المؤلفون: Marie Rivera-Zengotita, Alison M. Barnard, Sanna Puusepp, Anna Łusakowska, Ros Quinlivan, Margherita Milone, Isabelle Draper, Katherine R. Chao, Erica L. Macke, Mait Nigul, Teepu Siddique, Vijay S. Ganesh, Sander Pajusalu, Nicolas Deconinck, Sanna Gudmundsson, Masashi Ogasawara, Sandra Donkervoort, Christine C. Bruels, Glenn A. Walter, Ehsan Ghayoor Karimiani, Christina A. Pacak, Reza Maroofian, Sabine Costagliola, Julia K. Goodrich, Anne H. O’Donnell-Luria, Mehran Beiraghi Toosi, Sandra Coppens, Yao Meng, Lynn Pais, Henry Houlden, Eleina M. England, Rasha El Sherif, Anne Boland-Auge, Bertold Schrank, Volker Straub, Gisèle Bonne, Catheline Vilain, Payam Mohassel, Tanya Stojkovic, Isabelle Nelson, Ichizo Nishino, Stefan Nicolau, Anna Kostera-Pruszczyk, Ben Weisburd, Jean-François Deleuze, Enzo Cohen, Michael G. Hanna, Hazim Kadhim, Peter B. Kang, Dorianmarie Vargas-Franco, Penny A. Handford, Katrin Õunap, Pilvi Ilves, Ana Töpf, Carsten G. Bönnemann, Brendan C. Lanpher, Eric W. Klee, Andreas Hahn

المصدر: The American Journal of Human Genetics
Am J Hum Genet

مصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, Muscular Dystrophies, Myoblasts, Mice, 0302 clinical medicine, Drosophila Proteins, Muscular dystrophy, Child, Genetics (clinical), Genetics, Receptors, Notch, Myogenesis, Muscles, Middle Aged, Pedigree, Drosophila melanogaster, Phenotype, medicine.anatomical_structure, Glucosyltransferases, Child, Preschool, Female, Jagged-2 Protein, medicine.symptom, Signal Transduction, Adult, JAG2, JAG1, Adolescent, Notch signaling pathway, Biology, Article, Cell Line, Frameshift mutation, Young Adult, 03 medical and health sciences, Exome Sequencing, medicine, Animals, Humans, Amino Acid Sequence, Correction, Membrane Proteins, Muscle weakness, Skeletal muscle, medicine.disease, Human genetics, 030104 developmental biology, Haplotypes, Jagged-1 Protein, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de5cf77949f159f13e3db961570ab30bTest
https://doi.org/10.1016/j.ajhg.2021.03.020Test

المؤلفون: Ewa Zalewska, Elzbieta Szmidt-Salkowska, Malgorzata Gawel, Anna Kostera-Pruszczyk, Marta Lipowska, Anna Kamińska

المصدر: Journal of Electromyography and Kinesiology. 26:60-65

مصطلحات موضوعية: Adult, Male, Recruitment, Neurophysiological, 0301 basic medicine, medicine.medical_specialty, Biophysics, Neuroscience (miscellaneous), Action Potentials, Electromyography, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Abducens Nerve, medicine, Humans, Motor unit number estimation, Muscle Strength, Amyotrophic lateral sclerosis, Muscle, Skeletal, Abducens nerve, Aged, Aged, 80 and over, Motor Neurons, Denervation, medicine.diagnostic_test, Foot, business.industry, Amyotrophic Lateral Sclerosis, Middle Aged, medicine.disease, Motor unit, 030104 developmental biology, medicine.anatomical_structure, Physical therapy, Muscle strength, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Reinnervation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d885bb1938455240b4d0d5ae5b440e78Test
https://doi.org/10.1016/j.jelekin.2015.11.001Test

المؤلفون: Anna Kostera-Pruszczyk, Elżbieta Jakubowska-Pietkiewicz, Maria Jędrzejowska

المصدر: Neuromuscular Disorders. 25:661-666

مصطلحات موضوعية: Male, Physical examination, Ubiquitin-Activating Enzymes, Fractures, Bone, Tongue, medicine, Humans, Genetics (clinical), Arthrogryposis, medicine.diagnostic_test, business.industry, Infant, Newborn, Facial weakness, Muscle weakness, Genetic Diseases, X-Linked, UBA1, Anatomy, Spinal muscular atrophy, medicine.disease, Hypotonia, medicine.anatomical_structure, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fed047523e52d62ba61f9809885cc8eTest
https://doi.org/10.1016/j.nmd.2015.05.001Test

المؤلفون: Elzbieta Szmidt-Salkowska, Marta Lipowska, Anna Kostera-Pruszczyk, Ewa Zalewska, Gawel Malgorzata, Anna Kamińska

المصدر: Clinical Neurophysiology. 128:e288

مصطلحات موضوعية: Dorsum, Denervation, medicine.medical_specialty, business.industry, medicine.disease, Sensory Systems, Motor unit, medicine.anatomical_structure, Physical medicine and rehabilitation, Neurology, Physiology (medical), Muscle dysfunction, Medicine, Motor unit number estimation, In patient, Neurology (clinical), Amyotrophic lateral sclerosis, business, Reinnervation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::45973ff33db622c4a8a0311cc8ada190Test
https://doi.org/10.1016/j.clinph.2017.07.348Test

المؤلفون: Anna Fidziańska, Pascal Richard, Ana Ferreiro, Bertrand Goudeau, Stéphanie Simon, Anna Kostera-Pruszczyk, Patrick Vicart

المصدر: Neuromuscular Disorders. 16:759-762

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Muscle Proteins, Biology, Cataract, Desmin, LMNA, Myofibrils, medicine, Humans, Myotilin, Connectin, Child, Muscle, Skeletal, Selenoproteins, Myopathy, Genetics (clinical), Hyaline, Genetics, Microfilament Proteins, alpha-Crystallin B Chain, Skeletal muscle, Lamin Type A, musculoskeletal system, medicine.disease, Congenital myopathy, Cytoskeletal Proteins, Polydactyly, Phenotype, medicine.anatomical_structure, Neurology, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Syndactyly, sense organs, Neurology (clinical), medicine.symptom, Dystrophin, Myopathies, Structural, Congenital

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af0b5eaf2e7c7ec88d17067d2a22d51Test
https://doi.org/10.1016/j.nmd.2006.07.025Test

المؤلفون: Monika Nojszewska, Anna Kostera-Pruszczyk, Ewa Bartnik, Magdalena Kaliszewska, Anna Kamińska, Marek Gołębiowski, Katarzyna Tońska, Edyta Maj, T. Mazurczak

المصدر: Neuromuscular Disorders. 23:830

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Ataxia, medicine.diagnostic_test, business.industry, Cauda equina, Magnetic resonance imaging, medicine.disease, Surgery, Dysarthria, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Nerve conduction study, Medicine, Neurology (clinical), Ataxic Gait, medicine.symptom, business, Myoclonus, Polyneuropathy, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1e598e8de9c652d6cdbd3bc41dee3f3dTest
https://doi.org/10.1016/j.nmd.2013.06.663Test