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Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions.
Facchini, Stefano; Dominik, Natalia; Manini, Arianna; Efthymiou, Stephanie; Currò, Riccardo; Rugginini, Bianca; Vegezzi, Elisa; Quartesan, Ilaria; Perrone, Benedetta; Kutty, Shahedah Koya; Galassi Deforie, Valentina; Schnekenberg, Ricardo P; Abati, Elena; Pichiecchio, Anna; Valente, Enza Maria; Tassorelli, Cristina; Reilly, Mary M; Houlden, Henry; Bugiardini, Enrico; Cortese, Andrea.
Afiliação
  • Facchini S; IRCCS Mondino Foundation, 27100 Pavia, Italy.
  • Dominik N; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
  • Manini A; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
  • Efthymiou S; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
  • Currò R; Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.
  • Rugginini B; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy.
  • Vegezzi E; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
  • Quartesan I; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
  • Perrone B; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
  • Kutty SK; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
  • Galassi Deforie V; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
  • Schnekenberg RP; IRCCS Mondino Foundation, 27100 Pavia, Italy.
  • Abati E; IRCCS Mondino Foundation, 27100 Pavia, Italy.
  • Pichiecchio A; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
  • Valente EM; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
  • Tassorelli C; Department of Internal Medicine, Kulliyah of Medicine, International Islamic University Malaysia (IIUM), Pahang 53100, Malaysia.
  • Reilly MM; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
  • Houlden H; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
  • Bugiardini E; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy.
  • Cortese A; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
Biomolecules ; 13(10)2023 10 19.
Article em En | MEDLINE | ID: mdl-37892228
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Vestibulares / Ataxia Cerebelar / Doenças do Sistema Nervoso Periférico / Vestibulopatia Bilateral 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: Doenças Vestibulares / Ataxia Cerebelar / Doenças do Sistema Nervoso Periférico / Vestibulopatia Bilateral Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article