Your browser doesn't support javascript.
loading
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.
Jahic, Amir; Khundadze, Mukhran; Jaenisch, Nadine; Schüle, Rebecca; Klimpe, Sven; Klebe, Stephan; Frahm, Christiane; Kassubek, Jan; Stevanin, Giovanni; Schöls, Ludger; Brice, Alexis; Hübner, Christian A; Beetz, Christian.
Afiliação
  • Jahic A; Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany.
  • Khundadze M; Institute of Human Genetics, Jena University Hospital, Jena, Germany.
  • Jaenisch N; Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany.
  • Schüle R; Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tübingen, Tübingen, Germany.
  • Klimpe S; German Research Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Klebe S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miami, FL, USA.
  • Frahm C; Department of Neurology, University Medical Center of the Johannes-Gutenberg University Mainz, Mainz, Germany.
  • Kassubek J; Department of Neurology, University Hospital, Freiburg, Germany.
  • Stevanin G; Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany.
  • Schöls L; Department of Neurology, University of Ulm, Ulm, Germany.
  • Brice A; INSERM U1127, Sorbonne Universités, UPMC Univ Paris 06 UMR_S1127, CNRS UMR7225, EPHE, Institut du Cerveau et de la Moelle épinière, Paris, France.
  • Hübner CA; Hertie-Institute for Clinical Brain Research, Department of Neurodegenerative Diseases, University of Tübingen, Tübingen, Germany.
  • Beetz C; German Research Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Orphanet J Rare Dis ; 10: 147, 2015 Nov 16.
Article em En | MEDLINE | ID: mdl-26572744
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Proteínas / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Proteínas / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article