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المؤلفون: Nicol C. Voermans, Sabrina Sacconi, Corinne G.C. Horlings, Jeffrey Statland, Karlien Mul, Rabi Tawil, Ingemar S. J. Merkies, Alastair Corbett, Catharina G. Faber, Tatiana Hamadeh, Baziel G.M. van Engelen
المساهمون: RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9)
المصدر: European Journal of Neurology, 28(7), 2339-2348. Wiley
European Journal of Neurology
European Journal of Neurology, 28, 7, pp. 2339-2348
European Journal of Neurology, 28, 2339-2348مصطلحات موضوعية: validity, DISEASE, Muscle and MNJ Disorders, Disability Evaluation, 0302 clinical medicine, Quality of life, QUALITY-OF-LIFE, Surveys and Questionnaires, Facioscapulohumeral muscular dystrophy, 030212 general & internal medicine, Reliability (statistics), EXAMPLE, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], CLINICAL-TRIAL PREPAREDNESS, Muscular Dystrophy, Facioscapulohumeral, Neurology, NATIONAL REGISTRY, Scale (social sciences), Cohort, Original Article, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, ENMC INTERNATIONAL WORKSHOP, 03 medical and health sciences, ORDINAL SCALES, medicine, Humans, Disabled Persons, DRUG DEVELOPMENT, FSHD, reliability, Rasch model, business.industry, Reproducibility of Results, facioscapulohumeral dystrophy, Rasch‐built disability scale, OUTCOME MEASURES, Interval Scale, medicine.disease, built disability scale, Differential item functioning, MEASUREMENT MODEL, Physical therapy, outcome research, Rasch‐, Neurology (clinical), activity and participation, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18bb6fe479b9af87aad2f06a538fba60Test
https://doi.org/10.1111/ene.14863Test -
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المؤلفون: Michael Bindschadler, Stephen J. Tapscott, Seth D. Friedman, Laura M. Johnstone, Leo H. Wang
المصدر: BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-7 (2021)
BMC Musculoskeletal Disordersمصطلحات موضوعية: Male, medicine.medical_specialty, lcsh:Diseases of the musculoskeletal system, Sports medicine, Urology, Outcome measures, Tacrolimus, Facioscapulohumeral muscular dystrophy (FSHD), 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Prednisone, Internal medicine, Outcome Assessment, Health Care, Case report, medicine, Facioscapulohumeral muscular dystrophy, Humans, Orthopedics and Sports Medicine, Muscle, Skeletal, Muscle disease, 030203 arthritis & rheumatology, business.industry, digestive, oral, and skin physiology, Skeletal muscle, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Hyperintensity, Muscular Dystrophy, Facioscapulohumeral, medicine.anatomical_structure, Orthopedic surgery, lcsh:RC925-935, business, 030217 neurology & neurosurgery, medicine.drug, All neuromuscular disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::626c349241be4c1f8a5c76759be1c614Test
https://doaj.org/article/519fc0c87b7045eaa80ac1ba077301ffTest -
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المؤلفون: Xinning Li, Andrew B. Stein, Tony Tannoury, Robert L. Parisien, Joanne Zhang
المصدر: JSES International, Vol 4, Iss 3, Pp 485-490 (2020)
JSES Internationalمصطلحات موضوعية: muscular dystrophy, medicine.medical_specialty, FSHD, lcsh:Diseases of the musculoskeletal system, business.industry, shoulder, MEDLINE, medicine.disease, team approach, lcsh:RD701-811, Physical medicine and rehabilitation, Facioscapulohumeral muscular dystrophy, lcsh:Orthopedic surgery, Medicine, genetics, Orthopedics and Sports Medicine, Surgery, Muscular dystrophy, lcsh:RC925-935, business, multidisciplinary
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80b2ebbd916f421cbbb86bc8b38bf83fTest
http://www.sciencedirect.com/science/article/pii/S2666638320300748Test -
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المؤلفون: Anand Pandyan, Fraser Philp, Tracey Willis, Alice Faux-Nightingale, R. Kulshrestha, N. Emery
المصدر: Archives of Rehabilitation Research and Clinical Translation, Vol 3, Iss 4, Pp 100157-(2021)
Archives of Rehabilitation Research and Clinical Translation
Archives of rehabilitation research and clinical translationمصطلحات موضوعية: musculoskeletal diseases, Questionnaires, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Medicine (General), Upper extremity, UK, United Kingdom, medicine.medical_treatment, Psychological intervention, Computer-assisted web interviewing, Surveys, R5-920, medicine, Facioscapulohumeral muscular dystrophy, Exercise, Original Research, Response rate (survey), Joint instability, Muscular dystrophies, Rehabilitation, Modalities, FSHD, facioscapulohumeral muscular dystrophy, business.industry, General Medicine, medicine.disease, nervous system diseases, medicine.anatomical_structure, Physical therapy, Upper limb, Patient participation, Exercise prescription, business, MRI, magnetic resonance imaging
