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Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient.
Gschwind, Markus; Garcia Segarra, Nuria; Schaller, André; Bolognini, Ramona; Nuoffer, Jean-Marc; Hourez, Raphael; Deprez, Manuel; Lhermitte, Benoit; Maeder, Philippe; Tran, Christel; Kuntzer, Thierry.
Afiliação
  • Gschwind M; Clinic of Neurology, Kantonsspital Aarau, Aarau, Switzerland.
  • Garcia Segarra N; Department of Neurology, Geneva University Hospital and University of Geneva, Geneva, Switzerland.
  • Schaller A; Department of Neurology, Lausanne University Hospital CHUV, Lausanne, Switzerland.
  • Bolognini R; Center for Molecular Diseases, Division of Genetic Medicine, Lausanne University Hospital, University of Lausanne, Switzerland.
  • Nuoffer JM; Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland.
  • Hourez R; Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland.
  • Deprez M; University Institute of Clinical Chemistry, Inselspital, Bern University Hospital, Bern, Switzerland.
  • Lhermitte B; Department of Neurology, Centre Hospitalier Universitaire Brugman, Brussels, Belgium.
  • Maeder P; Department of Pathology, Lausanne University Hospital CHUV, Lausanne, Switzerland.
  • Tran C; Departement of Pathology, Hautepierre University Hospital, France.
  • Kuntzer T; Department of Neuroradiology, Lausanne University Hospital CHUV, Lausanne, Switzerland.
Ann Clin Transl Neurol ; 9(6): 888-892, 2022 06.
Article em En | MEDLINE | ID: mdl-35482023
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Ataxia Cerebelar Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Ataxia Cerebelar Idioma: En Ano de publicação: 2022 Tipo de documento: Article