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المؤلفون: Fabrice Michel, Cristina Domínguez-González, Gabriel Viennet, H. Orhan Akman, Johanna Nilsson, Carola Hedberg-Oldfors, Cornelia Kornblum, Aurelio Hernández-Laín, Salvatore DiMauro, Norma B. Romero, Peter Van den Bergh, Anders Oldfors, Andrew G. Engel, Edoardo Malfatti
المصدر: Annals of Neurology. 76:891-898
مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Glycogenin, Skeletal muscle, Biology, Compound heterozygosity, medicine.disease, 3. Good health, Glycogen debranching enzyme, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, medicine.anatomical_structure, Neurology, Internal medicine, medicine, biology.protein, Glycogen storage disease, Neurology (clinical), medicine.symptom, Myopathy, Glycogen synthase, GSK3B, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5cf0f6d180b7e5aae9952ad294fc083dTest
https://doi.org/10.1002/ana.24284Test -
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المؤلفون: Nuria Muelas, Zohar Argov, Juan J. Vílchez, Sini Penttilä, Volker Straub, Carsten Bonneman, Patricia G. Wheeler, Kathryn R. Wagner, Phillipa J. Lamont, Rebecca Gooding, Kym M. Boycott, Gerald F. Cox, Alan H. Beggs, Jahannaz Dastgir, Alexandru Barboi, Anne M. Connolly, David Hilton-Jones, E. Schmedding, Johanna Palmio, Elizabeth T. DeChene, NP Davies, Heinz Jungbluth, Tiina Suominen, Bjarne Udd, Kate Bushby, Peter Van den Bergh, William Wallefeld, Nigel G. Laing, Elizabeth Wraige, Christopher Staples
المساهمون: Neuroprotection & Neuromodulation
المصدر: Human mutation. 35(7)
مصطلحات موضوعية: Proband, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Child, preschool, Biopsy, DNA Mutational Analysis, Cardiomyopathy, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Myosin, Genetics, medicine, Missense mutation, Humans, Myopathy, Child, Muscle, Skeletal, Genetics (clinical), 030304 developmental biology, Aged, 0303 health sciences, Myosin Heavy Chains, Infant, Newborn, Skeletal muscle, Infant, Middle Aged, medicine.disease, Immunohistochemistry, 3. Good health, Distal Myopathies, medicine.anatomical_structure, Phenotype, young adult, MYH7, Female, medicine.symptom, mutation, Cardiac Myosins, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95d5f95eec553d1cc27eafb63d53104cTest
http://ora.ox.ac.uk/objects/uuid:95321b62-c413-45d4-81cd-c9728f1b6a5fTest -
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المؤلفون: David Chitayat, Judith Melki, Monkol Lek, Stefanie M. Novak, Leigh B. Waddell, Norma B. Romero, Edoardo Malfatti, Jérome Maluenda, Adele D'Amico, Peter J. Houweling, Stacey Gabriel, Livija Medne, Vandana Gupta, Eva Holmberg, Katarina Pelin, James J. Dowling, Carina Wallgren-Pettersson, Ann E. Davidson, Enrico Bertini, Nicole Martin, William R. Telfer, David S. Gokhin, Velia M. Fowler, Yukiko K. Hayashi, Namrata Gupta, Daniel G. MacArthur, Carsten G. Bönnemann, Brett Thomas, Nigel F. Clarke, Ichizo Nishino, Kathryn N. North, Christopher T. Pappas, Carol C. Gregorio, Nigel G. Laing, Lindsay C. Swanson, Catherine A. Brownstein, Darcée D. Sloboda, Pablo Lapunzina, Patrick Shannon, Kate G. R. Quinlan, Natalia Moroz, Coen A.C. Ottenheijm, Alla S. Kostyukova, Peter Van den Bergh, David P. Bick, Ozge Ceyhan-Birsoy, Sarah A. Sandaradura, Annie Laquerrière, Emily J. Todd, Vilma Lotta Lehtokari, Mark J. Daly, Biljana Ilkovski, Alan H. Beggs, Michaela Yuen, Anders Flisberg, Flora Nolent, Gianina Ravenscroft
المساهمون: Department of Medical and Clinical Genetics, Biosciences, Genetics, Faculty of Biological and Environmental Sciences, Haartman Institute (-2014), Physiology, ICaR - Heartfailure and pulmonary arterial hypertension