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcb1a637027cc8555d99c4a2d2680c50Test
http://www.sciencedirect.com/science/article/pii/S2590109521000719Test -
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المؤلفون: Mauro Monforte, Maria Rosaria Bagnato, Pierfrancesco Ottaviani, Giorgio Tasca, Francesco Laschena, Enzo Ricci, Anna Pichiecchio
المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 10, Iss 6, Pp 1258-1265 (2019)
Journal of Cachexia, Sarcopenia and Muscleمصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Disease, Muscle wasting, 0302 clinical medicine, Facioscapulohumeral muscular dystrophy, Orthopedics and Sports Medicine, Longitudinal Studies, Prospective Studies, Wasting, Qualitative Research, medicine.diagnostic_test, lcsh:Human anatomy, Middle Aged, Prognosis, Magnetic Resonance Imaging, Muscular Dystrophy, Facioscapulohumeral, Settore MED/26 - NEUROLOGIA, Biomarkers, FSHD, Muscle MRI, STIR hyperintensity, 030220 oncology & carcinogenesis, Disease Progression, Original Article, Female, Radiology, medicine.symptom, Adult, medicine.medical_specialty, lcsh:QM1-695, Lesion, 03 medical and health sciences, Young Adult, Physiology (medical), medicine, Humans, Aged, business.industry, Wasting Syndrome, Magnetic resonance imaging, Odds ratio, Original Articles, medicine.disease, Confidence interval, Clinical trial, 030104 developmental biology, lcsh:RC925-935, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff093bfd6b947f918296662b3b778650Test
https://doaj.org/article/beef9abaa7c646c8a2472f78177458c2Test -
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المؤلفون: Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem, Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague, J. Andoni Urtizberea
المساهمون: Human Genetics Department [LAU Gilbert and Rose-Marie Chagoury School of Medicine], Gilbert and Rose-Marie Chagoury School of Medicine [Lebanese American University], Lebanese American University (LAU)-Lebanese American University (LAU), Institut Jérôme Lejeune, Centre for Arab Genomic Studies (CAGS), Hôtel-Dieu de France (HDF), Université Saint-Joseph de Beyrouth (USJ), Saint George Hospital University Medical Center [UOB LIBAN], University of Balamand [Liban] (UOB), Lebanese University [Beirut] (LU), Lebanese American University (LAU), Neuropediatrics Department [Beirut, Lebanon], Rafic Hariri University Hospital [Beirut, Lebanon], Department of Neurology, Lebanese University Hospital-Geitaoui, Department of Laboratory Science and Technology, American University of Science and Technology (AUST), Institut de génétique humaine (IGH), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone [CHU - APHM] (TIMONE), Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), Gestionnaire, Hal Sorbonne Université
المصدر: Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, 2022, 9 (1), pp.193-210. ⟨10.3233/JND-210652⟩مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Population, Disease, [SDV.GEN] Life Sciences [q-bio]/Genetics, Muscular Dystrophies, Muscular Atrophy, Spinal, Young Adult, Charcot-Marie-Tooth Disease, DMD, medicine, Genetics, Humans, SMA, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Muscular dystrophy, Lebanon, Motor Neuron Disease, education, Child, Retrospective Studies, education.field_of_study, FSHD, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Incidence (epidemiology), CMT, Infant, Spinal muscular atrophy, Middle Aged, medicine.disease, LGMD, Muscular Dystrophy, Duchenne, Neurology, Muscular Dystrophies, Limb-Girdle, Child, Preschool, Cohort, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Neurology (clinical), neuromuscular, business, Cohort study, Limb-girdle muscular dystrophy
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57ef5fc9d8231e08324d8b33ef984239Test
https://pubmed.ncbi.nlm.nih.gov/34602496Test -
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المؤلفون: Allison Ducharme-Smith, Stefan Nicolau, C. Anwar A. Chahal, Kirstie Ducharme-Smith, Shujah Rehman, Keerthi Jaliparthy, Nadeem Khan, Christopher G. Scott, Erik K. St Louis, Teerin Liewluck, Virend K. Somers, Grace Lin, Peter A. Brady, Margherita Milone
