المؤلفون: Chiara Orsini, Roberta Petillo, Paola D'Ambrosio, Manuela Ergoli, Esther Picillo, Marianna Scutifero, Luigia Passamano, Alessandro De Luca, Luisa Politano

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: CLCN1 mutations, myotonia congenita, Becker myotonia, Thomsen myotonia, southern Italy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.00063/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/71a47cd98b004640882217ae4a7879f9

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المؤلفون: Paola D'Ambrosio, Marianna Scutifero, Esther Picillo, Roberta Petillo, Alessandro De Luca, Chiara Orsini, Luisa Politano, Manuela Ergoli, L. Passamano

المساهمون: Orsini, G., Petillo, R., D'Ambrosio, P., Ergoli, M., Picillo, E., Scutifero, M., Passamano, L., De Luca, A., Politano, L.

المصدر: Frontiers in Neurology, Vol 11 (2020)
Frontiers in Neurology

مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:RC346-429, 03 medical and health sciences, Autosomal recessive trait, 0302 clinical medicine, southern Italy, medicine, Becker myotonia, Allele, lcsh:Neurology. Diseases of the nervous system, Original Research, Genetics, CLCN1, biology, Myotonia congenita, Thomsen myotonia, Autosomal dominant trait, Myotonia, medicine.disease, Penetrance, CLCN1 mutation, CLCN1 mutations, 030104 developmental biology, Muscle relaxation, Neurology, biology.protein, Neurology (clinical), myotonia congenita, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed09ed19d0c15b629109ca6de2381dcd

المؤلفون: Jou, Shuo-Bin, Chang, Ling-I, Pan, Huichin, Chen, Pei-Ru, Hsiao, Kuang-Ming

المصدر: Journal of Neurology. June 2004 251(6):666-670

المؤلفون: Aam Wilde, D.J. Verbove, Erik-Jan Kamsteeg, Gea Drost, H.B. Ginjaar, Bas C. Stunnenberg, G.J. van der Wilt, A. van den Wijngaard, Johanna C.W. Deenen, Thera P. Links, Catharina G. Faber, Joost Raaphorst, B.G.M. van Engelen

المساهمون: Damage and Repair in Cancer Development and Cancer Treatment (DARE), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Movement Disorder (MD), Cardiology, ACS - Heart failure & arrhythmias, MUMC+: DA KG Lab Centraal Lab (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9)

المصدر: Neuromuscular disorders, 28(5), 402-407. PERGAMON-ELSEVIER SCIENCE LTD
Neuromuscular disorders, 28(5), 402-407. Elsevier Limited
Neuromuscular Disorders, 28, 5, pp. 402-407
Neuromuscular Disorders, 28(5), 402-407. Elsevier Science
Neuromuscular Disorders, 28, 402-407

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13], DUTCH, PHENOTYPE, FAMILIES, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Myotonia, Skeletal muscle channelopathies, 0302 clinical medicine, Prevalence, Hyperkalemic periodic paralysis, NAV1.4 Voltage-Gated Sodium Channel, Disorders of movement Radboud Institute for Health Sciences [Radboudumc 3], Genetics (clinical), Netherlands, Andersen Syndrome, biology, Periodic paralysis, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Pedigree, Neurology, Paramyotonia congenita, Female, Myotonic Disorders, Adult, medicine.medical_specialty, Calcium Channels, L-Type, Hypokalemic Periodic Paralysis, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, Channelopathy, Hypokalemic periodic paralysis, Chloride Channels, ANDERSEN-TAWIL-SYNDROME, medicine, Humans, Potassium Channels, Inwardly Rectifying, Non-dystrophic myotonia, Aged, CLCN1, Myotonia congenita, business.industry, medicine.disease, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Mutation, biology.protein, CLCN1 MUTATIONS, Channelopathies, Neurology (clinical), Calcium Channels, business, MYOTONIA-CONGENITA, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6db92e41989634fdd14cbc17f58f25a2
https://research.rug.nl/en/publications/1f4bffc7-0e3f-4cc2-8973-98738f4b04cb

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