK., Traynor BJ; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Research Center, Bethesda, MD 20892, USA; Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA. Electronic address: bryan.traynor@nih.gov., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address: john.landers@umassmed.edu.
Publikováno v:
Neuron [Neuron] 2018 Mar 21; Vol. 97 (6), pp. 1267-1288.
Autor:
Lai SL; Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA., Abramzon Y, Schymick JC, Stephan DA, Dunckley T, Dillman A, Cookson M, Calvo A, Battistini S, Giannini F, Caponnetto C, Mancardi GL, Spataro R, Monsurro MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Lombardo F, Mora G, Restagno G, Chiò A, Traynor BJ
Publikováno v:
Neurobiology of aging [Neurobiol Aging] 2011 Mar; Vol. 32 (3), pp. 550.e1-4. Date of Electronic Publication: 2010 Feb 06.
Autor:
Dunckley T; Translational Genomics Research Inst., Phoenix, AZ 85004, USA., Huentelman MJ, Craig DW, Pearson JV, Szelinger S, Joshipura K, Halperin RF, Stamper C, Jensen KR, Letizia D, Hesterlee SE, Pestronk A, Levine T, Bertorini T, Graves MC, Mozaffar T, Jackson CE, Bosch P, McVey A, Dick A, Barohn R, Lomen-Hoerth C, Rosenfeld J, O'connor DT, Zhang K, Crook R, Ryberg H, Hutton M, Katz J, Simpson EP, Mitsumoto H, Bowser R, Miller RG, Appel SH, Stephan DA
Publikováno v:
The New England journal of medicine [N Engl J Med] 2007 Aug 23; Vol. 357 (8), pp. 775-88. Date of Electronic Publication: 2007 Aug 01.
Autor:
Johnson, JO, Chia, R, Miller, DE, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, AE, Topp, SD, Gibbs, JR, Cookson, MR, Sabir, MS, Dalgard, CL, Troakes, C, Jones, AR, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, IP, Dobson-Stone, C, Kwok, JB, Bonkowski, ES, Palvadeau, R, Tienari, PJ, Morrison, KE, Shaw, PJ, Al-Chalabi, A, Brown, RH, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, IJ, Perlman, SJ, Glass, I, Scott, AI, Shaw, CE, Basak, AN, Landers, JE, Chiò, A, Crawford, TO, Smith, BN, Traynor, BJ, Fallini, C, Gkazi, AS, Scotter, EL, Kenna, KP, Keagle, P, Tiloca, C, Vance, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, ten Asbroek, ALMA, McKenna-Yasek, D, McLaughlin, RL, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D’Alfonso, S, Mazzini, L, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, van Rheenen, W, Rademakers, R, van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, KL, Nicholson, GA, Leblond-Manry, C, Rouleau, GA, Hardiman, O, Veldink, JH, van den Berg, LH, Pall, H, Turner, MR, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, JD, Ratti, A, Adeleye, A, Soltis, AR, Alba, C, Viollet, C, Bacikova, D, Hupalo, DN, Sukumar, G, Pollard, HB, Wilkerson, MD, Martinez, EM, Ahmed, S, Arepalli, S, Baloh, RH, Bowser, R, Brady, CB, Brice, A, Broach, J, Campbell, RH, Camu, W, Cooper-Knock, J, Ding, J, Drepper, C, Drory, VE, Dunckley, TL, Eicher, JD, England, BK, Faghri, F, Feldman, E, Floeter, MK, Fratta, P, Geiger, JT, Gerhard, G, Gibson, SB, Hardy, J, Harms, MB, Heiman-Patterson, TD, Hernandez, DG, Jansson, L, Kirby, J, Kowall, NW, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, MacGowan, DJL, Maragakis, NJ, Mouzat, K, Murphy, NA, Myllykangas, L, Nalls, MA, Orrell, RW, Ostrow, LW, Pamphlett, R, Pickering-Brown, S, Pioro, EP, Pletnikova, O, Pliner, HA, Pulst, SM, Ravits, JM, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, JD, Scholz, SW, Sendtner, M, Sidle, KC, Simmons, Z, Singleton, AB, Smith, N, Stone, DJ, Troncoso, JC, Valori, M, Van Damme, P, Van Deerlin, VM, Van Den Bosch, L, Zinman, L, Angelocola, SM, Ausiello, FP, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Canale, F, Canosa, A, Cantisani, TA, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Colletti, T, Conforti, FL, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D’Errico, E, DeMarco, G, Dubbioso, R, Ferrarese, C, Ferraro, PM, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Liguori, R, Logroscino, G, Logullo, FO, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, MG, Martinelli, I, Messina, S, Moglia, C, Mosca, L, Murru, MR, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M, Zucchi, E
