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A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
Helbig, Katherine L; Hedrich, Ulrike B S; Shinde, Deepali N; Krey, Ilona; Teichmann, Anne-Christin; Hentschel, Julia; Schubert, Julian; Chamberlin, Adam C; Huether, Robert; Lu, Hsiao-Mei; Alcaraz, Wendy A; Tang, Sha; Jungbluth, Chelsy; Dugan, Sarah L; Vainionpää, Leena; Karle, Kathrin N; Synofzik, Matthis; Schöls, Ludger; Schüle, Rebecca; Lehesjoki, Anna-Elina; Helbig, Ingo; Lerche, Holger; Lemke, Johannes R.
Afiliação
  • Helbig KL; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA.
  • Hedrich UB; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Shinde DN; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA.
  • Krey I; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
  • Teichmann AC; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
  • Hentschel J; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
  • Schubert J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Chamberlin AC; Department of Bioinformatics, Ambry Genetics, Aliso Viejo, CA.
  • Huether R; Department of Bioinformatics, Ambry Genetics, Aliso Viejo, CA.
  • Lu HM; Department of Bioinformatics, Ambry Genetics, Aliso Viejo, CA.
  • Alcaraz WA; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA.
  • Tang S; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA.
  • Jungbluth C; Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN.
  • Dugan SL; Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN.
  • Vainionpää L; Division of Medical Genetics, University of Utah, Salt Lake City, UT.
  • Karle KN; Department of Pediatrics and Adolescence, Oulu University Hospital, PEDEGO Research Unit, University of Oulu, Oulu, Finland.
  • Synofzik M; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Schöls L; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Schüle R; Department of Psychiatry and Psychotherapy, University of Tübingen, Tübingen, Germany.
  • Lehesjoki AE; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Helbig I; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Lerche H; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Lemke JR; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Ann Neurol ; 80(4)2016 10.
Article em En | MEDLINE | ID: mdl-27543892
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Paraplegia Espástica Hereditária / Canal de Potássio Kv1.2 / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Paraplegia Espástica Hereditária / Canal de Potássio Kv1.2 / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Canadá