المؤلفون: Allen, Jodi, Stone-Ghariani, Aoife, Quezada, Gabriella, Banks, Donna, Rose, Frank, Knight, William, Newman, Jill, Newman, William, Anderson, Philip, Smith, Christina

مصطلحات موضوعية: Swallowing, Myotonic Dystrophy Type 1 (DM1), Facioscapulohumeral Muscular Dystrophy (FSHD), Spinal Muscular Atrophy (SMA), Advisory Group

وصف الملف: 389-410; application/pdf

Relation: Journal of Neuromuscular Diseases; https://eresearch.qmu.ac.uk/handle/20.500.12289/13722/13722.pdf; Allen, J., Stone-Ghariani, A., Quezada, G., Banks, D., Rose, F., Knight, W., Newman, J., Newman, W., Anderson, P. and Smith, C. (2024) ‘Living with dysphagia: a survey exploring the experiences of adults living with neuromuscular disease and their caregivers in the united kingdom’, Journal of Neuromuscular Diseases, 11(2), pp. 389–410. Available at: https://doi.org/10.3233/JND-230002.; https://eresearch.qmu.ac.uk/handle/20.500.12289/13722; https://doi.org/10.3233/JND-230002

الاتاحة: https://eresearch.qmu.ac.uk/handle/20.500.12289/13722/13722.pdf
https://hdl.handle.net/20.500.12289/13722/13722.pdf
https://eresearch.qmu.ac.uk/handle/20.500.12289/13722
https://hdl.handle.net/20.500.12289/13722
https://doi.org/10.3233/JND-230002

المؤلفون: Antonio Lauletta, Yves Allenbach, Anthony Behin, Teresinha Evangelista, Sarah Leonard-Louis, Matteo Garibaldi, Olivier Benveniste

المساهمون: Lauletta, Antonio, Allenbach, Yve, Behin, Anthony, Evangelista, Teresinha, Leonard-Louis, Sarah, Garibaldi, Matteo, Benveniste, Olivier

مصطلحات موضوعية: Idiopathic inflammatory myopathies (IIMs) Muscular dystrophies (MDs) Facioscapulohumeral muscular dystrophy (FSHD) IIMs-FSHD association FSHD and myositis

Relation: journal:JOURNAL OF THE NEUROLOGICAL SCIENCES; https://hdl.handle.net/11573/1732432

الاتاحة: https://hdl.handle.net/11573/1732432
https://doi.org/10.1016/j.jns.2025.123400

المؤلفون: Maceroni, Martina, Monforte, Mauro, Falsini, Benedetto, Rizzo, Stanislao, Savastano, Maria Cristina, Ricci, Enzo, Tasca, Giorgio, Minnella, Angelo Maria

المساهمون: Maceroni, Martina, Monforte, Mauro, Cariola, Rossella, Falsini, Benedetto, Rizzo, Stanislao, Savastano, Maria Cristina, Martelli, Francesco, Ricci, Enzo, Bortolani, Sara, Tasca, Giorgio, Minnella, Angelo Maria

مصطلحات موضوعية: deep capillary plexus (DCP), facioscapulohumeral muscular dystrophy (FSHD), foveal avascular zone (FAZ), optical coherence tomography-angiography (OCT-A), retinal vasculopathy, superficial capillary plexus (SCP), tortuosity index (TI), vessel density (VD), Settore MED/30 - MALATTIE APPARATO VISIVO

Relation: info:eu-repo/semantics/altIdentifier/pmid/36900126; info:eu-repo/semantics/altIdentifier/wos/WOS:000946979100001; volume:13; issue:5; firstpage:982; lastpage:N/A; issueyear:2023; journal:DIAGNOSTICS; https://hdl.handle.net/10807/233570; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149775396

الاتاحة: https://hdl.handle.net/10807/233570
https://doi.org/10.3390/diagnostics13050982

المؤلفون: Sandrine Arbogast, Heinrich Kotzur, Corinna Frank, Nathalie Compagnone, Thibault Sutra, Fabien Pillard, Sylvia Pietri, Nisrine Hmada, Daouda Moustapha Abba Moussa, Jamie Bride, Sarah Françonnet, Jacques Mercier, Jean-Paul Cristol, Marie-Christine Dabauvalle, Dalila Laoudj-Chenivesse

المصدر: Redox Biology, Vol 56, Iss , Pp 102450- (2022)

مصطلحات موضوعية: Adenine nucleotide translocase type 1 (ANT1), Facioscapulohumeral muscular dystrophy (FSHD), Primary muscle cells, Xenopus laevis, Mitochondrial function, Metabolism, Oxidative stress, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213231722002221; https://doaj.org/toc/2213-2317