Publikováno v:
ITALSGEN Consortium, International ALS Genomics Consortium, American Genome Center & FALS Sequencing Consortium 2021, ' Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis ', JAMA Neurology, vol. 78, no. 10, pp. 1236-1248 . https://doi.org/10.1001/jamaneurol.2021.2598
JAMA Neurology, 78(10), 1236-1248. AMER MEDICAL ASSOC
JAMA Neurology
Johnson, J O, Chia, R, Miller, D E, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, A E, Topp, S D, Gibbs, J R, Cookson, M R, Sabir, M S, Dalgard, C L, Troakes, C, Jones, A R, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, I P, Dobson-Stone, C, Kwok, J B, Bonkowski, E S, Palvadeau, R, Tienari, P J, Morrison, K E, Shaw, P J, Al-Chalabi, A, Brown, R H, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, I J, Perlman, S J, Glass, I, Scott, A I, Shaw, C E, Basak, A N, Landers, J E, Chiò, A, Crawford, T O, Smith, B N, Traynor, B J, Smith, B N, Ticozzi, N, Fallini, C, Gkazi, A S, Topp, S D, Scotter, E L, Kenna, K P, Keagle, P, Tiloca, C, Vance, C, Troakes, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, Ten Asbroek, A L M A, McKenna-Yasek, D, McLaughlin, R L, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D'Alfonso, S, Mazzini, L, Comi, G P, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, Van Rheenen, W, Rademakers, R, Van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, K L, Nicholson, G A, Blair, I P, Leblond-Manry, C, Rouleau, G A, Hardiman, O, Morrison, K E, Veldink, J H, Van Den Berg, L H, Al-Chalabi, A, Pall, H, Shaw, P J, Turner, M R, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, J D, Gellera, C, Ratti, A, Brown, R H, Silani, V, Shaw, C E, Landers, J E, Dalgard, C L, Adeleye, A, Soltis, A R, Alba, C, Viollet, C, Bacikova, D, Hupalo, D N, Sukumar, G, Pollard, H B, Wilkerson, M D, Martinez, E M G, Abramzon, Y, Ahmed, S, Arepalli, S, Baloh, R H, Bowser, R, Brady, C B, Brice, A, Broach, J, Campbell, R H, Camu, W, Chia, R, Cooper-Knock, J, Ding, J, Drepper, C, Drory, V E, Dunckley, T L, Eicher, J D, England, B K, Faghri, F, Feldman, E, Floeter, M K, Fratta, P, Geiger, J T, Gerhard, G, Gibbs, J R, Gibson, S B, Glass, J D, Hardy, J, Harms, M B, Heiman-Patterson, T D, Hernandez, D G, Jansson, L, Kirby, J, Kowall, N W, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, Macgowan, D J L, Maragakis, N J, Mora, G, Mouzat, K, Murphy, N A, Myllykangas, L, Nalls, M A, Orrell, R W, Ostrow, L W, Pamphlett, R, Pickering-Brown, S, Pioro, E P, Pletnikova, O, Pliner, H A, Pulst, S M, Ravits, J M, Renton, A E, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, J D, Scholz, S W, Sendtner, M, Shaw, P J, Sidle, K C, Simmons, Z, Singleton, A B, Smith, N, Stone, D J, Tienari, P J, Troncoso, J C, Valori, M, Van Damme, P, Van Deerlin, V M, Van Den Bosch, L, Zinman, L, Landers, J E, Chiò, A, Traynor, B J, Angelocola, S M, Ausiello, F P, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Calvo, A, Canale, F, Canosa, A, Cantisani, T A, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Chiò, A, Colletti, T, Conforti, F L, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D'Errico, E, Demarco, G, Dubbioso, R, Ferrarese, C, Ferraro, P M, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Lauria, G, Liguori, R, Logroscino, G, Logullo, F O, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, M G, Martinelli, I, Messina, S, Moglia, C, Mora, G, Mosca, L, Murru, M R, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M & Zucchi, E 2021, ' Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis ', JAMA Neurology, vol. 78, no. 10, pp. 1236-1248 . https://doi.org/10.1001/jamaneurol.2021.2598
JAMA Neurology, 78(10), 1236-1248. American Medical Association
JAMA Neurology, 78(10), 1236-1248. AMER MEDICAL ASSOC
JAMA Neurology
Johnson, J O, Chia, R, Miller, D E, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, A E, Topp, S D, Gibbs, J R, Cookson, M R, Sabir, M S, Dalgard, C L, Troakes, C, Jones, A R, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, I P, Dobson-Stone, C, Kwok, J B, Bonkowski, E S, Palvadeau, R, Tienari, P J, Morrison, K E, Shaw, P J, Al-Chalabi, A, Brown, R H, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, I J, Perlman, S J, Glass, I, Scott, A I, Shaw, C E, Basak, A N, Landers, J E, Chiò, A, Crawford, T O, Smith, B N, Traynor, B J, Smith, B N, Ticozzi, N, Fallini, C, Gkazi, A S, Topp, S D, Scotter, E L, Kenna, K P, Keagle, P, Tiloca, C, Vance, C, Troakes, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, Ten Asbroek, A L M A, McKenna-Yasek, D, McLaughlin, R L, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D'Alfonso, S, Mazzini, L, Comi, G P, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, Van Rheenen, W, Rademakers, R, Van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, K L, Nicholson, G A, Blair, I P, Leblond-Manry, C, Rouleau, G A, Hardiman, O, Morrison, K E, Veldink, J H, Van Den Berg, L H, Al-Chalabi, A, Pall, H, Shaw, P J, Turner, M R, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, J D, Gellera, C, Ratti, A, Brown, R H, Silani, V, Shaw, C E, Landers, J E, Dalgard, C L, Adeleye, A, Soltis, A R, Alba, C, Viollet, C, Bacikova, D, Hupalo, D N, Sukumar, G, Pollard, H B, Wilkerson, M D, Martinez, E M G, Abramzon, Y, Ahmed, S, Arepalli, S, Baloh, R H, Bowser, R, Brady, C B, Brice, A, Broach, J, Campbell, R H, Camu, W, Chia, R, Cooper-Knock, J, Ding, J, Drepper, C, Drory, V E, Dunckley, T L, Eicher, J D, England, B K, Faghri, F, Feldman, E, Floeter, M K, Fratta, P, Geiger, J T, Gerhard, G, Gibbs, J R, Gibson, S B, Glass, J D, Hardy, J, Harms, M B, Heiman-Patterson, T D, Hernandez, D G, Jansson, L, Kirby, J, Kowall, N W, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, Macgowan, D J L, Maragakis, N J, Mora, G, Mouzat, K, Murphy, N A, Myllykangas, L, Nalls, M A, Orrell, R W, Ostrow, L W, Pamphlett, R, Pickering-Brown, S, Pioro, E P, Pletnikova, O, Pliner, H A, Pulst, S M, Ravits, J M, Renton, A E, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, J D, Scholz, S W, Sendtner, M, Shaw, P J, Sidle, K C, Simmons, Z, Singleton, A B, Smith, N, Stone, D J, Tienari, P J, Troncoso, J C, Valori, M, Van Damme, P, Van Deerlin, V M, Van Den Bosch, L, Zinman, L, Landers, J E, Chiò, A, Traynor, B J, Angelocola, S M, Ausiello, F P, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Calvo, A, Canale, F, Canosa, A, Cantisani, T A, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Chiò, A, Colletti, T, Conforti, F L, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D'Errico, E, Demarco, G, Dubbioso, R, Ferrarese, C, Ferraro, P M, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Lauria, G, Liguori, R, Logroscino, G, Logullo, F O, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, M G, Martinelli, I, Messina, S, Moglia, C, Mora, G, Mosca, L, Murru, M R, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M & Zucchi, E 2021, ' Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis ', JAMA Neurology, vol. 78, no. 10, pp. 1236-1248 . https://doi.org/10.1001/jamaneurol.2021.2598
JAMA Neurology, 78(10), 1236-1248. American Medical Association
Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10862114c06ef9a5b843bbe1b0efa405
