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1
المؤلفون: A. A. Sharkov, Tatiana D. Krylova, G. E. Rudenskaya, Ilya V. Kanivets, Sergey Korostelev, Inna V. Sharkova, Ekaterina Zakharova, Peter Sparber, V. V. Kadyshev, Ekaterina Pomerantseva, Nina Demina, Mikhail Skoblov, Svetlana V. Mikhailova, Vladimir Kaimonov, Svetlana A. Repina
المصدر: Parkinsonismrelated disorders. 84
مصطلحات موضوعية: 0301 basic medicine, Adult, Pathology, medicine.medical_specialty, Adolescent, Neuroaxonal Dystrophies, Substantia nigra, Globus Pallidus, Russia, Mitochondrial Proteins, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Exome Sequencing, Medicine, Humans, Spasticity, Allele, Child, Gene, Exome sequencing, Retrospective Studies, Sanger sequencing, business.industry, Neurodegeneration, Muscle weakness, Membrane Proteins, medicine.disease, Iron Metabolism Disorders, Magnetic Resonance Imaging, Substantia Nigra, 030104 developmental biology, Neurology, Mitochondrial Membranes, symbols, Female, Neurology (clinical), Geriatrics and Gerontology, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b09f5c2ae08feb8b9746ed8786b6725eTest
https://pubmed.ncbi.nlm.nih.gov/34274621Test -
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المصدر: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 117(11)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Neurological examination, Russia, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Blood serum, Internal medicine, Medicine, Facioscapulohumeral muscular dystrophy, Humans, Child, biology, medicine.diagnostic_test, business.industry, Middle Aged, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Molecular analysis, Psychiatry and Mental health, 030104 developmental biology, Chromosome 4, Phenotype, biology.protein, Russian population, Creatine kinase, Female, Neurology (clinical), Age of onset, Chromosomes, Human, Pair 4, business, 030217 neurology & neurosurgery, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75314e173ea23471d42cb1a0757f2f0fTest
https://pubmed.ncbi.nlm.nih.gov/29265097Test -
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المؤلفون: A. A. Sharkov, Inna V. Sharkova, Elena Belousova, Elena L. Dadali
المصدر: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 116(9. Vyp. 2)
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, medicine.medical_treatment, Targeted therapy, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Stiripentol, medicine, STXBP1, Humans, Genetic Predisposition to Disease, business.industry, Genetic heterogeneity, medicine.disease, Psychiatry and Mental health, 030104 developmental biology, Mutation, Etiology, Neurology (clinical), Levetiracetam, business, Neurocognitive, Spasms, Infantile, 030217 neurology & neurosurgery, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03da19919eaefba1867ff806aea8b0bbTest
https://pubmed.ncbi.nlm.nih.gov/28005050Test