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المؤلفون: Matsuura, Tohru^Aff3

المساهمون: Takahashi, Masanori P., editor^Aff1, Matsumura, Tsuyoshi, editor^Aff2

المصدر: Myotonic Dystrophy : Disease Mechanism, Current Management and Therapeutic Development. :1-18

المؤلفون: Holler, Christopher J, Davis, Paulina R, Beckett, Tina L, Platt, Thomas L, Webb, Robin L, Head, Elizabeth, Murphy, M Paul

المصدر: Journal of Alzheimer's Disease. 42(4)

مصطلحات موضوعية: Biological Psychology, Psychology, Neurodegenerative, Alzheimer's Disease, Aging, Brain Disorders, Acquired Cognitive Impairment, Dementia, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Aetiology, 2.1 Biological and endogenous factors, Neurological, Adaptor Proteins, Signal Transducing, Aged, 80 and over, Alzheimer Disease, Amyloid beta-Peptides, Blotting, Western, Brain, Cell Line, Tumor, Electrophoresis, Polyacrylamide Gel, Female, Humans, Immunohistochemistry, Isomerism, Male, Neurofibrillary Tangles, Nuclear Proteins, Plaque, Amyloid, Tumor Suppressor Proteins, tau Proteins, Alzheimer's disease, ZNF9, amyloid-β peptide, cellular nucleic acid binding protein, myotonic dystrophy, tau, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/865675kh

المؤلفون: Finsterer J, Stöllberger C, Reining-Festa A, Loewe-Grgurin M, Gencik M

المصدر: Balkan Journal of Medical Genetics, Vol 21, Iss 2, Pp 39-43 (2018)

مصطلحات موضوعية: cardiac involvement, creatine kinase (hyper-ckemia), multisystem disease, myotonia, neuromuscular, znf9 gene, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1311-0160

URL الوصول: https://doaj.org/article/74debaea8338484bacf44e95175a640e

المؤلفون: Dalton, Joline^Aff2, Goldman, Jill S.^Aff3, Sampson, Jacinda B.^Aff4

المساهمون: Goldman, Jill S., editor^Aff1

المصدر: Genetic Counseling for Adult Neurogenetic Disease : A Casebook for Clinicians. :263-270

المؤلفون: G. E. Rudenskaya, A. V. Polyakov

المصدر: Анналы клинической и экспериментальной неврологии, Vol 6, Iss 2, Pp 55-60 (2017)

مصطلحات موضوعية: myotonic dystrophy type 2, znf9 (cnbp1) gene, cctg repeats, proximal myotonic myopathy, myalgia, multisystem involvement, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://annaly-nevrologii.com/journal/pathID/article/viewFile/269/178; https://doaj.org/toc/2075-5473; https://doaj.org/toc/2409-2533

URL الوصول: https://doaj.org/article/dbee0c26aadb443daad9216b2222cd72

المؤلفون: Rayan, Dipa L. Raja^Aff4, Turner, Chris^Aff4

المساهمون: Manji, Hadi, editor^Aff1, Turner, Chris, editor^Aff2, Evans, Matthew R. B., editor^Aff3

المصدر: Neuromuscular Disease : Case Studies from Queen Square. :185-186

Degree: MA, MBBS, MRCP
FRCP, PhD

المؤلفون: M Gencik, M Loewe-Grgurin, C Stöllberger, Josef Finsterer, A Reining-Festa

المصدر: Balkan Journal of Medical Genetics, Vol 21, Iss 2, Pp 39-43 (2018)
Balkan Journal of Medical Genetics : BJMG

مصطلحات موضوعية: medicine.medical_specialty, Proximal muscle weakness, Case Report, QH426-470, Chest pain, Asymptomatic, Gastroenterology, Proximal myotonic myopathy, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Diabetes mellitus, cardiac involvement, Genetics, Medicine, Genetics (clinical), znf9 gene, Thrombocytosis, multisystem disease, business.industry, Muscle weakness, Myotonia, medicine.disease, myotonia, 030220 oncology & carcinogenesis, creatine kinase (hyper-ckemia), neuromuscular, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f69f844cc7aa82c825dae4d07409ff63
https://doaj.org/article/74debaea8338484bacf44e95175a640e

المؤلفون: Sahenk, Zarife, Mendell, Jerry R.

المصدر: Current Rheumatology Reports. June 2011 13(3):199-207

المؤلفون: Jakubiczka, Sibylle, Vielhaber, Stefan, Kress, Wolfram, Küpferling, Peter, Reuner, Ulrike, Kunath, Bernhard, Wieacker, Peter

المصدر: Neurogenetics. February 2004 5(1):55-59