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Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease.
Wallenius, Joel; Kafantari, Efthymia; Jhaveri, Emma; Gorcenco, Sorina; Ameur, Adam; Karremo, Christin; Dobloug, Sigurd; Karrman, Kristina; de Koning, Tom; Ilinca, Andreea; Landqvist Waldö, Maria; Arvidsson, Andreas; Persson, Staffan; Englund, Elisabet; Ehrencrona, Hans; Puschmann, Andreas.
Afiliação
  • Wallenius J; Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, 222 42 Lund, Sweden.
  • Kafantari E; Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, 222 42 Lund, Sweden.
  • Jhaveri E; Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, 222 42 Lund, Sweden.
  • Gorcenco S; Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, 222 42 Lund, Sweden.
  • Ameur A; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, 751 23 Uppsala, Sweden.
  • Karremo C; Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, 222 42 Lund, Sweden.
  • Dobloug S; Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, 222 42 Lund, Sweden; Department of Neurology, Helsingborg General Hospital, 252 23 Helsingborg, Sweden.
  • Karrman K; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, 222 42 Lund, Sweden; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Region Skåne, 221 85 Lund, Sweden.
  • de Koning T; Pediatrics, Department of Clinical Sciences Lund, Lund University, 221 84 Lund, Sweden.
  • Ilinca A; Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, 222 42 Lund, Sweden.
  • Landqvist Waldö M; Division of Clinical Sciences Helsingborg, Department of Clinical Sciences Lund, Lund University, 221 84 Lund, Sweden.
  • Arvidsson A; Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, 222 42 Lund, Sweden.
  • Persson S; Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, 222 42 Lund, Sweden.
  • Englund E; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Region Skåne, 221 85 Lund, Sweden; Pathology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, 222 42 Lund, Sweden.
  • Ehrencrona H; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, 222 42 Lund, Sweden; Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Region Skåne, 221 85 Lund, Sweden.
  • Puschmann A; Neurology, Department of Clinical Sciences Lund, Lund University, Skåne University Hospital, 222 42 Lund, Sweden; SciLifeLab National Research Infrastructure, Lund University, 221 84 Lund, Sweden. Electronic address: andreas.puschmann@med.lu.se.
Am J Hum Genet ; 111(1): 82-95, 2024 Jan 04.
Article em En | MEDLINE | ID: mdl-38035881
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Degenerações Espinocerebelares / Ataxia Cerebelar / Ataxias Espinocerebelares Idioma: En Ano de publicação: 2024 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 / Ataxias Espinocerebelares Idioma: En Ano de publicação: 2024 Tipo de documento: Article