المؤلفون: Alonso Jiménez, Alicia

مرشدي الرسالة: Díaz Manera, Jordi, Illa Sendra, Isabel

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Ressonància magnètica, Resonancia magnética, Magnetic resonance imaging, Distròfies musculars, Distrofias musculares, Muscular dystrophies, Distròfia oculofaríngea, Distrofia oculofaríngea, Oculopharyngeal muscular dystrophy, Ciències de la Salut

الوقت: 616.8

وصف الملف: application/pdf

الوصول الحر: http://hdl.handle.net/10803/675516Test

المؤلفون: Kirschnick, Laura Borges¹ laurakirschnick@hotmail.com, Schuch, Lauren Frenzel¹, Pérez‐de‐Oliveira, Maria Eduarda¹, Normando, Ana Gabriela Costa¹, Mariz, Bruno Augusto Linhares Almeida¹, Guerra, Eliete Neves Silva², Silveira, Felipe Martins^3,4, Vasconcelos, Ana Carolina Uchoa⁵, Simonato, Luciana Estevam⁶, Khurram, Ali⁷, Lopes, Márcio Ajudarte¹, Vargas, Pablo Agustin¹, Martins, Manoela Domingues^1,4, Santos‐Silva, Alan Roger¹

المصدر: Oral Diseases. Nov2022, Vol. 28 Issue 8, p2309-2313. 5p. 1 Chart.

مصطلحات موضوعية: *PAPILLOMAVIRUSES, *OCULOPHARYNGEAL muscular dystrophy, *MOUTH tumors, *IMMUNOHISTOCHEMISTRY, *IMMUNOSUPPRESSION, *MEDICAL protocols, *SQUAMOUS cell carcinoma

المؤلفون: Kroon, Rosemarie H. M. J. M.¹ (AUTHOR) rosemarie.kroon@radboudumc.nl, Kalf, Johanna G.¹ (AUTHOR), Meijers, Rutger L.² (AUTHOR), de Swart, Bert J. M.¹ (AUTHOR), Cameron, Ian G. M.^3,4 (AUTHOR), Doorduin, Jonne² (AUTHOR), van Alfen, Nens² (AUTHOR), van Engelen, Baziel G. M.² (AUTHOR), Horlings, Corinne G. C.^2,5 (AUTHOR)

المصدر: Muscle & Nerve. Oct2022, Vol. 66 Issue 4, p453-461. 9p.

مصطلحات موضوعية: *OCULOPHARYNGEAL muscular dystrophy, *ULTRASONIC imaging, *SKELETAL muscle, *MUSCLE strength

المؤلفون: Milad Shademan, Hailiang Mei, Baziel van Engelen, Yavuz Ariyurek, Susan Kloet, Vered Raz

المصدر: HGG Advances, Vol 5, Iss 2, Pp 100269- (2024)

مصطلحات موضوعية: alternative polyadenylation, oculopharyngeal muscular dystrophy, PABPN1, RNA sequencing, muscle genes, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247724000083Test; https://doaj.org/toc/2666-2477Test

الوصول الحر: https://doaj.org/article/9c45c1721fbb4751baa5c3d28d0a9b6bTest

المؤلفون: Loredana Alungulese, Anca¹ ancaloredanaalungulese@gmail.com, García Soldevilla, Miguel Angel¹, Gordo Mañas, Ricardo¹, Vidal Díaz, Maria Belén¹

المصدر: Practical Neurology. Oct2022, Vol. 22 Issue 5, p413-415. 3p.

مصطلحات موضوعية: *MYASTHENIA gravis treatment, *OCULOPHARYNGEAL muscular dystrophy, *MYASTHENIA gravis, *MUSCLE proteins, *MUSCLES, *CHOLINERGIC receptors, *COMORBIDITY

المؤلفون: Masashi Ogasawara, Nobuyuki Eura, Aritoshi Iida, Theerawat Kumutpongpanich, Narihiro Minami, Ikuya Nonaka, Shinichiro Hayashi, Satoru Noguchi, Ichizo Nishino

المصدر: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: Oculopharyngodistal myopathy, LRP12, GIPC1, NOTCH2NLC, CGG repeat expansion, Oculopharyngeal muscular dystrophy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2051-5960Test

الوصول الحر: https://doaj.org/article/bf430c0312ca4de89b480b931a09d9f1Test

المؤلفون: Brisson, Jean‐Denis^1,2,3 (AUTHOR) jean_denis_brisson@hotmail.com, Gagnon, Cynthia^1,2,4 (AUTHOR), Brais, Bernard⁵ (AUTHOR), Côté, Isabelle² (AUTHOR), Mathieu, Jean^1,2,3 (AUTHOR), Brisson, Jean-Denis^6,7,8 (AUTHOR)

المصدر: Muscle & Nerve. Aug2020, Vol. 62 Issue 2, p201-207. 7p.

مصطلحات موضوعية: *BLEPHAROPTOSIS, *OCULOPHARYNGEAL muscular dystrophy, *CAUSES of death, *SURVIVAL, *DISEASE progression, *WHEELCHAIRS, *PROTEINS, *RESEARCH, *DNA, *RESEARCH methodology, *ACTIVITIES of daily living, *DEGLUTITION disorders, *RETROSPECTIVE studies, *CREATINE kinase, *EVALUATION research, *MEDICAL cooperation, *MUSCLE weakness, *LEG, *COMPARATIVE studies, *SYMPTOMS, *AGE factors in disease, *RESEARCH funding, *FATIGUE (Physiology), *ELECTROMYOGRAPHY, *VOICE disorders

المؤلفون: Tongling Liufu, Yilei Zheng, Jiaxi Yu, Yun Yuan, Zhaoxia Wang, Jianwen Deng, Daojun Hong

المصدر: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-15 (2022)

مصطلحات موضوعية: PolyG diseases, Fragile X-associated tremor/ataxia syndrome, Neuronal intranuclear inclusion disease, Oculopharyngeal myopathy with leukoencephalopathy, Oculopharyngodistal myopathy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2051-5960Test

الوصول الحر: https://doaj.org/article/267dabd3d2f64d428976965d657aa313Test

المؤلفون: Naït-Saïdi, Rima, Chartier, Aymeric, Abgueguen, Emmanuelle, Guédat, Philippe, Simonelig, Martine

المساهمون: Institut de génétique humaine (IGH), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), ANR-17-CE12-0011,riboOPMD,ARN ribosomiques et petits ARN non-codants dans la dystrophie musculaire oculopharyngée(2017)

المصدر: EISSN: 2046-2441 ; Open Biology ; https://hal.science/hal-04121825Test ; Open Biology, 2023, 13 (4), pp.230008. ⟨10.1098/rsob.230008⟩

مصطلحات موضوعية: Drosophila model, GADD34, Icerguastat/IFB-088, OPMD, PEK/PERK, Unfolded protein response, MESH: Animals, MESH: Muscular Dystrophy, Oculopharyngeal, MESH: Muscle, Skeletal, MESH: Unfolded Protein Response, MESH: Cell Nucleus, MESH: Endoplasmic Reticulum Stress, MESH: Drosophila, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37042114; hal-04121825; https://hal.science/hal-04121825Test; https://hal.science/hal-04121825/documentTest; https://hal.science/hal-04121825/file/Nait-Saidi%20et%20al.2023.pdfTest; PUBMED: 37042114; PUBMEDCENTRAL: PMC10090878; WOS: 000969186000002

الإتاحة: https://doi.org/10.1098/rsob.230008Test
https://hal.science/hal-04121825Test
https://hal.science/hal-04121825/documentTest
https://hal.science/hal-04121825/file/Nait-Saidi%20et%20al.2023.pdfTest

المؤلفون: Pradeep Harish, Alberto Malerba, Rosemarie H. M. J. M. Kroon, Milad Shademan, Baziel van Engelan, Vered Raz, Linda Popplewell, Stuart G. Snowden

المصدر: Metabolites; Volume 13; Issue 6; Pages: 769

مصطلحات موضوعية: biomarker, metabolomics, LC-MS, random forest, oculopharyngeal muscular dystrophy

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/metabo13060769Test

الإتاحة: https://doi.org/10.3390/metabo13060769Test