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المؤلفون: Anna Sarkozy, Erik-Jan Kamsteeg, Mark Pfuhl, Nicol C. Voermans, Martin Rees, Corrie E. Erasmus, Hülya-Sevcan Daimagüler, Steven A. Moore, Rahul Phadke, Mark R. Holt, Rolf Schröder, Istvan Bodi, Carla Grosmann, Sebahattin Cirak, E. Matthews, Ay Lin Kho, Peter Van den Bergh, Christian Thiel, Shane McKee, Joel Victor Fluss, Roksana Nikoopour, Charu Deshpande, Jens Reimann, Emily C. Oates, Maria Elena Farrugia, Özkan Özdemir, Isabelle Richard, Cristina Domínguez-González, Chaminda Konersman, Ekkehard Wilichowski, Birgit Brandmeier, Atsushi Fukuzawa, Ana Ferreiro, Heinz Jungbluth, Ros Quinlivan, Sandya Tirupathi, Mathias Gautel, Gabriele Dekomien, Cheryl Longman, Miguel A Fernandez-Garcia, Francesco Muntoni, Michael G. Hanna, Elizabeth Wraige, Elke Hobbiebrunken, Sarah Grover
المساهمون: UCL - SSS/IONS - Institute of NeuroScience, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Centre de référence neuromusculaire, King‘s College London, Evelina London Children's Hospital, Guy's Hospital [London], University of Cologne, Children’s University Hospital of Geneva [Switzerland], Queen Elizabeth University Hospital (Glasgow), National Hospital for Neurology and Neurosurgery [London, UK], Great Ormond Street Hospital for Children [London] (GOSH), University College of London [London] (UCL), University of New South Wales [Sydney] (UNSW), Westmead Hospital [Sydney], University Hospital Erlangen [Germany], Universitätsklinikum Erlangen [Erlangen], University of Bonn Medical Centre [Bonn], Radboud university [Nijmegen], Rady Children's Hospital, Belfast City Hospital, Royal Belfast Hospital for Sick Children, University of Iowa [Iowa City], University of Göttingen - Georg-August-Universität Göttingen, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Généthon, Saint-Luc University Hospital [Brussels, Belgium], Hospital Universitario 12 de Octubre [Madrid], Université de Paris (UP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Charles Foix [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), King's College Hospital (KCH), MRC Centre for Neuromuscular Diseases [London, UK], University Hospital Erlangen = Uniklinikum Erlangen, Radboud University [Nijmegen], Radboud University Medical Center [Nijmegen], Gillette Children's Specialty Healthcare [St Paul], Georg-August-University = Georg-August-Universität Göttingen, Ruhr-Universität Bochum [Bochum], Université Paris Cité (UPCité), Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)
المصدر: Acta Neuropathologica, 141, 431-453
Acta Neuropathologica, Vol. 141, no. 3, p. 431-453 (2021)
Acta Neuropathologica, 141, 3, pp. 431-453
Acta Neuropathologica
Acta Neuropathologica, Springer Verlag, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
Acta Neuropathologica, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Weakness, Adolescent, Myotonia Congenita, Mutation, Missense, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Extraocular muscles, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Humans, Medicine, Missense mutation, Connectin, Child, Myopathy, Aged, Muscle contracture, Genetics, Phenocopy, Original Paper, biology, business.industry, Infant, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Congenital myopathy, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, biology.protein, Female, Titin, Neurology (clinical), medicine.symptom, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a50b0834b2069a16869cd3b6e7cc432fTest
http://hdl.handle.net/2066/231686Test -
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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: Caroline Sewry, Peter Van den Bergh, Francesco Muntoni, Corrado Angelini, Salla Ranta, Vilma Lotta Lehtokari, Kati Donner, Kate Bushby, Katarina Pelin, Susan T. Iannaccone, Nigel G. Laing, Carina Wallgren-Pettersson, Maria Sandbacka
المصدر: Human mutation. 27(9)
مصطلحات موضوعية: Male, Nonsense mutation, DNA Mutational Analysis, Muscle Proteins, Genes, Recessive, Biology, Compound heterozygosity, Myopathies, Nemaline, 03 medical and health sciences, Exon, Nebulin, 0302 clinical medicine, Tropomyosin binding, Nemaline myopathy, Genetics, medicine, Humans, Point Mutation, Frameshift Mutation, Genetics (clinical), Chromatography, High Pressure Liquid, 030304 developmental biology, 0303 health sciences, Point mutation, Exons, medicine.disease, Molecular biology, Exon skipping, Introns, 3. Good health, Codon, Nonsense, biology.protein, Female, RNA Splice Sites, 030217 neurology & neurosurgery, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35a256f7181c370426ab73d084036ea4Test
https://pubmed.ncbi.nlm.nih.gov/16917880Test -
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المؤلفون: Peter Hackman, Sylvie Marchand, Bjarne Udd, Peter Van den Bergh, Isabelle Richard, Olivier Bouquiaux, Christine Verellen
المصدر: Annals of neurology. 54(2)
مصطلحات موضوعية: Male, medicine.medical_specialty, DNA Mutational Analysis, Muscle Proteins, Locus (genetics), Biology, Asymptomatic, Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, Tibialis anterior muscle, Belgium, Internal medicine, medicine, Humans, Point Mutation, Connectin, Family, Muscular dystrophy, Myopathy, Muscle, Skeletal, Creatine Kinase, Gait Disorders, Neurologic, 030304 developmental biology, Subclinical infection, Aged, 0303 health sciences, Leg, Electromyography, Anatomy, DNA, Exons, Middle Aged, medicine.disease, Penetrance, Pedigree, stomatognathic diseases, Neurology, biology.protein, Titin, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed, human activities, Protein Kinases, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbb5d62d3982a7bd5711ab5ba1d94b92Test
https://pubmed.ncbi.nlm.nih.gov/12891679Test