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Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.
Rydning, Siri L; Koht, Jeanette; Sheng, Ying; Sowa, Piotr; Hjorthaug, Hanne S; Wedding, Iselin M; Erichsen, Anne Kjersti; Hovden, Inger Anette; Backe, Paul H; Tallaksen, Chantal M E; Vigeland, Magnus D; Selmer, Kaja K.
Afiliación
  • Rydning SL; Institute of Clinical Medicine, University of Oslo, Norway.
  • Koht J; Department of Neurology, Oslo University Hospital, Norway.
  • Sheng Y; Institute of Clinical Medicine, University of Oslo, Norway.
  • Sowa P; Department of Neurology, Vestre Viken Hospital, Norway.
  • Hjorthaug HS; Department of Medical Genetics, Oslo University Hospital, Norway.
  • Wedding IM; Department of Radiology and Nuclear Medicine, Oslo University Hospital, Norway.
  • Erichsen AK; Department of Medical Genetics, Oslo University Hospital, Norway.
  • Hovden IA; Department of Neurology, Oslo University Hospital, Norway.
  • Backe PH; Department of Ophthalmology, Oslo University Hospital, Norway.
  • Tallaksen CME; Department of Clinical Neurophysiology, Oslo University Hospital, Norway.
  • Vigeland MD; Department of Medical Biochemistry, University of Oslo, Norway.
  • Selmer KK; Department of Microbiology, Oslo University Hospital, Norway.
Brain ; 142(4): e12, 2019 04 01.
Article en En | MEDLINE | ID: mdl-30847471
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Atrofia Óptica / Ataxias Espinocerebelosas / Paraparesia Espástica Límite: Humans Idioma: En Revista: Brain Año: 2019 Tipo del documento: Article País de afiliación: Noruega 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 Asunto principal: Atrofia Óptica / Ataxias Espinocerebelosas / Paraparesia Espástica Límite: Humans Idioma: En Revista: Brain Año: 2019 Tipo del documento: Article País de afiliación: Noruega Pais de publicación: Reino Unido