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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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المؤلفون: Elena L. Dadaly, O. A. Shchagina, Liudmila А. Bessonova, Inna V. Sharkova, Maria V. Bulakh
المصدر: Annals of Clinical and Experimental Neurology. 15:85-91
مصطلحات موضوعية: musculoskeletal diseases, Genetics, Proband, medicine.medical_specialty, Mutation, Autosome, Biology, medicine.disease_cause, medicine.disease, Compound heterozygosity, Neurology, Molecular genetics, medicine, Neurology (clinical), Muscular dystrophy, Gene, Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8496c008e39c0fd70d72c0626029483dTest
https://doi.org/10.54101/acen.2021.3.10Test -
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المؤلفون: Nikolay V. Zernov, Mikhail Skoblov, Elena L. Dadali, Vyacheslav Tabakov, Andrey V. Marakhonov, Inna V. Sharkova
المصدر: Gene. 672:165-171
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Contracture, Ullrich congenital muscular dystrophy, DNA Mutational Analysis, Collagen Type VI, Biology, Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, Collagen VI, Genetics, medicine, Humans, Allele, Child, Myopathy, Gene, Cells, Cultured, Exome sequencing, Sclerosis, Base Sequence, Bethlem myopathy, General Medicine, medicine.disease, Molecular biology, Extracellular Matrix, Pedigree, 030104 developmental biology, Molecular Diagnostic Techniques, Codon, Nonsense, Female, medicine.symptom, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb2b3e2cb630ebf81ef1d7db16d953dcTest
https://doi.org/10.1016/j.gene.2018.06.026Test -
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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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المؤلفون: Alexandra Filatova, Inna V. Sharkova, Andrey V. Marakhonov, Mikhail Skoblov, Peter Sparber
المصدر: Neurogenetics. 19(4)
مصطلحات موضوعية: 0301 basic medicine, Republic of Belarus, Neurodegeneration with brain iron accumulation, Iron, RNA Splicing, DNA Mutational Analysis, Neuroaxonal Dystrophies, Substantia nigra, Biology, Mitochondrial Proteins, 03 medical and health sciences, Cellular and Molecular Neuroscience, Exon, 0302 clinical medicine, Genetics, medicine, Humans, Protein Isoforms, Child, Gene, Genetics (clinical), Exome sequencing, Neurodegeneration, Brain, medicine.disease, Iron Metabolism Disorders, Magnetic Resonance Imaging, Pedigree, 030104 developmental biology, Globus pallidus, RNA splicing, Female, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c6ba234a6f5c498dedc758b3a82b7d8Test
https://pubmed.ncbi.nlm.nih.gov/30392167Test -
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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