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Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy.
Mosbech, Mai-Britt; Olsen, Anne S B; Neess, Ditte; Ben-David, Oshrit; Klitten, Laura L; Larsen, Jan; Sabers, Anne; Vissing, John; Nielsen, Jørgen E; Hasholt, Lis; Klein, Andres D; Tsoory, Michael M; Hjalgrim, Helle; Tommerup, Niels; Futerman, Anthony H; Møller, Rikke S; Færgeman, Nils J.
Afiliación
  • Mosbech MB; Department of Biochemistry and Molecular Biology, University of Southern Denmark Odense M, DK-5230, Denmark.
  • Olsen AS; Department of Biochemistry and Molecular Biology, University of Southern Denmark Odense M, DK-5230, Denmark.
  • Neess D; Department of Biochemistry and Molecular Biology, University of Southern Denmark Odense M, DK-5230, Denmark.
  • Ben-David O; Department of Biological Chemistry, Weizmann Institute of Science Rehovot, 76100, Israel.
  • Klitten LL; The Danish Epilepsy Centre, Filadelfia Dianalund, DK-4293, Denmark.
  • Larsen J; The Danish Epilepsy Centre, Filadelfia Dianalund, DK-4293, Denmark ; Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen Copenhagen, DK-2100, Denmark.
  • Sabers A; Department of Neurology, Rigshospitalet, University of Copenhagen Copenhagen, DK-2100, Denmark.
  • Vissing J; Department of Neurology, Rigshospitalet, University of Copenhagen Copenhagen, DK-2100, Denmark.
  • Nielsen JE; Neurogenetics Clinic, Danish Dementia Research Centre, Department of Neurology, Rigshospitalet, Copenhagen University Hospital Copenhagen, DK-2100, Denmark.
  • Hasholt L; Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen Copenhagen, DK-2100, Denmark.
  • Klein AD; Department of Biological Chemistry, Weizmann Institute of Science Rehovot, 76100, Israel.
  • Tsoory MM; Behavioral and Physiological Phenotyping Unit, Department of Veterinary Resources, Weizmann Institute of Science Rehovot, 76100, Israel.
  • Hjalgrim H; The Danish Epilepsy Centre, Filadelfia Dianalund, DK-4293, Denmark ; Institute for Regional Health Services, University of Southern Denmark Odense, Denmark.
  • Tommerup N; Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen Copenhagen, DK-2100, Denmark.
  • Futerman AH; Department of Biological Chemistry, Weizmann Institute of Science Rehovot, 76100, Israel.
  • Møller RS; The Danish Epilepsy Centre, Filadelfia Dianalund, DK-4293, Denmark ; Institute for Regional Health Services, University of Southern Denmark Odense, Denmark.
  • Færgeman NJ; Department of Biochemistry and Molecular Biology, University of Southern Denmark Odense M, DK-5230, Denmark.
Ann Clin Transl Neurol ; 1(2): 88-98, 2014 Feb.
Article en En | MEDLINE | ID: mdl-25356388
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Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Etiology_studies Idioma: En Revista: Ann Clin Transl Neurol Año: 2014 Tipo del documento: Article País de afiliación: Dinamarca
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Tipo de estudio: Etiology_studies Idioma: En Revista: Ann Clin Transl Neurol Año: 2014 Tipo del documento: Article País de afiliación: Dinamarca