نتائج البحث - "Kanokwan Boonyapisit"

المساهمون: National Institute of Neurological Disorders and Stroke [Bethesda] (NINDS), National Institutes of Health [Bethesda] (NIH), University of Cologne, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire [Grenoble] (CHU), [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Antwerp (UA), Mahidol University [Bangkok], University College of London [London] (UCL), Newcastle University [Newcastle], Amsterdam UMC - Amsterdam University Medical Center, Northwestern University Feinberg School of Medicine, Hospital Nacional de Pediatría J.P. Garrahan, Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Hôpital Raymond Poincaré [AP-HP], National Center of Neurology and Psychiatry, University of Gothenburg (GU), National Center of Neurology and Psychiatry [Tokyo, Japan], University of Messina, Università degli studi di Genova = University of Genoa (UniGe), International Institute of Molecular and Cell Biology [Warsaw] (IIMCB), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), University of Arizona, univOAK, Archive ouverte, Physiology, ACS - Pulmonary hypertension & thrombosis

المصدر: The American journal of human genetics
Am J Hum Genet
Donkervoort, S, Kutzner, C E, Hu, Y, Lornage, X, Rendu, J, Stojkovic, T, Baets, J, Neuhaus, S B, Tanboon, J, Maroofian, R, Bolduc, V, Mroczek, M, Conijn, S, Kuntz, N L, Töpf, A, Monges, S, Lubieniecki, F, McCarty, R M, Chao, K R, Governali, S, Böhm, J, Boonyapisit, K, Malfatti, E, Sangruchi, T, Horkayne-Szakaly, I, Hedberg-Oldfors, C, Efthymiou, S, Noguchi, S, Djeddi, S, Iida, A, di Rosa, G, Fiorillo, C, Salpietro, V, Darin, N, Fauré, J, Houlden, H, Oldfors, A, Nishino, I, de Ridder, W, Straub, V, Pokrzywa, W, Laporte, J, Foley, A R, Romero, N B, Ottenheijm, C, Hoppe, T & Bönnemann, C G 2020, ' Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores ', American journal of human genetics, vol. 107, no. 6, pp. 1078-1095 . https://doi.org/10.1016/j.ajhg.2020.11.002
American Journal of Human Genetics
American Journal of Human Genetics, 2020, 107 (6), pp.1078-1095. ⟨10.1016/j.ajhg.2020.11.002⟩
American journal of human genetics, 107(6), 1078-1095. Cell Press

مصطلحات موضوعية: 0301 basic medicine, Male, muscle, myosin, Sarcomere, Whole Exome Sequencing, 0302 clinical medicine, Myofibrils, Loss of Function Mutation, Myosin, Missense mutation, chaperone, Transgenes, Genetics (clinical), Caenorhabditis elegans, C. elegans, core myopathy, myofibrillar, sarcomere, UNC-45, UNC45B, Adolescent, Adult, Alleles, Animals, Caenorhabditis elegans Proteins, Female, Genetic Variation, Humans, Molecular Chaperones, Muscle, Skeletal, Muscular Diseases, Myosins, Sarcomeres, Sequence Analysis, RNA, Young Adult, Mutation, Missense, biology, Skeletal, Cell biology, Myosin binding, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, Sequence Analysis, macromolecular substances, Article, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Myopathy, fungi, biology.organism_classification, 030104 developmental biology, Chaperone (protein), Mutation, biology.protein, RNA, Human medicine, Missense, Myofibril, 030217 neurology & neurosurgery