https://hdl.handle.net/11585/852152
https://hdl.handle.net/11585/852152
Autor:
Bandres‐Ciga, S, Noyce, AJ, Hemani, G, Nicolas, A, Calvo, A, Mora, G, Arosio, A, Barberis, M, Bartolomei, I, Battistini, S, Benigni, M, Borghero, G, Brunetti, M, Cammarosano, S, Cannas, A, Canosa, A, Capasso, M, Caponnetto, C, Caredda, C, Carrera, P, Casale, F, Cavallaro, S, Chiò, A, Colletti, T, Conforti, FL, Conte, A, Corrado, L, Costantino, E, D'Alfonso, S, Fasano, A, Femiano, C, Ferrarese, C, Fini, N, Floris, G, Fuda, G, Giannini, F, Grassano, M, Ilardi, A, La Bella, V, Lattante, S, Logroscino, G, Logullo, FO, Loi, D, Lunetta, C, Mancardi, G, Mandich, P, Mandrioli, J, Manera, U, Marangi, G, Marinou, K, Marrali, G, Marrosu, MG, Mazzini, L, Melis, M, Messina, S, Moglia, C, Monsurro, MR, Mosca, L, Occhineri, P, Origone, P, Pani, C, Penco, S, Petrucci, A, Piccirillo, G, Pirisi, A, Pisano, F, Pugliatti, M, Restagno, G, Ricci, C, Rita Murru, M, Riva, N, Sabatelli, M, Salvi, F, Santarelli, M, Sideri, R, Simone, I, Spataro, R, Tanel, R, Tedeschi, G, Tranquilli, S, Tremolizzo, L, Trojsi, F, Volanti, P, Zollino, M, Abramzon, Y, Arepalli, S, Baloh, RH, Bowser, R, Brady, CB, Brice, A, Broach, J, Campbell, RH, Camu, W, Chia, R, Cooper‐Knock, J, Cusi, D, Ding, J, Drepper, C, Drory, VE, Dunckley, TL, Eicher, JD, Faghri, F, Feldman, E, Kay Floeter, M, Fratta, P, Geiger, JT, Gerhard, G, Gibbs, JR, Gibson, SB, Glass, JD, Hardy, J, Harms, MB, Heiman‐Patterson, TD, Hernandez, DG, Jansson, L, Kamel, F, Kirby, J, Kowall, NW, Laaksovirta, H, Landi, F, Le Ber, I, Lumbroso, S, MacGowan, DJL, Maragakis, NJ, Mouzat, K, Murphy, NA, Myllykangas, L, Nalls, MA, Orrell, RW, Ostrow, LW, Pamphlett, R, Pickering‐Brown, S, Pioro, E, Pliner, HA, Pulst, SM, Ravits, JM, Renton, AE, Rivera, A, Robbrecht, W, Rogaeva, E, Rollinson, S, Rothstein, JD, Salvi, E, Scholz, SW, Sendtner, M, Shaw, PJ, Sidle, KC, Simmons, Z, Singleton, AB, Stone, DC, Sulkava, R, Tienari, PJ, Traynor, BJ, Trojanowski, JQ, Troncoso, JC, Van Damme, P, Van Deerlin, VM, Van Den Bosch, L, Zinman, L, Stone, DJ
Publikováno v:
Annals of neurology 85 (2019): 470–481. doi:10.1002/ana.25431
info:cnr-pdr/source/autori:Bandres-Ciga S; Noyce AJ; Hemani G; Nicolas A; Calvo A; Mora G; Arosio A; Barberis M; Bartolomei I; Battistini S; Benigni M; Borghero G; Brunetti M; Cammarosano S; Cannas A; Canosa A; Capasso M; Caponnetto C; Caredda C; Carrera P; Casale F; Cavallaro S; Chiò A; Colletti T; Conforti FL; Conte A; Corrado L; Costantino E; D'Alfonso S; Fasano A; Femiano C; Ferrarese C; Fini N; Floris G; Fuda G; Giannini F; Grassano M; Ilardi A; La Bella V; Lattante S; Logroscino G; Logullo FO; Loi D; Lunetta C; Mancardi G; Mandich P; Mandrioli J; Manera U; Marangi G; Marinou K; Marrali G; Marrosu MG; Mazzini L; Melis M; Messina S; Moglia C; Monsurro MR; Mosca L; Occhineri P; Origone P; Pani C; Penco S; Petrucci A; Piccirillo G; Pirisi A; Pisano F; Pugliatti M; Restagno G; Ricci C; Rita Murru M; Riva N; Sabatelli M; Salvi F; Santarelli M; Sideri R; Simone I; Spataro R; Tanel R; Tedeschi G; Tranquilli S; Tremolizzo L; Trojsi F; Volanti P; Zollino M; Abramzon Y; Arepalli S; Baloh RH; Bowser R; Brady CB; Brice A; Broach J; Campbell RH; Camu W; Chia R; Cooper-Knock J; Cusi D; Ding J; Drepper C; Drory VE; Dunckley TL; Eicher JD; Faghri F; Feldman E; Kay Floeter M; Fratta P; Geiger JT; Gerhard G; Gibbs JR; Gibson SB; Glass JD; Hardy J; Harms MB; Heiman-Patterson TD; Hernandez DG; Jansson L; Kamel F; Kirby J; Kowall NW; Laaksovirta H; Landi F; Le Ber I; Lumbroso S; MacGowan DJL; Maragakis NJ; Mouzat K; Murphy NA; Myllykangas L; Nalls MA; Orrell RW; Ostrow LW; Pamphlett R; Pickering-Brown S; Pioro E; Pliner HA; Pulst SM; Ravits JM; Renton AE; Rivera A; Robbrecht W; Rogaeva E; Rollinson S; Rothstein JD; Salvi E; Scholz SW; Sendtner M; Shaw PJ; Sidle KC; Simmons Z; Singleton AB; Stone DC; Sulkava R; Tienari PJ; Traynor BJ; Trojanowski JQ; Troncoso JC; Van Damme P; Van Deerlin VM; Van Den Bosch L; Zinman L; Stone DJ;/titolo:Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis/doi:10.1002%2Fana.25431/rivista:Annals of neurology/anno:2019/pagina_da:470/pagina_a:481/intervallo_pagine:470–481/volume:85
2019, ' Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis ', Annals of Neurology, vol. 85, no. 4, pp. 470-481 . https://doi.org/10.1002/ana.25431
Annals of Neurology
Annals of Neurology, Wiley, 2019, 85 (4), pp.470-481. ⟨10.1002/ana.25431⟩
info:cnr-pdr/source/autori:Bandres-Ciga S; Noyce AJ; Hemani G; Nicolas A; Calvo A; Mora G; Arosio A; Barberis M; Bartolomei I; Battistini S; Benigni M; Borghero G; Brunetti M; Cammarosano S; Cannas A; Canosa A; Capasso M; Caponnetto C; Caredda C; Carrera P; Casale F; Cavallaro S; Chiò A; Colletti T; Conforti FL; Conte A; Corrado L; Costantino E; D'Alfonso S; Fasano A; Femiano C; Ferrarese C; Fini N; Floris G; Fuda G; Giannini F; Grassano M; Ilardi A; La Bella V; Lattante S; Logroscino G; Logullo FO; Loi D; Lunetta C; Mancardi G; Mandich P; Mandrioli J; Manera U; Marangi G; Marinou K; Marrali G; Marrosu MG; Mazzini L; Melis M; Messina S; Moglia C; Monsurro MR; Mosca L; Occhineri P; Origone P; Pani C; Penco S; Petrucci A; Piccirillo G; Pirisi A; Pisano F; Pugliatti M; Restagno G; Ricci C; Rita Murru M; Riva N; Sabatelli M; Salvi F; Santarelli M; Sideri R; Simone I; Spataro R; Tanel R; Tedeschi G; Tranquilli S; Tremolizzo L; Trojsi F; Volanti P; Zollino M; Abramzon Y; Arepalli S; Baloh RH; Bowser R; Brady CB; Brice A; Broach J; Campbell RH; Camu W; Chia R; Cooper-Knock J; Cusi D; Ding J; Drepper C; Drory VE; Dunckley TL; Eicher JD; Faghri F; Feldman E; Kay Floeter M; Fratta P; Geiger JT; Gerhard G; Gibbs JR; Gibson SB; Glass JD; Hardy J; Harms MB; Heiman-Patterson TD; Hernandez DG; Jansson L; Kamel F; Kirby J; Kowall NW; Laaksovirta H; Landi F; Le Ber I; Lumbroso S; MacGowan DJL; Maragakis NJ; Mouzat K; Murphy NA; Myllykangas L; Nalls MA; Orrell RW; Ostrow LW; Pamphlett R; Pickering-Brown S; Pioro E; Pliner HA; Pulst SM; Ravits JM; Renton AE; Rivera A; Robbrecht W; Rogaeva E; Rollinson S; Rothstein JD; Salvi E; Scholz SW; Sendtner M; Shaw PJ; Sidle KC; Simmons Z; Singleton AB; Stone DC; Sulkava R; Tienari PJ; Traynor BJ; Trojanowski JQ; Troncoso JC; Van Damme P; Van Deerlin VM; Van Den Bosch L; Zinman L; Stone DJ;/titolo:Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis/doi:10.1002%2Fana.25431/rivista:Annals of neurology/anno:2019/pagina_da:470/pagina_a:481/intervallo_pagine:470–481/volume:85
2019, ' Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis ', Annals of Neurology, vol. 85, no. 4, pp. 470-481 . https://doi.org/10.1002/ana.25431
Annals of Neurology
Annals of Neurology, Wiley, 2019, 85 (4), pp.470-481. ⟨10.1002/ana.25431⟩
OBJECTIVE: To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). METHODS: Linkage disequilibrium score regression and Mendelian randomization were applied in a large-scale, data-driven manner to explore gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81ec44e96e87becc7f1c928039052519
http://hdl.handle.net/11591/406432
http://hdl.handle.net/11591/406432
Autor:
Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan J. Kenna, Mike A. Nalls, Pamela Keagle, Alberto M. Rivera, Wouter van Rheenen, Natalie A. Murphy, Joke J.F.A. van Vugt, Joshua T. Geiger, Rick A. Van der Spek, Hannah A. Pliner, null Shankaracharya, Bradley N. Smith, Giuseppe Marangi, Simon D. Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D. Eicher, Aoife Kenna, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L. Conforti, Giuseppe Borghero, Sonia Messina, Isabella L. Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O. Logullo, Sandra D’Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B. Goldstein, Aaron D. Gitler, Tim Harris, Richard M. Myers, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C. Zody, Julia Kaye, Steven Finkbeiner, Stacia K. Wyman, Alex LeNail, Leandro Lima, Ernest Fraenkel, Clive N. Svendsen, Leslie M. Thompson, Jennifer E. Van Eyk, James D. Berry, Timothy M. Miller, Stephen J. Kolb, Merit Cudkowicz, Emily Baxi, Michael Benatar, J. Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P. Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering-Brown, Richard W. Orrell, Katie C. Sidle, Andrea Malaspina, John Hardy, Andrew B. Singleton, Janel O. Johnson, Sampath Arepalli, Peter C. Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, José Luis Muñoz-Blanco, Dena G. Hernandez, Jinhui Ding, J. Raphael Gibbs, Sonja W. Scholz, Mary Kay Floeter, Roy H. Campbell, Francesco Landi, Robert Bowser, Stefan M. Pulst, John M. Ravits, Daniel J.L. MacGowan, Janine Kirby, Erik P. Pioro, Roger Pamphlett, James Broach, Glenn Gerhard, Travis L. Dunckley, Christopher B. Brady, Neil W. Kowall, Juan C. Troncoso, Isabelle Le Ber, Kevin Mouzat, Serge Lumbroso, Terry D. Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H. Baloh, Tim M. Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R. Van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L. McLaughlin, Michael A. Van Es, Markus Weber, Kevin B. Boylan, Marka Van Blitterswijk, Rosa Rademakers, Karen E. Morrison, A. Nazli Basak, Jesús S. Mora, Vivian E. Drory, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Orla Hardiman, Kelly L. Williams, Jennifer A. Fifita, Garth A. Nicholson, Ian P. Blair, Guy A. Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Ekaterina Rogaeva, Lorne Zinman, Lyle W. Ostrow, Nicholas J. Maragakis, Jeffrey D. Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A. Goutman, Eva L. Feldman, Summer B. Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, William Camu, John Q. Trojanowski, Vivianna M. Van Deerlin, Robert H. Brown, Leonard H. van den Berg, Jan H. Veldink, Matthew B. Harms, Jonathan D. Glass, David J. Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E. Shaw, Bryan J. Traynor, John E. Landers, Isabella Simone, Giancarlo Logroscino, Ilaria Bartolomei, Maria Rita Murru, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Francesco Marrosu, Maria Giovanna Marrosu, Gianluca Floris, Antonino Cannas, Gianluigi Mancardi, Paola Origone, Paola Mandich, Sebastiano Cavallaro, Kalliopi Marinou, Riccardo Sideri, Silvana Penco, Lorena Mosca, Giuseppe Lauria Pinter, Massimo Corbo, Paola Carrera, Nicola Fini, Antonio Fasano, Lucio Tremolizzo, Alessandro Arosio, Carlo Ferrarese, Gioacchino Tedeschi, Maria Rosaria Monsurrò, Giovanni Piccirillo, Cinzia Femiano, Anna Ticca, Enzo Ortu, Rossella Spataro, Tiziana Colletti, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Marialuisa Santarelli, Antonio Petrucci, Maura Pugliatti, Angelo Pirisi, Leslie D. Parish, Patrizia Occhineri, Fabio Giannini, Claudia Ricci, Michele Benigni, Tea B. Cau, Daniela Loi, Cristina Moglia, Maura Brunetti, Marco Barberis, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Canosa, Antonio Ilardi, Umberto Manera, Maurizio Grassano, Raffaella Tanel, Fabrizio Pisano, Neil A. Shneider, Stephen Goutman, Siddharthan Chandran, Suvankar Pal, George Manousakis, Stanley H. Appel, Ericka Simpson, Leo Wang, Summer Gibson, Richard Bedlack, David Lacomis, Dhruv Sareen, Alexander Sherman, Lucie Bruijn, Michelle Penny, Andrew S. Allen, Stanley Appel, Richard S. Bedlack, Braden E. Boone, Robert Brown, John P. Carulli, Alessandra Chesi, Wendy K. Chung, Elizabeth