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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: Giuseppe Liistro, William Poncin, Gregory Reychler, Nicolas Audag, Michel Toussaint, Laure Vandervelde, Christophe Goubau, Peter Van den Bergh
المساهمون: UCL - SSS/IREC/PNEU - Pôle de Pneumologie, ORL et Dermatologie, UCL - (SLuc) Département de pédiatrie, UCL - (SLuc) Service de pneumologie
المصدر: Muscle & nerve, Vol. 64, no.3, p. 277-284 (2021)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Physiology, neuromuscular diseases, 030105 genetics & heredity, Myotonic dystrophy, Severity of Illness Index, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), Internal medicine, Surveys and Questionnaires, medicine, otorhinolaryngologic diseases, Humans, Mass Screening, In patient, Amyotrophic lateral sclerosis, Adult patients, business.industry, Medical record, screening, Sydney Swallow Questionnaire, Neuromuscular Diseases, Middle Aged, medicine.disease, Sydney swallow questionnaire, Dysphagia, oropharyngeal dysphagia, Deglutition, Female, Neurology (clinical), medicine.symptom, business, Deglutition Disorders, 030217 neurology & neurosurgery, Oropharyngeal dysphagia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ecc095dbbc63fbabac183840085373dTest
https://hdl.handle.net/2078.1/260933Test -
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المؤلفون: Aude-Marie Grapperon, Guillaume Nicolas, Peter Van den Bergh, John L. Woodard, Jean-Marc Raymackers, Claure Michel, F Piéret, Yusuf A. Rajabally, Shahram Attarian, Emilien Delmont, P. Jacquerye, Marion Brisset, Céline Redant, Vinciane Van Parijs, Julien Cassereau, Donatienne Verougstraete
المصدر: Muscle & Nerve. 58:23-28
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Disease onset, Guillain-Barre syndrome, Physiology, business.industry, Polyradiculoneuropathy, medicine.disease, Acute motor axonal neuropathy, Pathophysiology, 3. Good health, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, Muscle nerve, Electrodiagnostic testing, Physiology (medical), Medicine, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::32de6d18d33b753e63b6973bc50042b4Test
https://doi.org/10.1002/mus.26056Test -
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المؤلفون: Peter Van den Bergh, Vincent Van Pesch, Nicolas Dubuisson
المصدر: Muscle & Nerve. 56:828-832
مصطلحات موضوعية: Physiology, Elbow, Electromyography, Fasciculation, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), medicine, Humans, 030212 general & internal medicine, medicine.diagnostic_test, business.industry, Neuromuscular Diseases, Motor conduction block, Middle Aged, medicine.disease, Median Nerve, body regions, Axilla, medicine.anatomical_structure, Cramp fasciculation syndrome, Anesthesia, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Multifocal motor neuropathy, Thenar eminence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::153303633a7beed216344e5ad578df7bTest
https://doi.org/10.1002/mus.25528Test -
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المؤلفون: Luc Kevers, Philippe Hantson, Peter Van den Bergh, Nicole Fabien
المصدر: Muscle & Nerve. 41:423-426
مصطلحات موضوعية: medicine.medical_specialty, Lupus erythematosus, Guillain-Barre syndrome, Physiology, business.industry, Respiratory disease, Dysautonomia, Polyradiculoneuropathy, Chronic inflammatory demyelinating polyneuropathy, medicine.disease, Connective tissue disease, Gastroenterology, Cellular and Molecular Neuroscience, Respiratory failure, Physiology (medical), Internal medicine, Immunology, medicine, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9adb59da41213979d2ad5b4391765925Test
https://doi.org/10.1002/mus.21543Test -
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المؤلفون: Peter Van den Bergh, F Piéret
المصدر: Muscle & Nerve. 29:565-574
مصطلحات موضوعية: medicine.medical_specialty, Guillain-Barre syndrome, Electrodiagnosis, medicine.diagnostic_test, Physiology, business.industry, Polyradiculoneuropathy, medicine.disease, Surgery, Central nervous system disease, Cellular and Molecular Neuroscience, Degenerative disease, Physiology (medical), Diabetes mellitus, Internal medicine, medicine, Neurology (clinical), Amyotrophic lateral sclerosis, business, Polyneuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a60226b366acf1147ef7a47aab347727Test
https://doi.org/10.1002/mus.20022Test -
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المصدر: Muscle & Nerve. 23:283-288
مصطلحات موضوعية: medicine.medical_specialty, medicine.diagnostic_test, Physiology, business.industry, Magnetic resonance imaging, Polyradiculoneuropathy, Treatment results, medicine.disease, Surgery, Muscle hypertrophy, body regions, Cellular and Molecular Neuroscience, medicine.anatomical_structure, Physiology (medical), Anesthesia, medicine, Demyelinating neuropathy, Upper limb, Neurology (clinical), business, Brachial plexus, Brachial Plexus Neuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1d94fd66b38ba824fd349cbb5a9fed30Test
https://doi.org/10.1002Test/(sici)1097-4598(200002)23:2<283::aid-mus23>3.0.co;2-q -
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المؤلفون: Peter Van den Bergh, Philippe Hantson, Luc Kevers, Nicole Fabien
المصدر: Muscle & Nerve. 44:611-611
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Physiology, Physiology (medical), Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0bbeff00457ff3dabf6b0a4ee69ab152Test
https://doi.org/10.1002/mus.22128Test -
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المؤلفون: Peter Van den Bergh, Philippe Hantson, Luc Kevers, Nicole Fabien
المصدر: Muscle & Nerve. 44:612-612
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Physiology, Physiology (medical), Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f0495c256a8d22cb8b32a063c413a8bbTest
https://doi.org/10.1002/mus.22197Test -
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المصدر: Musclenerve. 13(8)
مصطلحات موضوعية: Neuralgic amyotrophy, Male, Accessory nerve, Physiology, business.industry, Muscles, Cranial nerves, Mononeuropathy Multiplex, Neural Conduction, Anatomy, Cranial neuropathy, Middle Aged, Cranial Nerve Diseases, Vagus nerve, Electrophysiology, Cellular and Molecular Neuroscience, Physiology (medical), Medicine, Brachial Plexus Neuritis, Humans, Brachial Plexus, Neurology (clinical), business, Brachial plexus, Hypoglossal nerve
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76768c120165d94717b58bce452901f1Test
https://pubmed.ncbi.nlm.nih.gov/2385255Test