المصدر: Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurologyمصطلحات موضوعية: medicine.medical_specialty, conduction, arrhythima, Bifascicular block, Internal medicine, medicine, Facioscapulohumeral muscular dystrophy, Mitral valve prolapse, RC346-429, Original Research, FSHD, Ejection fraction, business.industry, Atrial fibrillation, facioscapulohumeral dystrophy, Right bundle branch block, medicine.disease, Neurology, Cardiology, cardiovascular system, Neurology (clinical), Neurology. Diseases of the nervous system, Left anterior fascicular block, business, mitral valve prolapse, Atrioventricular block
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0e7d08d66dfec35c038d25a9bce25a3Test
https://www.frontiersin.org/articles/10.3389/fneur.2021.668180/fullTest -
8A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy
المؤلفون: Richard J.L.F. Lemmers, Oebele F. Brouwer, Nicol C. Voermans, Baziel G.M. van Engelen, George W. Padberg, Corrie E. Erasmus, Karlien Mul, Caroline R. van Kernebeek, Rianne J.M. Goselink, Silvère M. van der Maarel
المصدر: European Journal of Paediatric Neurology, 22(5), 782-785. ELSEVIER SCI LTD
European Journal of Paediatric Neurology, 22, 5, pp. 782-785
European Journal of Paediatric Neurology, 22, 782-785مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Infantile FSHD, Adolescent, Hearing loss, Natural history, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Physical examination, Facioscapulohumeral dystrophy, DIAGNOSIS, 03 medical and health sciences, 0302 clinical medicine, Wheelchair, Intellectual disability, Medicine, Humans, Age of Onset, Variable disease severity, medicine.diagnostic_test, business.industry, Dystrophy, Early-onset FSHD, General Medicine, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, MUSCULAR-DYSTROPHY, Muscular Dystrophy, Facioscapulohumeral, Clinical trial, 030104 developmental biology, Phenotype, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Neuromuscular disorders, Follow-Up Studies
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca33a22fb1b90995a41c02f559f9f78cTest
https://doi.org/10.1016/j.ejpn.2018.04.013Test -
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المؤلفون: Sonia Bergamaschi, Cinzia Bettio, Luca Magnotta, June Kinoshita, Enrico Calanchi, Luca Gagliardelli, Rossella Tupler, Mirko Orsini, Valentina Salsi
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)مصطلحات موضوعية: medicine.medical_specialty, Facioscapulohumeral, Genetic counseling, Data management, Disease, Rare disease registry, Data collection, Data integration, FSHD, Rare diseases, Delivery of Health Care, Humans, Italy, Precision Medicine, Rare Diseases, Muscular Dystrophy, Facioscapulohumeral, Registries, computer.software_genre, Health care, Medicine, Pharmacology (medical), Medical physics, Muscular Dystrophy, Genetics (clinical), business.industry, Research, General Medicine, Precision medicine, Analytics, business, computer
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42765fec0243c6fcc8ec1e2c20932cf6Test
https://pubmed.ncbi.nlm.nih.gov/34736505Test -
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المؤلفون: Patrick J. van der Vliet, Baziel G.M. van Engelen, George W. Padberg, Nicol C. Voermans, Silvère M. van der Maarel, Corinne G.C. Horlings, Marianne A. Jonker, Richard J.L.F. Lemmers, Karlien Mul
المصدر: Clinical Genetics, 94, 6, pp. 521-527
Clinical Genetics, 94, 521-527
Clinical Genetics, 94(6), 521-527مصطلحات موضوعية: Male, 0301 basic medicine, Penetrance, Severity of Illness Index, Gastroenterology, 0302 clinical medicine, Genotype, Facioscapulohumeral muscular dystrophy, Genetics (clinical), Aged, 80 and over, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Explained variation, Magnetic Resonance Imaging, Muscular Dystrophy, Facioscapulohumeral, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Facial muscles, Phenotype, medicine.anatomical_structure, facioscapulohumeral muscular dystrophy (FSHD), Female, Body region, Adult, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Locus (genetics), Young Adult, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, disease modifiers, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, Alleles, Genetic Association Studies, Aged, epigenetics, business.industry, medicine.disease, 030104 developmental biology, Haplotypes, business, Biomarkers, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9aaaff8ad1096fcdd3661a112405443Test
https://doi.org/10.1111/cge.13446Test
