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A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.
Aulitzky, Anna; Friedrich, Katrin; Gläser, Dieter; Gastl, Regina; Kubisch, Christian; Ludolph, Albert C; Volk, Alexander E.
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  • Aulitzky A; Department of Neurology, University Hospital Ulm, Oberer Eselsberg 45, 89081 Ulm, Germany.
  • Friedrich K; Institute of Human Genetics, University of Ulm, Albert-Einstein Allee 11, 89081 Ulm, Germany; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg, Germany.
  • Gläser D; genetikum, Laboratory of Cytogenetics and Molecular Genetics, Wegener Str. 15, 89231 Neu-Ulm, Germany.
  • Gastl R; Department of Neurology, University Hospital Ulm, Oberer Eselsberg 45, 89081 Ulm, Germany.
  • Kubisch C; Institute of Human Genetics, University of Ulm, Albert-Einstein Allee 11, 89081 Ulm, Germany; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg, Germany.
  • Ludolph AC; Department of Neurology, University Hospital Ulm, Oberer Eselsberg 45, 89081 Ulm, Germany. Electronic address: Albert.Ludolph@rku.de.
  • Volk AE; Institute of Human Genetics, University of Ulm, Albert-Einstein Allee 11, 89081 Ulm, Germany; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg, Germany. Electronic address: a.volk@uke.de.
J Neurol Sci ; 347(1-2): 352-5, 2014 Dec 15.
Article en En | MEDLINE | ID: mdl-25315759
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Adenosina Trifosfatasas / Hermanos / Mosaicismo Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: J Neurol Sci Año: 2014 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Adenosina Trifosfatasas / Hermanos / Mosaicismo Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: J Neurol Sci Año: 2014 Tipo del documento: Article País de afiliación: Alemania