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

Designed U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes

المؤلفون: Scott Q. Harper, Nicolas Wein, Gholamhossein Amini-Chermahini, Noah K. Taylor, Afrooz Rashnonejad

المصدر: Molecular Therapy: Nucleic Acids, Vol 23, Iss, Pp 476-486 (2021)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02b7486e41f503ad62b48e163701f988Test
https://doi.org/10.1016/j.omtn.2020.12.004Test

4

Targeted epigenetic repression by CRISPR/dSaCas9 suppresses pathogenic DUX4-fl expression in FSHD

المؤلفون: Charis L. Himeda, Takako I. Jones, Peter L. Jones

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 20, Iss, Pp 298-311 (2021)
Molecular Therapy. Methods & Clinical Development

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::509d33943db1210b156f4baf85f0fd2bTest
http://www.sciencedirect.com/science/article/pii/S2329050120302497Test

5

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

6

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

7

A Deoxyribonucleic Acid Decoy Trapping DUX4 for the Treatment of Facioscapulohumeral Muscular Dystrophy

المؤلفون: R. Joubert, Julie Dumonceaux, Thomas Voit, Virginie Mariot, Christophe Hourdé, Anne-Charlotte Marsollier

المصدر: Molecular Therapy. Nucleic Acids
Molecular Therapy: Nucleic Acids, Vol 22, Iss, Pp 1191-1199 (2020)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3dafad34aa47416725313adfd7b0083Test
https://doi.org/10.1016/j.omtn.2020.10.028Test

8

A team approach in the diagnosis and management of facioscapulohumeral muscular dystrophy: a case report

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 International

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80b2ebbd916f421cbbb86bc8b38bf83fTest
http://www.sciencedirect.com/science/article/pii/S2666638320300748Test

9

Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease

المؤلفون: Karlien Mul, Marjolein Kriek, Baziel G.M. van Engelen, Saskia Lassche, Umesh A. Badrising, Nicol C. Voermans, Olivier W.H. van der Heijden, Nienke van der Stoep, Aimee D C Paulussen, Christine E. M. de Die-Smulders, Sanne C. C. Vincenten

المصدر: Clinical Genetics, 101, 149-160
Clinical Genetics, 101, 2, pp. 149-160
Clinical Genetics, 101(2), 149-160. WILEY

مصطلحات موضوعية: Male, Multifactorial Inheritance, Reproductive counseling, Disease, Bioinformatics, Severity of Illness Index, Inheritance Patterns, Medicine, Facioscapulohumeral muscular dystrophy, genetics, D4Z4 REPEAT, Genetics (clinical), REARRANGEMENTS, Pregnancy Outcome, WOMEN, Disease Management, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Penetrance, Muscular Dystrophy, Facioscapulohumeral, Phenotype, Female, pregnancy, delivery, preimplantation genetic testing, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Adult, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, SOMATIC MOSAICISM, Clinical Decision-Making, facioscapulohumeral muscular dystrophy, Genetic Counseling, Prenatal diagnosis, DIAGNOSIS, Preimplantation genetic diagnosis, REGION, Diagnosis, Differential, NEUROMUSCULAR DISORDERS, Humans, Genetic Predisposition to Disease, Genetic Testing, Genetic Association Studies, FSHD, Pregnancy, prenatal diagnosis, SMCHD1, business.industry, medicine.disease, Pregnancy Complications, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30298dec965d8f350bb49e2ddaed70eaTest
http://hdl.handle.net/2066/248860Test

10

Upper Limb Rehabilitation in Facioscapulohumeral Muscular Dystrophy: A Patients’ Perspective

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 translation

مصطلحات 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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