-
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
-
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
-
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