نتائج البحث

1

المصدر: Journal of Neuromuscular Diseases

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Review, Bioinformatics, outcome measures, 03 medical and health sciences, 0302 clinical medicine, DUX4, Humans, Medicine, Facioscapulohumeral muscular dystrophy, Muscle, Skeletal, Homeodomain Proteins, facioscapulohumeral dystrophy (FSHD), business.industry, Mechanism (biology), Outcome measures, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, nervous system diseases, Clinical trial, 030104 developmental biology, Muscle disease, Neurology, Drug development, Underlying disease, muscle disease, Neurology (clinical), business, 030217 neurology & neurosurgery, All neuromuscular disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31ec4b4e0889a0047e4f84df7bfc1646Test
https://doi.org/10.3233/jnd-200554Test

2

The facioscapulohumeral muscular dystrophy Rasch‐built overall disability scale (FSHD‐RODS)

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, 2339-2348

مصطلحات 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

3

Estradiol differentially regulates DUX4, β-catenin and PAX3/PAX7 in primary myoblasts of facioscapulohumeral muscular dystrophy patients

المؤلفون: Esin Guvenir Celik, Hilmi Uysal, Hacer Kaya, Sibel Berker Karauzum, Onur Eroglu, Ceren Hangul

المساهمون: Güvenir Çelik, Esin, Kaya, Hacer, Eroğlu, Onur

المصدر: Turkish Journal of Biochemistry. 46:435-444

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a11122fa0f6d9a40acff7acd1ad2d33Test
https://doi.org/10.1515/tjb-2020-0351Test

4

Adapting MRI as a clinical outcome measure for a facioscapulohumeral muscular dystrophy trial of prednisone and tacrolimus: case report

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 Disorders

مصطلحات 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

5

Analysis of genes regulated by DUX4 via oxidative stress reveals potential therapeutic targets for treatment of facioscapulohumeral dystrophy

المؤلفون: E. N. Popova, Anna Karpukhina, Ivan I. Galkin, Carla Dib, Olga Pletjushkina, Yinxing Ma, Roman A. Zinovkin, Boris V. Chernyak, Yegor S. Vassetzky

المساهمون: Aspects métaboliques et systémiques de l'oncogénèse pour de nouvelles approches thérapeutiques (METSY), Institut Gustave Roussy (IGR)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Koltzov Institute of Developmental Biology, the Russian Academy of Sciences [Moscow, Russia] (RAS), Lomonosov Moscow State University (MSU), Belozersky Institute of Physico-Chemical Biology

المصدر: Redox Biology, Vol 43, Iss, Pp 102008-(2021)
Redox Biology
Redox Biology, Elsevier, 2021, 43, pp.102008. ⟨10.1016/j.redox.2021.102008⟩

مصطلحات موضوعية: 0301 basic medicine, Mitochondrial ROS, Medicine (General), DUX4, QH301-705.5, Short Communication, Clinical Biochemistry, Biology, medicine.disease_cause, Biochemistry, Transcriptome, Myoblasts, 03 medical and health sciences, 0302 clinical medicine, R5-920, Downregulation and upregulation, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], medicine, Myocyte, Gene silencing, Humans, Biology (General), PITX1, Muscle differentiation, Homeodomain Proteins, FSHD, Organic Chemistry, Dystrophy, Cell Differentiation, Muscular Dystrophy, Facioscapulohumeral, 3. Good health, Cell biology, 030104 developmental biology, Oxidative stress, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0614c56056daeefe87ccc767ebdd5b62Test
http://www.sciencedirect.com/science/article/pii/S221323172100166XTest

6

Control of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Cancer

المؤلفون: Karpukhina, Anna, Tiukacheva, Eugenia, Dib, Carla, Vassetzky, Yegor, Dokudovskaya, Svetlana

المساهمون: Aspects métaboliques et systémiques de l'oncogénèse pour de nouvelles approches thérapeutiques (METSY), Institut Gustave Roussy (IGR)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)

المصدر: Trends in Molecular Medicine
Trends in Molecular Medicine, Elsevier, 2021, 27 (6), pp.588-601. ⟨10.1016/j.molmed.2021.03.008⟩

مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, sarcoma, DUX4, Manuscript Click here to access/download, [SDV]Life Sciences [q-bio], DUX4 regulation R1.docx, medicine.disease_cause, Epigenesis, Genetic, 03 medical and health sciences, 0302 clinical medicine, Neoplasms, medicine, Facioscapulohumeral muscular dystrophy, Humans, Epigenetics, Gene Silencing, Molecular Targeted Therapy, Molecular Biology, Genetics, Regulation of gene expression, Homeodomain Proteins, FSHD, biology, epigenetics, leukemia, DNA Methylation, Subtelomere, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, 3. Good health, Manuscript, 030104 developmental biology, Histone, Gene Expression Regulation, DNA methylation, biology.protein, Molecular Medicine, Carcinogenesis, gene regulation, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb2ed468da373e21f06f184f3ddb2627Test
https://hal.archives-ouvertes.fr/hal-03375995Test

7

Annexins and Membrane Repair Dysfunctions in Muscular Dystrophies

المؤلفون: Coralie Croissant, Charlotte Brévart, Romain Carmeille, Anthony Bouter

المساهمون: Chimie et Biologie des Membranes et des Nanoobjets (CBMN), École Nationale d'Ingénieurs des Travaux Agricoles - Bordeaux (ENITAB)-Institut de Chimie du CNRS (INC)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), AFM-Téléthon

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 5276, p 5276 (2021)
International Journal of Molecular Sciences
International Journal of Molecular Sciences, MDPI, 2021, 22 (10), pp.5276. ⟨10.3390/ijms22105276⟩

مصطلحات موضوعية: muscular dystrophy, Cell type, QH301-705.5, Muscle Fibers, Skeletal, Muscle Proteins, Review, Biology, Muscular Dystrophies, Catalysis, annexins, Inorganic Chemistry, Cell membrane, 03 medical and health sciences, 0302 clinical medicine, DMD, medicine, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Physical and Theoretical Chemistry, Muscular dystrophy, skeletal muscle, Biology (General), Muscle, Skeletal, Molecular Biology, QD1-999, Spectroscopy, Annexin A1, 030304 developmental biology, FSHD, 0303 health sciences, Sarcolemma, Cell Membrane, Organic Chemistry, Membrane Proteins, Skeletal muscle, General Medicine, genetic modifiers, medicine.disease, Miyoshi Muscular Dystrophy 1, LGMD, Computer Science Applications, Cell biology, Chemistry, medicine.anatomical_structure, membrane repair, medicine.symptom, 030217 neurology & neurosurgery, Muscle contraction, Limb-girdle muscular dystrophy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a937d1e78491768792101fd58c636458Test
https://www.mdpi.com/1422-0067/22/10/5276Test

8

A 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, 782-785

مصطلحات 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