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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
Donkervoort, Sandra; Krause, Niklas; Dergai, Mykola; Yun, Pomi; Koliwer, Judith; Gorokhova, Svetlana; Geist Hauserman, Janelle; Cummings, Beryl B; Hu, Ying; Smith, Rosemarie; Uapinyoying, Prech; Ganesh, Vijay S; Ghosh, Partha S; Monaghan, Kristin G; Edassery, Seby L; Ferle, Pia E; Silverstein, Sarah; Chao, Katherine R; Snyder, Molly; Ellingwood, Sara; Bharucha-Goebel, Diana; Iannaccone, Susan T; Dal Peraro, Matteo; Foley, A Reghan; Savas, Jeffrey N; Bolduc, Véronique; Fasshauer, Dirk; Bönnemann, Carsten G; Schwake, Michael.
Afiliação
  • Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Krause N; Biochemistry III/Faculty of Chemistry, Bielefeld University, Bielefeld, Germany.
  • Dergai M; Department of Fundamental Neurosciences, University of Lausanne, Lausanne, Switzerland.
  • Yun P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Koliwer J; Biochemistry III/Faculty of Chemistry, Bielefeld University, Bielefeld, Germany.
  • Gorokhova S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Geist Hauserman J; Service de Génétique Médicale, Hôpital de la Timone, APHM, Marseille, France.
  • Cummings BB; INSERM, U1251-MMG, Aix-Marseille Université, Marseille, France.
  • Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Smith R; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Uapinyoying P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Ganesh VS; Maine Medical Center, Portland, ME, USA.
  • Ghosh PS; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Monaghan KG; Research for Genetic Medicine, Children's National Medical Center, Washington, DC, USA.
  • Edassery SL; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Ferle PE; Department of Neurology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA, USA.
  • Silverstein S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
  • Chao KR; GeneDx, Gaithersburg, MD, USA.
  • Snyder M; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
  • Ellingwood S; Biochemistry III/Faculty of Chemistry, Bielefeld University, Bielefeld, Germany.
  • Bharucha-Goebel D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Iannaccone ST; Rutgers New Jersey School of Medicine, Newark, NJ, USA.
  • Dal Peraro M; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institute of Health, Bethesda, MD, USA.
  • Foley AR; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Savas JN; Department of Neurology, Children's Health, Dallas, TX, USA.
  • Bolduc V; Maine Medical Center, Portland, ME, USA.
  • Fasshauer D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Bönnemann CG; Division of Neurology, Children's National Medical Center, Washington, DC, USA.
  • Schwake M; Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA.
EMBO Mol Med ; 13(12): e13787, 2021 12 07.
Article em En | MEDLINE | ID: mdl-34779586
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Proteínas Qc-SNARE / Distrofias Musculares Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: EMBO Mol Med Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Proteínas Qc-SNARE / Distrofias Musculares Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: EMBO Mol Med Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos