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Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Cortese, Andrea; Simone, Roberto; Sullivan, Roisin; Vandrovcova, Jana; Tariq, Huma; Yau, Wai Yan; Humphrey, Jack; Jaunmuktane, Zane; Sivakumar, Prasanth; Polke, James; Ilyas, Muhammad; Tribollet, Eloise; Tomaselli, Pedro J; Devigili, Grazia; Callegari, Ilaria; Versino, Maurizio; Salpietro, Vincenzo; Efthymiou, Stephanie; Kaski, Diego; Wood, Nick W; Andrade, Nadja S; Buglo, Elena; Rebelo, Adriana; Rossor, Alexander M; Bronstein, Adolfo; Fratta, Pietro; Marques, Wilson J; Züchner, Stephan; Reilly, Mary M; Houlden, Henry.
Afiliación
  • Cortese A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK. andrea.cortese@ucl.ac.uk.
  • Simone R; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Sullivan R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Vandrovcova J; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Tariq H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Yau WY; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Humphrey J; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Jaunmuktane Z; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Sivakumar P; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Polke J; Neurogenetics Laboratory, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Ilyas M; Department of Biological Sciences, International Islamic University, Islamabad, Pakistan.
  • Tribollet E; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Tomaselli PJ; Department of Neurology, School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
  • Devigili G; UO Neurologia I, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.
  • Callegari I; IRCCS Mondino Foundation, Pavia, Italy.
  • Versino M; IRCCS Mondino Foundation, Pavia, Italy.
  • Salpietro V; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Efthymiou S; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Kaski D; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Wood NW; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Andrade NS; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Buglo E; Department of Psychiatry and Behavioural Sciences, Center for Therapeutic Innovation, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Rebelo A; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Rossor AM; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Bronstein A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Fratta P; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Marques WJ; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Züchner S; Department of Neurology, School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
  • Reilly MM; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
Nat Genet ; 51(4): 649-658, 2019 04.
Article en En | MEDLINE | ID: mdl-30926972
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Ataxia / Intrones / Secuencias Repetitivas de Ácidos Nucleicos / Proteína de Replicación C Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Humans / Male / Middle aged Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Ataxia / Intrones / Secuencias Repetitivas de Ácidos Nucleicos / Proteína de Replicación C Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Humans / Male / Middle aged Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido