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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik, Natalia; Magri, Stefania; Currò, Riccardo; Abati, Elena; Facchini, Stefano; Corbetta, Marinella; Macpherson, Hannah; Di Bella, Daniela; Sarto, Elisa; Stevanovski, Igor; Chintalaphani, Sanjog R; Akcimen, Fulya; Manini, Arianna; Vegezzi, Elisa; Quartesan, Ilaria; Montgomery, Kylie-Ann; Pirota, Valentina; Crespan, Emmanuele; Perini, Cecilia; Grupelli, Glenda Paola; Tomaselli, Pedro J; Marques, Wilson; Shaw, Joseph; Polke, James; Salsano, Ettore; Fenu, Silvia; Pareyson, Davide; Pisciotta, Chiara; Tofaris, George K; Nemeth, Andrea H; Ealing, John; Radunovic, Aleksandar; Kearney, Seamus; Kumar, Kishore R; Vucic, Steve; Kennerson, Marina; Reilly, Mary M; Houlden, Henry; Deveson, Ira; Tucci, Arianna; Taroni, Franco; Cortese, Andrea.
Afiliação
  • Dominik N; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
  • Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.
  • Currò R; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
  • Abati E; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy.
  • Facchini S; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
  • Corbetta M; Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy.
  • Macpherson H; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
  • Di Bella D; IRCCS Mondino Foundation, Pavia 27100, Italy.
  • Sarto E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.
  • Stevanovski I; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
  • Chintalaphani SR; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.
  • Akcimen F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.
  • Manini A; Genomics Pillar, Garvan Institute of Medical Research, Sydney 2010, Australia.
  • Vegezzi E; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Darlinghurst 2010, Australia.
  • Quartesan I; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Darlinghurst 2010, Australia.
  • Montgomery KA; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 2292, USA.
  • Pirota V; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
  • Crespan E; Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy.
  • Perini C; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan 20145, Italy.
  • Grupelli GP; IRCCS Mondino Foundation, Pavia 27100, Italy.
  • Tomaselli PJ; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy.
  • Marques W; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
  • Shaw J; G4-INTERACT, USERN, 27100 Pavia, Italy.
  • Polke J; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza', Pavia 27100, Italy.
  • Salsano E; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza', Pavia 27100, Italy.
  • Fenu S; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza', Pavia 27100, Italy.
  • Pareyson D; Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto 2650, Brazil.
  • Pisciotta C; Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto 2650, Brazil.
  • Nemeth AH; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
  • Ealing J; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
  • Radunovic A; Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan 20126, Italy.
  • Kearney S; Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan 20126, Italy.
  • Kumar KR; Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan 20126, Italy.
  • Vucic S; Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan 20126, Italy.
  • Kennerson M; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.
  • Reilly MM; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.
  • Houlden H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK.
  • Deveson I; Salford Royal NHS Foundation Trust Greater Manchester Neuroscience Centre, Manchester Centre for Clinical Neurosciences Salford, Greater Manchester M6 8HD, UK.
  • Tucci A; Barts MND Centre, Royal London Hospital, London E1 1BB, UK.
  • Taroni F; Department of Neurology, Royal Victoria Hospital, Belfast BT12 6BA, UK.
  • Cortese A; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.
Brain ; 146(12): 5060-5069, 2023 12 01.
Article em En | MEDLINE | ID: mdl-37450567
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome / Doenças Vestibulares / Ataxia Cerebelar / Doenças do Sistema Nervoso Periférico Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome / Doenças Vestibulares / Ataxia Cerebelar / Doenças do Sistema Nervoso Periférico Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article