URL الوصول: https://doaj.org/article/3f4bc3f483b048c7bb45bfb6ac0f288a

المؤلفون: Christopher R S Banerji, Peter S Zammit

المصدر: EMBO Molecular Medicine, Vol 13, Iss 8, Pp 1-25 (2021)

مصطلحات موضوعية: biomarker, DUX4, facioscapulohumeral muscular dystrophy (FSHD), pathology, PAX7, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/c5e23813bf1949a6b6aa84f1244f2a2a

المؤلفون: Leo H. Wang, Dennis W. W. Shaw, Anna Faino, Christopher B. Budech, Leann M. Lewis, Jeffrey Statland, Katy Eichinger, Stephen J. Tapscott, Rabi N. Tawil, Seth D. Friedman

المصدر: BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: MRI, All neuromuscular disease, Muscle disease, Facioscapulohumeral muscular dystrophy (FSHD), Outcome measures, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2474

URL الوصول: https://doaj.org/article/d70451aa6ae64c5697fa216d037e6492

المؤلفون: Teresa Schätzl, Lars Kaiser, Hans-Peter Deigner

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-26 (2021)

مصطلحات موضوعية: Facioscapulohumeral muscular dystrophy (FSHD), Double Homeobox 4 (DUX4), Epigenetic, Downstream signalling, Treatment strategies, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/6962fa1e9abd4ab3a1e09d7a1e621d29

المؤلفون: Leo H. Wang, Laura M. Johnstone, Michael Bindschadler, Stephen J. Tapscott, Seth D. Friedman

المصدر: BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: All neuromuscular disease, Muscle disease, Facioscapulohumeral muscular dystrophy (FSHD), Outcome measures, Case report, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2474

URL الوصول: https://doaj.org/article/519fc0c87b7045eaa80ac1ba077301ff

المؤلفون: Feeney, Sandra J., McGrath, Meagan J., Sriratana, Absorn, Gehrig, Stefan M., Lynch, Gordon S., D'Arcy, Colleen E., Price, John T., McLean, Catriona A., Tupler, Rossella, Mitchell, Christina A.

المساهمون: Department of Molecular, Cell and Cancer Biology, Program in Gene Function and Expression

المصدر: PloS one ; 10 ; 2 ; e0117665

مصطلحات موضوعية: Facioscapulohumeral muscular dystrophy (FSHD), FRG1, FHL1, Cell and Developmental Biology, Cellular and Molecular Physiology, Molecular Biology, Molecular Genetics, Musculoskeletal Diseases, Nervous System Diseases

Relation: Link to Article in PubMed; PLoS One. 2015 Feb 19;10(2):e0117665. doi:10.1371/journal.pone.0117665. Link to article on publisher's site; 1932-6203 (Linking); http://hdl.handle.net/20.500.14038/39684; https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=3483&context=oapubs&unstamped=1; https://escholarship.umassmed.edu/oapubs/2480; 7036619; oapubs/2480

الاتاحة: https://doi.org/10.1371/journal.pone.0117665
https://hdl.handle.net/20.500.14038/39684
https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=3483&context=oapubs&unstamped=1
https://escholarship.umassmed.edu/oapubs/2480

المؤلفون: Ghasemi, Mehdi, Emerson, Charles P. Jr., Hayward, Lawrence J.

المساهمون: Emerson Lab, Wellstone Muscular Dystrophy Program, Department of Neurology

المصدر: Cells ; 11 ; 4 ; 687

مصطلحات موضوعية: clinical trial, double homeobox 4 (DUX4), facioscapulohumeral muscular dystrophy (FSHD), magnetic resonance imaging (MRI), outcome measures, Cellular and Molecular Physiology, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Musculoskeletal Diseases, Musculoskeletal, Neural, and Ocular Physiology, Nervous System Diseases

Relation: Link to Article in PubMed; http://www.ncbi.nlm.nih.gov/pmc/articles/pmc8870318/; Ghasemi M, Emerson CP Jr, Hayward LJ. Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials. Cells. 2022 Feb 16;11(4):687. doi:10.3390/cells11040687. PMID: 35203336; PMCID: PMC8870318. Link to article on publisher's site; 2073-4409 (Linking); http://hdl.handle.net/20.500.14038/30721; https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=3225&context=faculty_pubs&unstamped=1; https://escholarship.umassmed.edu/faculty_pubs/2192; faculty_pubs/2192

الاتاحة: https://doi.org/10.3390/cells11040687
https://hdl.handle.net/20.500.14038/30721
https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=3225&context=faculty_pubs&unstamped=1
https://escholarship.umassmed.edu/faculty_pubs/2192

