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Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.
Erdmann, Hannes; Schöberl, Florian; Giurgiu, Madalina; Leal Silva, Rafaela Magalhaes; Scholz, Veronika; Scharf, Florentine; Wendlandt, Martin; Kleinle, Stephanie; Deschauer, Marcus; Nübling, Georg; Heide, Wolfgang; Babacan, Sait Seymen; Schneider, Christine; Neuhann, Teresa; Hahn, Katrin; Schoser, Benedikt; Holinski-Feder, Elke; Wolf, Dieter A; Abicht, Angela.
Afiliação
  • Erdmann H; Medical Genetics Center (MGZ), Munich, 80335, Germany.
  • Schöberl F; Friedrich-Baur-Institute, Department of Neurology, Klinikum der Universität, Ludwig-Maximilians-Universität, Munich, 80336, Germany.
  • Giurgiu M; Department of Neurology, Klinikum der Universität, Ludwig-Maximilians-Universität, Munich, 81377, Germany.
  • Leal Silva RM; Medical Genetics Center (MGZ), Munich, 80335, Germany.
  • Scholz V; Experimental and Clinical Research Center of the Max Delbrück Center for Molecular Medicine and Charité-Universitätsmedizin Berlin, Berlin, 13125, Deutschland.
  • Scharf F; Medical Genetics Center (MGZ), Munich, 80335, Germany.
  • Wendlandt M; Medical Genetics Center (MGZ), Munich, 80335, Germany.
  • Kleinle S; Medical Genetics Center (MGZ), Munich, 80335, Germany.
  • Deschauer M; Medical Genetics Center (MGZ), Munich, 80335, Germany.
  • Nübling G; Medical Genetics Center (MGZ), Munich, 80335, Germany.
  • Heide W; Department of Neurology, Klinikum Rechts der Isar, Technical University of Munich, Munich, 81675, Germany.
  • Babacan SS; Department of Neurology, Klinikum der Universität, Ludwig-Maximilians-Universität, Munich, 81377, Germany.
  • Schneider C; Department of Neurology, General Hospital Celle, Celle, 29223, Germany.
  • Neuhann T; Department of Neurology and Neurological Intensive Care, Klinikum Darmstadt, Darmstadt, 64283, Germany.
  • Hahn K; Department of Neurology, University Medical Center Augsburg, Augsburg, 86156, Germany.
  • Schoser B; Medical Genetics Center (MGZ), Munich, 80335, Germany.
  • Holinski-Feder E; Department of Neurology and Experimental Neurology, Charité Berlin, Berlin, 10117, Germany.
  • Wolf DA; Friedrich-Baur-Institute, Department of Neurology, Klinikum der Universität, Ludwig-Maximilians-Universität, Munich, 80336, Germany.
  • Abicht A; Medical Genetics Center (MGZ), Munich, 80335, Germany.
Brain ; 146(5): 1831-1843, 2023 05 02.
Article em En | MEDLINE | ID: mdl-36227727
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Degenerações Espinocerebelares / Ataxia Cerebelar Limite: Adult / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Degenerações Espinocerebelares / Ataxia Cerebelar Limite: Adult / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article