T. Cirulli, Gregory M. Cooper, Julien Couthouis, Aaron G. Day-Williams, Patrick A. Dion, Yujun Han, Sebastian D. Hayes, Angela L. Jones, Jonathan Keebler, Brian J. Krueger, Brittany N. Lasseigne, Shawn E. Levy, Yi-Fan Lu, Tom Maniatis, Slavé Petrovski, Alya R. Raphael, Zhong Ren, Katherine B. Sims, John F. Staropoli, Lindsay L. Waite, Quanli Wang, Jack R. Wimbish, Winnie W. Xin, Justin Kwan, James R. Broach, Ximena Arcila-Londono, Edward B. Lee, Noah Zaitlen, Gregory A. Cox, Steve Finkbeiner, Efthimios Dardiotis, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos A. Patsopoulos, Joshua Dubnau, Avindra Nath, Stacia Wyman, Alexander LeNail, Jenny Van Eyk, Stephan Züchner, Rebecca Schule, Jacob McCauley, Sumaira Hussain, Anne Cooley, Marielle Wallace, Christine Clayman, Richard Barohn, Jeffrey Statland, John Ravits, Andrea Swenson, Carlayne Jackson, Jaya Trivedi, Shaida Khan, Jonathan Katz, Liberty Jenkins, Ted Burns, Kelly Gwathmey, James Caress, Corey McMillan, Lauren Elman, Erik Pioro, Jeannine Heckmann, Yuen So, David Walk, Samuel Maiser, Jinghui Zhang, Fabiola De Marchi, Stefania Corti, Mauro Ceroni, Gabriele Siciliano, Massimiliano Filosto, Maurizio Inghilleri, Silvia Peverelli, Claudia Colombrita, Barbara Poletti, Luca Maderna, Roberto Del Bo, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Viviana Pensato, Barbara Castellotti, Vincent Meininger, Gérard Besson, Emmeline Lagrange, Pierre Clavelou, Nathalie Guy, Philippe Couratier, Patrick Vourch, Véronique Danel, Emilien Bernard, Gwendal Lemasson, Ahmad Al Kheifat, Peter Andersen, Adriano Chio, Jonathan Cooper-Knock, Annelot Dekker, Vivian Drory, Alberto Garcia Redondo, Marc Gotkine, Winston Hide, Alfredo Iacoangeli, Jonathan Glass, Kevin Kenna, Matthew Kiernan, John Landers, Russell McLaughlin, Jonathan Mill, Miguel Mitne Neto, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Susana Pinto, Sara Pulit, Pamela Shaw, Chris Shaw, William Sproviero, Gijs Tazelaar, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristel van Eijk, Michael van Es, Joke van Vugt, Jan Veldink, Mayana Zatz, Denis C. Bauer, Natalie A. Twine
Publikováno v:
Neuron, 97(6), 1268. Cell Press
Neuron, 97(6), 1268
Neuron
ITALSGEN Consortium 2018, ' Genome-wide Analyses Identify KIF5A as a Novel ALS Gene ', Neuron, vol. 97, no. 6, pp. 1268-1283.e6 . https://doi.org/10.1016/j.neuron.2018.02.027
PMC
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
1283.e
Neuron, 97(6), 1268-1283.e6. Cell Press
Neuron, Elsevier, 2018, 97 (6), pp.1268--1283.e6. ⟨10.1016/j.neuron.2018.02.027⟩
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Neuron, vol 97, iss 6
Neuron (Camb. Mass.) 97 (2018): 1268–1283.e6. doi:10.1016/j.neuron.2018.02.027
info:cnr-pdr/source/autori:Nicolas, Aude; Kenna, Kevin P.; Renton, Alan E.; Renton, Alan E.; Renton, Alan E.; Ticozzi, Nicola; Ticozzi, Nicola; Faghri, Faraz; Faghri, Faraz; Chia, Ruth; Dominov, Janice A.; Kenna, Brendan J.; Nalls, Mike A.; Nalls, Mike A.; Keagle, Pamela; Rivera, Alberto M.; van Rheenen, Wouter; Murphy, Natalie A.; van Vugt, Joke J.F.A.; Geiger, Joshua T.; Van der Spek, Rick A.; Pliner, Hannah A.; Shankaracharya, null; Smith, Bradley N.; Marangi, Giuseppe; Marangi, Giuseppe; Topp, Simon D.; Abramzon, Yevgeniya; Abramzon, Yevgeniya; Gkazi, Athina Soragia; Eicher, John D.; Kenna, Aoife; Logullo, Francesco O.; Simone, Isabella; Logroscino, Giancarlo; Salvi, Fabrizio; Bartolomei, Ilaria; Borghero, Giuseppe; Murru, Maria Rita; Costantino, Emanuela; Pani, Carla; Puddu, Roberta; Caredda, Carla; Piras, Valeria; Tranquilli, Stefania; Cuccu, Stefania; Corongiu, Daniela; Melis, Maurizio; Milia, Antonio; Marrosu, Francesco; Marrosu, Maria Giovanna; Floris, Gianluca; Cannas, Antonino; Capasso, Margherita; Caponnetto, Claudia; Mancardi, Gianluigi; Origone, Paola; Mandich, Paola; Conforti, Francesca L.; Cavallaro, Sebastiano; Mora, Gabriele; Marinou, Kalliopi; Sideri, Riccardo; Penco, Silvana; Mosca, Lorena; Lunetta, Christian; Pinter, Giuseppe Lauria; Corbo, Massimo; Riva, Nilo; Carrera, Paola; Volanti, Paolo; Mandrioli, Jessica; Fini, Nicola; Fasano, Antonio; Tremolizzo, Lucio; Arosio, Alessandro; Ferrarese, Carlo; Trojsi, Francesca; Tedeschi, Gioacchino; Monsurrò, Maria Rosaria; Piccirillo, Giovanni; Femiano, Cinzia; Ticca, Anna; Ortu, Enzo; La Bella, Vincenzo; Spataro, Rossella; Colletti, Tiziana; Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe; Santarelli, Marialuisa; Petrucci, Antonio; Pugliatti, Maura; Pirisi, Angelo; Parish, Leslie D.; Occhineri, Patrizia; Giannini, Fabio/titolo:Genome-wide Analyses Identify KIF5A as a Novel ALS Gene/doi:10.1016%2Fj.neuron.2018.02.027/rivista:Neuron (Camb. Mass.)/anno:2018/pagina_da:1268/pagina_a:1283.e6/intervallo_pagine:1268–1283.e6/volume:97
Neuron, 97(6), 1268
Neuron
ITALSGEN Consortium 2018, ' Genome-wide Analyses Identify KIF5A as a Novel ALS Gene ', Neuron, vol. 97, no. 6, pp. 1268-1283.e6 . https://doi.org/10.1016/j.neuron.2018.02.027
PMC
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
1283.e
Neuron, 97(6), 1268-1283.e6. Cell Press
Neuron, Elsevier, 2018, 97 (6), pp.1268--1283.e6. ⟨10.1016/j.neuron.2018.02.027⟩
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Neuron, vol 97, iss 6
Neuron (Camb. Mass.) 97 (2018): 1268–1283.e6. doi:10.1016/j.neuron.2018.02.027
info:cnr-pdr/source/autori:Nicolas, Aude; Kenna, Kevin P.; Renton, Alan E.; Renton, Alan E.; Renton, Alan E.; Ticozzi, Nicola; Ticozzi, Nicola; Faghri, Faraz; Faghri, Faraz; Chia, Ruth; Dominov, Janice A.; Kenna, Brendan J.; Nalls, Mike A.; Nalls, Mike A.; Keagle, Pamela; Rivera, Alberto M.; van Rheenen, Wouter; Murphy, Natalie A.; van Vugt, Joke J.F.A.; Geiger, Joshua T.; Van der Spek, Rick A.; Pliner, Hannah A.; Shankaracharya, null; Smith, Bradley N.; Marangi, Giuseppe; Marangi, Giuseppe; Topp, Simon D.; Abramzon, Yevgeniya; Abramzon, Yevgeniya; Gkazi, Athina Soragia; Eicher, John D.; Kenna, Aoife; Logullo, Francesco O.; Simone, Isabella; Logroscino, Giancarlo; Salvi, Fabrizio; Bartolomei, Ilaria; Borghero, Giuseppe; Murru, Maria Rita; Costantino, Emanuela; Pani, Carla; Puddu, Roberta; Caredda, Carla; Piras, Valeria; Tranquilli, Stefania; Cuccu, Stefania; Corongiu, Daniela; Melis, Maurizio; Milia, Antonio; Marrosu, Francesco; Marrosu, Maria Giovanna; Floris, Gianluca; Cannas, Antonino; Capasso, Margherita; Caponnetto, Claudia; Mancardi, Gianluigi; Origone, Paola; Mandich, Paola; Conforti, Francesca L.; Cavallaro, Sebastiano; Mora, Gabriele; Marinou, Kalliopi; Sideri, Riccardo; Penco, Silvana; Mosca, Lorena; Lunetta, Christian; Pinter, Giuseppe Lauria; Corbo, Massimo; Riva, Nilo; Carrera, Paola; Volanti, Paolo; Mandrioli, Jessica; Fini, Nicola; Fasano, Antonio; Tremolizzo, Lucio; Arosio, Alessandro; Ferrarese, Carlo; Trojsi, Francesca; Tedeschi, Gioacchino; Monsurrò, Maria Rosaria; Piccirillo, Giovanni; Femiano, Cinzia; Ticca, Anna; Ortu, Enzo; La Bella, Vincenzo; Spataro, Rossella; Colletti, Tiziana; Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe; Santarelli, Marialuisa; Petrucci, Antonio; Pugliatti, Maura; Pirisi, Angelo; Parish, Leslie D.; Occhineri, Patrizia; Giannini, Fabio/titolo:Genome-wide Analyses Identify KIF5A as a Novel ALS Gene/doi:10.1016%2Fj.neuron.2018.02.027/rivista:Neuron (Camb. Mass.)/anno:2018/pagina_da:1268/pagina_a:1283.e6/intervallo_pagine:1268–1283.e6/volume:97
© 2018 Elsevier Inc.
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeb7ec307960d0e43e5575923f90d005
https://dspace.library.uu.nl/handle/1874/363799
https://dspace.library.uu.nl/handle/1874/363799