BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
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| Title: | BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. |
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| Authors: | 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.; Service de Génétique Médicale, Hôpital de la Timone, APHM, Marseille, France.; INSERM, U1251-MMG, Aix-Marseille Université, Marseille, France., Geist Hauserman J; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Cummings BB; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., 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; Maine Medical Center, Portland, ME, USA., Uapinyoying P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Research for Genetic Medicine, Children's National Medical Center, Washington, DC, USA., Ganesh VS; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA, USA., Ghosh PS; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Monaghan KG; GeneDx, Gaithersburg, MD, USA., Edassery SL; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Ferle PE; Biochemistry III/Faculty of Chemistry, Bielefeld University, Bielefeld, Germany., Silverstein S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Rutgers New Jersey School of Medicine, Newark, NJ, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institute of Health, Bethesda, MD, USA., Chao KR; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Snyder M; Department of Neurology, Children's Health, Dallas, TX, USA., Ellingwood S; Maine Medical Center, Portland, ME, USA., Bharucha-Goebel D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Division of Neurology, Children's National Medical Center, Washington, DC, USA., Iannaccone ST; Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA., Dal Peraro M; Institute of Bioengineering, School of Life Sciences, École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Savas JN; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Fasshauer D; Department of Fundamental Neurosciences, University of Lausanne, Lausanne, Switzerland., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Schwake M; Biochemistry III/Faculty of Chemistry, Bielefeld University, Bielefeld, Germany.; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. |
| Source: | EMBO molecular medicine [EMBO Mol Med] 2021 Dec 07; Vol. 13 (12), pp. e13787. Date of Electronic Publication: 2021 Nov 15. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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