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Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population.
Lam, Tanya; Rocca, Clarissa; Ibanez, Kristina; Dalmia, Anupriya; Tallman, Samuel; Hadjivassiliou, Marios; Hensiek, Anke; Nemeth, Andrea; Facchini, Stefano; Wood, Nicholas; Cortese, Andrea; Houlden, Henry; Tucci, Arianna.
Afiliación
  • Lam T; Department of Clinical Genetics, Great Ormond Street Hospital NHS Trust, London, WC1N 3JH, UK.
  • Rocca C; Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK.
  • Ibanez K; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • Dalmia A; Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK.
  • Tallman S; Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK.
  • Hadjivassiliou M; Genomics England, London, E14 5AB, UK.
  • Hensiek A; Academic Department of Neurosciences and Neuroradiology, Sheffield Teaching Hospitals NHS Trust, Sheffield, S10 2JF, UK.
  • Nemeth A; Department of Clinical Neurosciences, Addenbrookes Hospital, Cambridge, CB2 0QQ, UK.
  • Facchini S; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, Oxford, OX3 9DU, UK.
  • Cortese A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • Tucci A; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, 27100, Italy.
Brain Commun ; 5(5): fcad244, 2023.
Article en En | MEDLINE | ID: mdl-37810464
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Brain Commun Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Brain Commun Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido