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المؤلفون: Rabi Tawil, Leo H. Wang
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 -
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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)
مصطلحات موضوعية: 0301 basic medicine, DUX4, Genetic enhancement, Biology, Vectors in gene therapy, U7, 03 medical and health sciences, 0302 clinical medicine, snRNA, RNA interference, Drug Discovery, medicine, Gene silencing, Facioscapulohumeral muscular dystrophy, FSHD, Myogenesis, lcsh:RM1-950, medicine.disease, gene therapy, Cell biology, RNA silencing, lcsh:Therapeutics. Pharmacology, 030104 developmental biology, 030220 oncology & carcinogenesis, Molecular Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02b7486e41f503ad62b48e163701f988Test
https://doi.org/10.1016/j.omtn.2020.12.004Test -
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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 Developmentمصطلحات موضوعية: 0301 basic medicine, muscular dystrophy, lcsh:QH426-470, DUX4, facioscapulohumeral muscular dystrophy, Biology, dCas9, 03 medical and health sciences, 0302 clinical medicine, CRISPR inhibition, Genetics, medicine, Facioscapulohumeral muscular dystrophy, Gene silencing, CRISPR, lcsh:QH573-671, Molecular Biology, Psychological repression, Regulation of gene expression, FSHD, Cas9, lcsh:Cytology, AAV, medicine.disease, gene therapy, Cell biology, Chromatin, lcsh:Genetics, 030104 developmental biology, 030220 oncology & carcinogenesis, Epigenetic Repression, Molecular Medicine, Original Article, gene regulation, epigenetic repression
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::509d33943db1210b156f4baf85f0fd2bTest
http://www.sciencedirect.com/science/article/pii/S2329050120302497Test -
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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
مصطلحات موضوعية: 0301 basic medicine, Skeletal Muscle, DUX4, Facioscapulohumeral Muscular Dystrophy, Clinical Biochemistry, PAX3, Biology, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, medicine, Facioscapulohumeral muscular dystrophy, Myocyte, Molecular Biology, FSHD, Estradiol, Biochemistry (medical), β-catenin, musculoskeletal system, medicine.disease, PAX7, 030104 developmental biology, Catenin, Cancer research, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a11122fa0f6d9a40acff7acd1ad2d33Test
https://doi.org/10.1515/tjb-2020-0351Test -
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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)مصطلحات موضوعية: 0301 basic medicine, DUX4, Facioscapulohumeral dystrophy, 03 medical and health sciences, 0302 clinical medicine, Drug Discovery, medicine, Facioscapulohumeral muscular dystrophy, Epigenetics, Gene, Transcription factor, FSHD, Chemistry, Myogenesis, lcsh:RM1-950, Transfection, Neuromuscular disease, medicine.disease, Cell biology, lcsh:Therapeutics. Pharmacology, 030104 developmental biology, 030220 oncology & carcinogenesis, Muscle, Decoy, Molecular Medicine, Original Article, Therapy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3dafad34aa47416725313adfd7b0083Test
https://doi.org/10.1016/j.omtn.2020.10.028Test -
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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: 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 -
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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 -
9A 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: Christopher R. S. Banerji, Peter S. Zammit
المصدر: EMBO Molecular Medicine
EMBO Molecular Medicine, Vol 13, Iss 8, Pp n/a-n/a (2021)مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Medicine (General), congenital, hereditary, and neonatal diseases and abnormalities, DUX4, Gene Expression, Review, QH426-470, Biology, 03 medical and health sciences, R5-920, 0302 clinical medicine, Genetics, medicine, Facioscapulohumeral muscular dystrophy, Humans, Epigenetics, Transcription factor, Musculoskeletal System, Homeodomain Proteins, Myogenesis, PAX7 Transcription Factor, Subtelomere, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, PAX7, 030104 developmental biology, Gene Expression Regulation, facioscapulohumeral muscular dystrophy (FSHD), Molecular Medicine, Biomarker (medicine), biomarker, pathology, Genetics, Gene Therapy & Genetic Disease, 030217 neurology & neurosurgery, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::803fa659628223e36d078d9fe386c60fTest
https://pubmed.ncbi.nlm.nih.gov/34151531Test