المؤلفون: Leo H. Wang (10287238), Dennis W. W. Shaw (10287241), Anna Faino (10287244), Christopher B. Budech (5353832), Leann M. Lewis (10287247), Jeffrey Statland (4831611), Katy Eichinger (3183093), Stephen J. Tapscott (10287250), Rabi N. Tawil (10287253), Seth D. Friedman (10287256)

مصطلحات موضوعية: Medicine, Cell Biology, Genetics, Neuroscience, Physiology, Computational Biology, Space Science, MRI, All neuromuscular disease, Muscle disease, Facioscapulohumeral muscular dystrophy (FSHD), Outcome measures

Relation: https://figshare.com/articles/journal_contribution/Additional_file_4_of_Longitudinal_study_of_MRI_and_functional_outcome_measures_in_facioscapulohumeral_muscular_dystrophy/14196868

الاتاحة: https://doi.org/10.6084/m9.figshare.14196868.v1

المؤلفون: Nobutoshi Morimoto, Mizuki Morimoto, Yoshiaki Takahashi, Motonori Takamiya, Ichizo Nishino, Koji Abe

المصدر: eNeurologicalSci, Vol 21, Iss , Pp 100284- (2020)

مصطلحات موضوعية: Facioscapulohumeral muscular dystrophy (FSHD), Restrictive ventilatory defect (RVD), Congestive heart failure (CHF), Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405650220300630; https://doaj.org/toc/2405-6502

URL الوصول: https://doaj.org/article/793e918d96f0473696442477e11db7ae

المساهمون: and Jerry, D

وصف الملف: Medium: ED; Size: 3 pages

URL الوصول: http://www.osti.gov/scitech/servlets/purl/1039284

المؤلفون: N. V. Zernov, A. A. Guskova, M. Yu. Skoblov, Н. В. Зернов, А. А. Гуськова, М. Ю. Скоблов

المصدر: Medical Genetics; Том 18, № 7 (2019); 3-9 ; Медицинская генетика; Том 18, № 7 (2019); 3-9 ; 2073-7998

مصطلحات موضوعية: diagnostic, повторы D4Z4, ПЦР, диагностика, Facioscapulohumeral muscular dystrophy (FSHD), D4Z4 repeats, PCR

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/695/430; https://www.medgen-journal.ru/jour/article/view/695

الاتاحة: https://www.medgen-journal.ru/jour/article/view/695
https://doi.org/10.25557/2073-7998.2019.07.3-9

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::626c349241be4c1f8a5c76759be1c614
https://doaj.org/article/519fc0c87b7045eaa80ac1ba077301ff

المؤلفون: Chagarlamudi, Hema, Corbett, Alastair, Stoll, Marion, Bibat, Genila, Grosmann, Carla, Stock, Carly Matichak, Stinson, Nikia, Shapiro, Jay, Wagner, Kathryn

المساهمون: Wellstone Center for FSHD

المصدر: Muscle and nerve

مصطلحات موضوعية: Muscular Dystrophy, Bone Density, Bone Health, Bone Mineral Density, Facioscapulohumeral Muscular Dystrophy (FSHD), Cell Biology, Developmental Biology, Molecular Biology, Molecular Genetics, Musculoskeletal Diseases, Nervous System Diseases

Relation: Link to Article in PubMed; https://doi.org/10.1002/mus.25619; Muscle Nerve. 2017 Feb 18. doi:10.1002/mus.25619. Link to article on publisher's site; 0148-639X (Linking); http://hdl.handle.net/20.500.14038/50567; https://escholarship.umassmed.edu/wellstone_pubs/36; wellstone_pubs/36

الاتاحة: https://doi.org/10.1002/mus.25619
https://hdl.handle.net/20.500.14038/50567
https://escholarship.umassmed.edu/wellstone_pubs/36

المؤلفون: Katsuhisa Ogata, Mikiya Suzuki, Satoshi Kuru, Toshiaki Takahashi, Toshio Saito, 久留 聡, 尾方 克久, 鈴木 幹也, 髙橋 俊明, 齊藤 利雄

المصدر: 臨床神経学 / Rinsho Shinkeigaku. 2019, 59(11):716

المؤلفون: Turki, Ahmed, Hayot, Maurice, Carnac, Gilles, Pillard, Fabien, Passerieux, Emilie, Bommart, Sébastien, Raynaud, E., Hugon, Gerald, Joel, Pincemail, Pietri, Sylvia, Lambert, Karen, Belayew, Alexandra, Vassetzky, Yegor, Juntas-Morales, Raul, Mercier, Jacques, Laoudj-Chenivesse, Dalila, D.

المساهمون: Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU, Liège, Institut de Chimie Radicalaire (ICR), Aix Marseille Université (AMU)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS), Service de Biologie Moléculaire, Université de Mons, Belgique, Interactions moléculaires et cancer (IMC (UMR 8126)), Signalisation, noyaux et innovations en cancérologie (UMR8126), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS)-Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Université Montpellier 1 (UM1)

المصدر: ISSN: 0891-5849 ; Free Radical Biology and Medicine ; https://amu.hal.science/hal-01146575 ; Free Radical Biology and Medicine, 2012, pp.1068-1079. ⟨10.1016/j.freeradbiomed.2012.06.041⟩.

مصطلحات موضوعية: ROS, double homebox 4 gene, GSSG, T Lim, MVC, Lipofuscin, Facioscapulohumeral muscular dystrophy (FSHD) 4-Hydroxy-2-nonenal Thiobarbituric acid-reactive substances Lipofuscin Oxidative stress Protein oxidation Radical oxygen species Mitochondria dysfunction Antioxidants Abbreviations: FSHD, Cu-SOD, Facioscapulohumeral muscular dystrophy (FSHD), U1046, HNE, TBARS, oxidized glutathione, reactive oxygen species, manganese-dependent superoxide dismutase, DUX4, Bâtiment Crastes de Paulet, Oxidative stress, endurance limit time, maximal voluntary contraction, thiobarbituric acid-reactive substances, 4-hydroxy-2-nonenal, 2-MWT, MnSOD, facioscapulohumeral dystrophy, reduced glutathione, GSH, copper-zinc-dependent superoxide dismutase, glutathione reductase, Protein oxidation

Relation: hal-01146575; https://amu.hal.science/hal-01146575; https://amu.hal.science/hal-01146575/document; https://amu.hal.science/hal-01146575/file/Turki,%20FRBM,%202012.pdf

الاتاحة: https://amu.hal.science/hal-01146575
https://amu.hal.science/hal-01146575/document
https://amu.hal.science/hal-01146575/file/Turki,%20FRBM,%202012.pdf
https://doi.org/10.1016/j.freeradbiomed.2012.06.041

المؤلفون: Passerieux, Emilie, Hayot, Maurice, Jaussent, Audrey, Carnac, Gilles, Gouzi, Fares, Pillard, Fabien, Picot, Marie-Christine, Böcker, Koen, Hugon, Gerald, Pincemail, Joel, Defraigne, Jean, O, Verrips, Theo, Mercier, Jacques, Laoudj-Chenivesse, Dalila, D.

المساهمون: Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Unité de biostatistiques et épidémiologie, Service d'exploration de la fonction respiratoire et de médecine du sport, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Département de l'Information Médicale, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Lapeyronie, The Alan Turing Institute, Centre Hospitalier Universitaire de Liège (CHU-Liège), Universiteit Utrecht / Utrecht University Utrecht

المصدر: ISSN: 0891-5849 ; Free Radical Biology and Medicine ; https://hal.science/hal-01679192 ; Free Radical Biology and Medicine, 2015, 81, pp.158 - 169. ⟨10.1016/j.freeradbiomed.2014.09.014⟩.

مصطلحات موضوعية: Physical performance, Oxidative stress, Antioxidants, Radical oxygen species, Facioscapulohumeral muscular dystrophy (FSHD), [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition

Relation: hal-01679192; https://hal.science/hal-01679192; https://hal.science/hal-01679192/document; https://hal.science/hal-01679192/file/Passerieux%20et%20al%20FRBM%202015.pdf

الاتاحة: https://hal.science/hal-01679192
https://hal.science/hal-01679192/document
https://hal.science/hal-01679192/file/Passerieux%20et%20al%20FRBM%202015.pdf
https://doi.org/10.1016/j.freeradbiomed.2014.09.014

المؤلفون: Morimoto, Nobutoshi, Morimoto, Mizuki, Takahashi, Yoshiaki, Takamiya, Motonori, Nishino, Ichizo, Abe, Koji

المصدر: eNeurologicalSci

مصطلحات موضوعية: Facioscapulohumeral muscular dystrophy (FSHD), Restrictive ventilatory defect (RVD), Congestive heart failure (CHF)

Relation: info:pmid/33195829; https://ousar.lib.okayama-u.ac.jp/files/public/6/61040/2021012911443734886/fulltext.pdf; https://ousar.lib.okayama-u.ac.jp/61040

الاتاحة: https://ousar.lib.okayama-u.ac.jp/files/public/6/61040/2021012911443734886/fulltext.pdf
https://ousar.lib.okayama-u.ac.jp/61040