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Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.
Daud, Shakeela; Kakar, Naseebullah; Goebel, Ingrid; Hashmi, Abu Saeed; Yaqub, Tahir; Nürnberg, Gudrun; Nürnberg, Peter; Morris-Rosendahl, Deborah J; Wasim, Muhammad; Volk, Alexander E; Kubisch, Christian; Ahmad, Jamil; Borck, Guntram.
  • Daud S; a Institute of Biochemistry and Biotechnology (IBBt), UVAS , Lahore , Pakistan .
  • Kakar N; b Institute of Human Genetics, University of Ulm , Ulm , Germany .
  • Goebel I; c International Graduate School in Molecular Medicine Ulm, University of Ulm , Ulm , Germany .
  • Hashmi AS; d Department of Biotechnology and Informatics , BUITEMS , Quetta , Pakistan .
  • Yaqub T; b Institute of Human Genetics, University of Ulm , Ulm , Germany .
  • Nürnberg G; e Institute of Human Genetics, University Medical Center Hamburg-Eppendorf , Hamburg , Germany .
  • Nürnberg P; a Institute of Biochemistry and Biotechnology (IBBt), UVAS , Lahore , Pakistan .
  • Morris-Rosendahl DJ; a Institute of Biochemistry and Biotechnology (IBBt), UVAS , Lahore , Pakistan .
  • Wasim M; f Department of Microbiology , UVAS , Lahore , Pakistan .
  • Volk AE; g Cologne Center for Genomics (CCG), University of Cologne , Cologne , Germany .
  • Kubisch C; g Cologne Center for Genomics (CCG), University of Cologne , Cologne , Germany .
  • Ahmad J; h Center for Molecular Medicine Cologne (CMMC), University of Cologne , Cologne , Germany .
  • Borck G; i Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne , Cologne , Germany .
Amyotroph Lateral Scler Frontotemporal Degener ; 17(3-4): 260-5, 2016.
Article en En | MEDLINE | ID: mdl-26751646
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Predisposición Genética a la Enfermedad / Factores de Intercambio de Guanina Nucleótido / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male País como asunto: Asia Idioma: En Año: 2016 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Predisposición Genética a la Enfermedad / Factores de Intercambio de Guanina Nucleótido / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male País como asunto: Asia Idioma: En Año: 2016 Tipo del documento: Article