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1دورية أكاديمية
المؤلفون: Fatima M. Bostanova, Polina G. Tsygankova, Elena A. Larshina, Ilya O. Nagornov, Yulia V. Evseeva, Irina L. Krutikhina, Marina E. Dzhentemirova, Marina N. Kashlakova, Marina S. Petukhova, Inna V. Sharkova, Ekaterina Y. Zakharova
المصدر: Genes, Vol 15, Iss 5, p 615 (2024)
مصطلحات موضوعية: leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL), the DARS2 gene, white matter disorder, targeted gene sequencing, next-generation sequencing (NGS), Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Inna V. Sharkova, Maria V. Bulakh, Liudmila А. Bessonova, Olga A. Shchagina, Elena L. Dadaly
المصدر: Анналы клинической и экспериментальной неврологии, Vol 15, Iss 3, Pp 85-91 (2021)
مصطلحات موضوعية: limb-girdle muscular dystrophy, autosomal recessive lgmd, calpainopathy, calpain-3-related muscular dystrophy, capn3 gene, pseudodominant inheritance, case report, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: https://annaly-nevrologii.com/journal/pathID/article/viewFile/762/592Test; https://doaj.org/toc/2075-5473Test; https://doaj.org/toc/2409-2533Test
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3دورية أكاديمية
المؤلفون: Galina E. Rudenskaya, Varvara A. Kadnikova, Oksana P. Ryzhkova, Nina A. Dyomina, Inna V. Sharkova, Alexander V. Polyakov
المصدر: Анналы клинической и экспериментальной неврологии, Vol 15, Iss 2, Pp 13-20 (2021)
مصطلحات موضوعية: hereditary spastic paraplegia, spg7, spg76, mutations, massive parallel sequencing (mps), phenotypes, ataxia, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: https://annaly-nevrologii.com/journal/pathID/article/viewFile/742/573Test; https://doaj.org/toc/2075-5473Test; https://doaj.org/toc/2409-2533Test
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4
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