المصدر: Yuen, M, Sandaradura, S A, Dowling, J J, Kostyukova, A S, Moroz, N, Quinlan, K G, Lehtokari, V L, Ravenscroft, G, Todd, E J, Ceyhan-Birsoy, O, Gokhin, D S, Maluenda, J, Lek, M, Nolent, F, Pappas, C T, Novak, S M, D'Amico, A, Malfatti, E, Thomas, B P, Gabriel, S B, Gupta, N, Daly, M J, Ilkovski, B, Houweling, P J, Davidson, A E, Swanson, L C, Brownstein, C A, Gupta, V A, Medne, L, Shannon, P, Martin, N, Bick, D P, Flisberg, A, Holmberg, E, van den Bergh, P, Lapunzina, P, Waddell, L B, Sioboda, D D, Bertini, E, Chitayat, D, Telfer, W R, Laquerriere, A, Gregorio, C C, Ottenheijm, C A C, Bonnemann, C G, Pelin, K, Beggs, A H, Hayashi, Y K, Romero, N B, Laing, N G, Nishino, I, Wallgren-Pettersson, C, Melki, J, Fowler, V M, MacArthur, D G, North, K N & Clarke, N F 2014, ' Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy ', Journal of Clinical Investigation, vol. 124, no. 11, pp. 4693-4708 . https://doi.org/10.1172/JCI75199Test
Journal of Clinical Investigation, 124(11), 4693-4708. The American Society for Clinical Investigationمصطلحات موضوعية: Male, Pathology, DNA Mutational Analysis, Gene Expression, Muscle Proteins, TROPOMODULIN, Myopathies, Nemaline, 0302 clinical medicine, Nemaline myopathy, Myofibrils, LENGTH, Cells, Cultured, Zebrafish, 0303 health sciences, biology, Homozygote, Microfilament Proteins, Cardiac muscle, General Medicine, Cell biology, DEFICIENCY, POLYMERIZATION, medicine.anatomical_structure, Gene Knockdown Techniques, SKELETAL-MUSCLE, Female, Corrigendum, Tropomodulin, Research Article, POINTED-END, Heterozygote, medicine.medical_specialty, education, Mutation, Missense, Muscle disorder, ACTIN, 03 medical and health sciences, medicine, Animals, Humans, Genetic Predisposition to Disease, Muscle, Skeletal, Nemaline bodies, Genetic Association Studies, Actin, 030304 developmental biology, MUTATIONS, MUSCLE ALPHA-TROPOMYOSIN, Skeletal muscle, medicine.disease, Congenital myopathy, Actins, 3121 General medicine, internal medicine and other clinical medicine, N-TERMINUS, biology.protein, 3111 Biomedicine, Protein Multimerization, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59db3702ea8ec1b098d927c5634cb1caTest
https://research.vumc.nl/en/publications/3c042b02-2e92-4398-85b4-5ec89870e352Test -
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المؤلفون: Radim Mazanec, Nathalie Goemans, Albena Jordanova, H.-J. Christen, Christine Verellen, James R. Lupski, Jan De Bleecker, Paolo Vinci, Matthias Van Hul, Kristien Verhoeven, Rudy Van Coster, Els De Vriendt, Andrzej Kochański, Wim Robberecht, Jeffery M. Vance, Velina Guergueltcheva, Peter De Jonghe, Ian J. Butler, Gulam Mustafa Saifi, Peter Vieregge, Vedrana Milic Rasic, Filip Roelens, J. Michael Schröder, Eva Nelis, Chantal Ceuterick, Kristl Claeys, Pavel Seeman, Kinga Szigeti, Barbara Ryniewicz, Pedro Mancias, Stephan Züchner, Yoram Nevo, I. Tournev, Vincent Timmerman, María Teresa García Moreno, Michaela Auer-Grumbach, Joachim Weis, Peter Van den Bergh, Michael E. Shy
المصدر: Brain
مصطلحات موضوعية: Pathology, medicine.disease_cause, Severity of Illness Index, GTP Phosphohydrolases, 0302 clinical medicine, Degenerative disease, Charcot-Marie-Tooth Disease, Genotype, mitofusin 2, Age of Onset, Child, 0303 health sciences, Mutation, education.field_of_study, Middle Aged, Electrophysiology, medicine.anatomical_structure, Phenotype, Child, Preschool, Sensory nerve, Adult, medicine.medical_specialty, Adolescent, Population, Sural nerve, Biology, genotype-phenotype correlation, Mitochondrial Proteins, 03 medical and health sciences, Atrophy, atrophy, Sural Nerve, medicine, features, Humans, education, gene, 030304 developmental biology, Aged, Membrane Proteins, medicine.disease, charcot-marie-tooth type 2, mitofusin-2, Surgery, Microscopy, Electron, disease type-2, neuropathy, Neurology (clinical), Age of onset, 030217 neurology & neurosurgery
وصف الملف: Print-Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fbd19685d12f10b9f298f3ffdd049b5Test
https://pubmed.ncbi.nlm.nih.gov/16714318Test