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Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.
Rudnik-Schöneborn, Sabine; Deden, Florian; Eggermann, Katja; Eggermann, Thomas; Wieczorek, Dagmar; Sellhaus, Bernd; Yamoah, Alfred; Goswami, Anand; Claeys, Kristl G; Weis, Joachim; Zerres, Klaus.
Afiliação
  • Rudnik-Schöneborn S; Institute of Human Genetics, Uniklinik RWTH Aachen, Aachen, Germany.
  • Deden F; Division of Human Genetics, Medical University Innsbruck, Peter-Mayr-Strasse 1, 6020, Innsbruck, Austria.
  • Eggermann K; Institute of Human Genetics, Uniklinik RWTH Aachen, Aachen, Germany.
  • Eggermann T; Institute of Human Genetics, Uniklinik RWTH Aachen, Aachen, Germany.
  • Wieczorek D; Institute of Human Genetics, Uniklinik RWTH Aachen, Aachen, Germany.
  • Sellhaus B; Institute of Human Genetics, University of Essen, Essen, Germany.
  • Yamoah A; Institute of Neuropathology, Uniklinik RWTH Aachen, Aachen, Germany.
  • Goswami A; Institute of Neuropathology, Uniklinik RWTH Aachen, Aachen, Germany.
  • Claeys KG; Institute of Neuropathology, Uniklinik RWTH Aachen, Aachen, Germany.
  • Weis J; Institute of Neuropathology, Uniklinik RWTH Aachen, Aachen, Germany.
  • Zerres K; Department of Neurology, Uniklinik RWTH Aachen, Aachen, Germany.
Muscle Nerve ; 54(3): 496-500, 2016 09.
Article em En | MEDLINE | ID: mdl-26998597
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Extremidade Inferior / Genes Dominantes / Proteínas Associadas aos Microtúbulos / Mutação Tipo de estudo: Prognostic_studies Limite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Muscle Nerve Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Extremidade Inferior / Genes Dominantes / Proteínas Associadas aos Microtúbulos / Mutação Tipo de estudo: Prognostic_studies Limite: Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Muscle Nerve Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha