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المؤلفون: Hülya MaraÅ Genç, Alev Güven, Beril Talim
المصدر: Clinical Neuropathology. 40:286-291
مصطلحات موضوعية: Male, medicine.medical_specialty, Mitochondrial Diseases, Myotonia Congenita, Biopsy, Metabolic myopathy, Gastroenterology, Pathology and Forensic Medicine, Internal medicine, medicine, Humans, Muscular dystrophy, Muscle, Skeletal, Muscle biopsy, medicine.diagnostic_test, biology, business.industry, Infant, Newborn, Infant, General Medicine, medicine.disease, Congenital myopathy, Hypotonia, Neurology, Child, Preschool, Cohort, biology.protein, Female, Creatine kinase, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fd530a22417051bd734b19cdb789912Test
https://doi.org/10.5414/np301380Test -
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المؤلفون: Qian Wu, Bhaskar Roy, Kevin J. Felice, Charles H. Whitaker
المصدر: Journal of Clinical Neuromuscular Disease. 22:135-146
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Weakness, Adolescent, Electromyography, 030105 genetics & heredity, Single Center, Myotonia, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Myotonic Dystrophy, Muscular dystrophy, Aged, Muscle Weakness, medicine.diagnostic_test, business.industry, General Medicine, Middle Aged, medicine.disease, Transplantation, Neurology, Cohort, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed, Trinucleotide repeat expansion, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::868c6ad0ab0a123f0f1dda370207b7d3Test
https://doi.org/10.1097/cnd.0000000000000340Test -
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المؤلفون: Frank Rigo, Qing Yu, Mahua Mandal, Ramesh S. Yadava, Mani S. Mahadevan, C. Frank Bennett
المصدر: Hum Mol Genet
مصطلحات موضوعية: musculoskeletal diseases, Untranslated region, congenital, hereditary, and neonatal diseases and abnormalities, Oligonucleotides, Mice, Transgenic, Biology, Myotonic dystrophy, Connexins, Myotonin-Protein Kinase, Mice, 03 medical and health sciences, 0302 clinical medicine, Chloride Channels, Genetics, medicine, Animals, Humans, Myotonic Dystrophy, RNA, Messenger, Muscular dystrophy, 3' Untranslated Regions, Molecular Biology, Genetics (clinical), 030304 developmental biology, Cell Nucleus, 0303 health sciences, CLCN1, Three prime untranslated region, RNA, General Medicine, Oligonucleotides, Antisense, medicine.disease, Myotonia, Disease Models, Animal, RNA splicing, biology.protein, Cancer research, General Article, Trinucleotide Repeat Expansion, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d87b49d385ddefd503ec7d2a387d659Test
https://doi.org/10.1093/hmg/ddaa060Test -
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المؤلفون: João P Pais, A. Nascimento, Ana R Cambão, Diana Guerra, Marta B Sousa
المصدر: Cureus
مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neuromuscular disease, Cardiology, heart failure, Myotonic dystrophy, Cataracts, cardiovascular disease, genetic disease, Internal medicine, Internal Medicine, Medicine, Muscular dystrophy, myotonic dystrophy, business.industry, General Engineering, Muscle weakness, neuromuscular disease, medicine.disease, Myotonia, Neurology, Heart failure, Electrical conduction system of the heart, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f129187fdc4b6a06c8851d0d5fa0c7bTest
http://europepmc.org/articles/PMC8577820Test -
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المصدر: Peripheral nerve blocks.
مصطلحات موضوعية: musculoskeletal diseases, Adductor canal, business.industry, Duchenne muscular dystrophy, Remifentanil, Myotonia, medicine.disease, Hypoventilation, medicine.anatomical_structure, Intravenous anesthesia, Femoral nerve, Anesthesia, medicine, medicine.symptom, Muscular dystrophy, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::31ce4e3eadc2cee2d0a86cfc77b759b1Test
https://doi.org/10.1136/rapm-2021-esra.205Test -
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المؤلفون: Jacob N. Miller, Alison Kruger, David J. Moser, Laurie Gutmann, Ellen van der Plas, Timothy R. Koscik, Sarah A. Cumming, Darren G. Monckton, Peggy C. Nopoulos
المصدر: Frontiers in Neurology
Frontiers in Neurology, Vol 12 (2021)مصطلحات موضوعية: cognition, medicine.medical_specialty, hypersomnolence, apathy, Neuropathology, Myotonic dystrophy, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Apathy, Muscular dystrophy, RC346-429, Depression (differential diagnoses), Original Research, 030304 developmental biology, 0303 health sciences, myotonic dystrophy, business.industry, Muscle weakness, Myotonia, medicine.disease, Neurology, depression, Cardiology, Anxiety, Neurology. Diseases of the nervous system, Neurology (clinical), medicine.symptom, business, fractional anisotropy, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0ee66b143da0f30a0c1cb224ba0592bTest
https://eprints.gla.ac.uk/247938/2/247938.pdfTest -
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المؤلفون: Viral Juthani, Fabreena Napier, Howard L. Geyer, Elizabeth A. Kitsis
المصدر: BMJ Case Rep
مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Keratoconjunctivitis Sicca, Physical examination, Unusual Association of Diseases/Symptoms, Myotonic dystrophy, Myotonin-Protein Kinase, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Myotonic Dystrophy, Muscular dystrophy, 030203 arthritis & rheumatology, medicine.diagnostic_test, business.industry, Electromyography, Steppage gait, General Medicine, Middle Aged, medicine.disease, Myotonia, Dermatology, Dysphagia, Rheumatology, eye diseases, stomatognathic diseases, Sjogren's Syndrome, Treatment Outcome, Antibodies, Antinuclear, Cyclosporine, Female, medicine.symptom, Percussion myotonia, business, Protein Kinases, 030217 neurology & neurosurgery, Immunosuppressive Agents
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdb08c27e9edb48a8a8f44b6aca042e3Test
https://pubmed.ncbi.nlm.nih.gov/31466972Test -
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المؤلفون: Elizabeth Teixeira Noguera Servin, Eduardo José Silva Gomes de Oliveira, Wildney Leite Lima, Ed Carlos Rey Moura, Lyvia Maria Rodrigues de Sousa Gomes, Caio Marcio Barros de Oliveira, Plinio da Cunha Leal
المصدر: Brazilian Journal of Anesthesiology, Vol 71, Iss 3, Pp 299-301 (2021)
مصطلحات موضوعية: medicine.medical_treatment, Limb-Girdle Muscular Dystrophy, 03 medical and health sciences, 0302 clinical medicine, Anesthesiology, 030202 anesthesiology, Medicine, Anesthesia, RD78.3-87.3, Muscular dystrophy, Case reports, Abdominoplasty, business.industry, Muscle weakness, General Medicine, Myotonia, medicine.disease, Blood pressure, Liposuction, medicine.symptom, business, Rhabdomyolysis, Perioperative care, Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96967256fb11c84f3b6dddd4adfb8db6Test
https://doi.org/10.1016/j.bjane.2021.02.046Test -
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المصدر: Anaesth Rep
مصطلحات موضوعية: Weakness, business.industry, Sedation, medicine.medical_treatment, Energy Engineering and Power Technology, Case Report, medicine.disease, Myotonia, Myotonic dystrophy, Septoplasty, Fuel Technology, Anesthesia, Positive airway pressure, medicine, medicine.symptom, Dexmedetomidine, Muscular dystrophy, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a804e3ce73c2eecc592700a1173a8b09Test
https://doi.org/10.1002/anr3.12070Test -
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المؤلفون: Marieke Willemse, Walterus Johannes Antonius Adriana van den Broek, Cornelia Rosanne Maria Ausems, Baziel G.M. van Engelen, Derick G. Wansink, Renée H.L. Raaijmakers, Hans van Bokhoven
المصدر: Molecular Therapy. Methods & Clinical Development
Molecular Therapy. Methods & Clinical Development, 15, pp. 120-132
Molecular Therapy. Methods & Clinical Development, 15, 120-132
Molecular Therapy: Methods & Clinical Development, Vol 15, Iss, Pp 120-132 (2019)مصطلحات موضوعية: 0301 basic medicine, Muscle tissue, musculoskeletal diseases, muscular dystrophy, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, Biology, Myotonic dystrophy, Article, 03 medical and health sciences, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, pericyte, triplet repeat expansion, Genetics, medicine, mesoangioblast, Muscular dystrophy, lcsh:QH573-671, Molecular Biology, muscle stem cell, Mesoangioblast, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], myotonic dystrophy, Myogenesis, lcsh:Cytology, Skeletal muscle, RNA toxicity, medicine.disease, Myotonia, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Cell biology, lcsh:Genetics, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, myogenic progenitor cell, Molecular Medicine, Pericyte, cell therapy, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32b0445d61e014e10933a64e4cc2b603Test
https://doi.org/10.1016/j.omtm.2019.09.002Test
