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Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1.
Herrmann, Laura; Gelderblom, Mathias; Bester, Maxim; Deininger, Natalie; Schütze, Thorsten; Hidding, Ute; Gross, Caspar; Buena-Atienza, Elena; Dufke, Claudia; Gerloff, Christian; Haack, Tobias B; Zittel, Simone.
Afiliação
  • Herrmann L; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Gelderblom M; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Bester M; Department of Neuroradiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Deininger N; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany; Center for Rare Diseases, University of Tuebingen, Tuebingen, Germany.
  • Schütze T; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Hidding U; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Gross C; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany; NGS Competence Center Tuebingen (NCCT), University of Tuebingen, Tuebingen, Germany.
  • Buena-Atienza E; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany; NGS Competence Center Tuebingen (NCCT), University of Tuebingen, Tuebingen, Germany.
  • Dufke C; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany; Center for Rare Diseases, University of Tuebingen, Tuebingen, Germany.
  • Gerloff C; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany; Center for Rare Diseases, University of Tuebingen, Tuebingen, Germany.
  • Zittel S; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address: s.zittel-dirks@uke.de.
Parkinsonism Relat Disord ; 95: 54-56, 2022 02.
Article em En | MEDLINE | ID: mdl-35030450
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar Limite: Humans Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar Limite: Humans Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha