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

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

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

المؤلفون: Benjamin Weiner, W. David Arnold, Samantha LoRusso

المصدر: Neurotherapeutics. 15:872-884

مصطلحات موضوعية: 0301 basic medicine, Weakness, Review, Bioinformatics, Myotonic dystrophy, Myotonin-Protein Kinase, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Cataracts, medicine, Animals, Humans, Myotonic Dystrophy, Pharmacology (medical), Muscular dystrophy, Pharmacology, business.industry, Disease Management, RNA-Binding Proteins, Muscle weakness, medicine.disease, Myotonia, 030104 developmental biology, Mutation, Neurology (clinical), medicine.symptom, business, Trinucleotide repeat expansion, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcd769da602cf3b672d5a768ea500916Test
https://doi.org/10.1007/s13311-018-00679-zTest

المؤلفون: Coen A.C. Ottenheijm, Rhonda L. Taylor, Keren Muthsam, Gianina Ravenscroft, Gabrielle C. Musk, David J. Coote, Alison C. Testa, David Groth, Kristen J. Nowak, Elyshia McNamara, Amanda J. O'Hara, Nigel G. Laing, Joshua S. Clayton, James Kijas, Stefan Conijn, Hayley Goullee

المساهمون: VU University medical center, ACS - Pulmonary hypertension & thrombosis, Physiology

المصدر: Acta neuropathologica communications, 8(1):142. BioMed Central
Clayton, J S, McNamara, E L, Goullee, H, Conijn, S, Muthsam, K, Musk, G C, Coote, D, Kijas, J, Testa, A C, Taylor, R L, O'Hara, A J, Groth, D, Ottenheijm, C A C, Ravenscroft, G, Laing, N G & Nowak, K J 2020, ' Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy ', Acta neuropathologica communications, vol. 8, no. 1, 142 . https://doi.org/10.1186/s40478-020-01017-1Test
Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-14 (2020)

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Neuromuscular disease, Myotonia Congenita, Sheep Diseases, Skeletal muscle, Sheep model, Biology, Splicing, OCPMD, lcsh:RC346-429, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Nemaline myopathy, Troponin T, Troponin T1, medicine, Animals, Muscular dystrophy, Muscle, Skeletal, Nemaline bodies, lcsh:Neurology. Diseases of the nervous system, 2. Zero hunger, Congenital myopathy, Sheep, Research, Intron, Dystrophy, medicine.disease, Ca2+ sensitivity, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, TNNT1, Neurology (clinical), 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38bec9e6070ea9564e55b260c8368114Test
https://research.vumc.nl/en/publications/0b321e4e-2c3a-4696-8c29-65820a916d08Test

المؤلفون: Lin Chen, Yi Dai, Haitao Ren, Yun Yang, Xiaoming Wei, Zhangzhang Lan, Yanhuan Zhao, Liying Cui

المصدر: Neuromuscular Disorders. 25:617-624

مصطلحات موضوعية: Adult, Male, China, Pathology, medicine.medical_specialty, Adolescent, Myotonia Congenita, Microarray, Duchenne muscular dystrophy, Muscle disorder, Bioinformatics, Myotonic dystrophy, Muscular Dystrophies, Young Adult, Asian People, medicine, Humans, Muscular dystrophy, Child, Genetics (clinical), Oligonucleotide Array Sequence Analysis, business.industry, Myotonia congenita, Dystrophy, Middle Aged, medicine.disease, Congenital myopathy, Neurology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d46fa809720647a9480365f9cb68a77fTest
https://doi.org/10.1016/j.nmd.2015.03.002Test

المؤلفون: Giovanni Meola, Rosanna Cardani, Fiammetta Biasini, Elena Costa, Rea Valaperta

المصدر: Journal of Neurology. 264:1705-1714

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, medicine.medical_specialty, Neurology, Disease, Myotonic dystrophy, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Myotonic Dystrophy, Muscular dystrophy, Medical diagnosis, Myopathy, Intensive care medicine, Muscle biopsy, medicine.diagnostic_test, business.industry, Myotonia, medicine.disease, 030104 developmental biology, Physical therapy, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8f6ab44303c17074c16ad2696312817Test
https://doi.org/10.1007/s00415-017-8504-1Test

المؤلفون: Orla Hardiman, Aisling M. Ryan, Stela Lefter

المصدر: Neurology. 88:304-313

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Neuromuscular disease, Duchenne muscular dystrophy, Population, Myotonic dystrophy, Community Health Planning, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Prevalence, medicine, Humans, Muscular dystrophy, education, Retrospective Studies, education.field_of_study, business.industry, Myotonia congenita, Dystrophy, Neuromuscular Diseases, medicine.disease, 030104 developmental biology, Paramyotonia congenita, Physical therapy, Female, Neurology (clinical), business, Ireland, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b120c6827e27f3d833c5dda77cebc69aTest
https://doi.org/10.1212/wnl.0000000000003504Test

المؤلفون: Zhengqi Lu, Haotian Wu, Bingjun Zhang, Siyuan Liao, Yu Yang

المصدر: Neurology. 91(13)

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Weakness, Myotonic dystrophy, Myotonin-Protein Kinase, 030218 nuclear medicine & medical imaging, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Mitochondrial myopathy, medicine, Humans, Myotonic Dystrophy, Muscular dystrophy, CADASIL, business.industry, Brain, Middle Aged, medicine.disease, Myotonia, Magnetic Resonance Imaging, Muscle atrophy, Hyperintensity, Female, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a893894d714bf966b5fe5c4c3b7f1359Test
https://pubmed.ncbi.nlm.nih.gov/30249682Test

المؤلفون: C Domínguez-González, A Hernández-Voth, M Valverde-Gómez, A Ruiz-Curiel, D Sánchez-Tejerina, Julián Palomino-Doza, J Sayas-Catalán, Rafael Salguero-Bodes

المصدر: Revista de Neurología. 73:351

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Weakness, business.industry, Incidence (epidemiology), General Medicine, Myotonia, medicine.disease, Myotonic dystrophy, Sudden cardiac death, Respiratory failure, medicine, Neurology (clinical), medicine.symptom, Muscular dystrophy, business, Cause of death

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3d58fceb94bfa86662e69a6426ecd08dTest
https://doi.org/10.33588/rn.7310.2021366Test