Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Galina E. Rudenskaya"'
Autor:
Galina E. Rudenskaya, Varvara A. Kadnikova, Oksana P. Ryzhkova, Nina A. Dyomina, Inna V. Sharkova, Alexander V. Polyakov
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 15, Iss 2, Pp 13-20 (2021)
Introduction. Since 2017, the Research Centre for Medical Genetics has been conducting the first clinical and molecular study in Russia of a heterogeneous spastic paraplegia group based on the MPS high throughput sequencing method. Our group of molec
Externí odkaz:
https://doaj.org/article/a61d816dee3049b39be805c39aa7b9f7
Autor:
Galina E. Rudenskaya, Varvara A. Kadnikova, Oksana P. Ryzhkova, Inga V. Anisimova, Elena L. Dadaly, Nina A. Dyomina, Irina A. Mishina, Ilya V. Kanivets, Anna V. Antonetz, Alexander V. Polyakov
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 14, Iss 4, Pp 29-38 (2020)
Introduction. A heterogeneous group of hereditary spastic paraplegias (HSP) with known causative genes, alongside the predominant autosomal dominant ones, includes numerous and diagnostically more complex autosomal recessive (AR) forms with diverse p
Externí odkaz:
https://doaj.org/article/4140eebb4fc04a26a5c3f2372b904175
Autor:
Galina E. Rudenskaya, Varvara A. Kadnikova, Christian Beetz, Tatyana N. Proskokova, Irina G. Sermyagina, Anna A. Stepanova, Valery P. Fedotov, Elena L. Dadaly, Darya M. Guseva, Тatiana V. Markova, Oksana P. Ryzhkova
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 14, Iss 1, Pp 44-54 (2020)
Introduction. The autosomal dominant hereditary spastic paraplegia type 3 (SPG3), associated with the ATL1 gene, is a common form of the hereditary spastic paraplegia (HSP). The molecular genetic and clinical features of the SPG3 have not been suffic
Externí odkaz:
https://doaj.org/article/cb785b6c298746ea89b96a7bb419e2f1
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 13, Iss 4, Pp 85-90 (2019)
GNE myopathy (Nonaka myopathy) is a rare recessive muscular dystrophy associated with the GNE gene, which is involved in sialic acid synthesis. Typical onset is in the third decade of life with distal weakness of the arms and legs, gradually progress
Externí odkaz:
https://doaj.org/article/aa49a0524a30436aa6cddcfa57a481b9
Autor:
Darya A. Yurchenko, Marina E. Minzhenkova, Elena L. Dadali, Zhanna G. Markova, Galina E. Rudenskaya, Galina N. Matyushchenko, Ilya V. Kanivets, Nadezda V. Shilova
Publikováno v:
Biomedicines, Vol 10, Iss 3, p 567 (2022)
Inverted duplication syndrome with an adjacent terminal deletion of the short arm of chromosome 8—inv dup del(8p)—is a rare complex structural chromosomal rearrangement with a wide range of clinical manifestations. Molecular cytogenetic variants
Externí odkaz:
https://doaj.org/article/8d9a6b2c84534c6195f772851c460bdf
Autor:
Ekaterina R. Lozier, O. A. Shchagina, Nika V. Petrova, Andrey V. Marakhonov, Elena L. Dadali, Galina E Rudenskaya, Irina A Akimova, F. A. Konovalov
Publikováno v:
Journal of Pediatric Genetics. :058-062
Ataxia with oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive, PNKP-related disorder delineated in 2015 in Portugal. We diagnosed AOA4 by next generation sequencing (NGS) followed by Sanger's sequencing in three boys from two unrelated B
Autor:
Galina E, Rudenskaya, Andrey V, Marakhonov, Olga A, Shchagina, Ekaterina R, Lozier, Elena L, Dadali, Irina A, Akimova, Nika V, Petrova, Fedor A, Konovalov
Publikováno v:
J Pediatr Genet
Ataxia with oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive, PNKP -related disorder delineated in 2015 in Portugal. We diagnosed AOA4 by next generation sequencing (NGS) followed by Sanger's sequencing in three boys from two unrelated
The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen’s and Becker’s myotonias
Autor:
Galina E. Rudenskaya, A. V. Polyakov, V. P. Fedotov, E. A. Ivanova, Elena L. Dadali, T. N. Proskokova, S. A. Kurbatov
Publikováno v:
Russian Journal of Genetics. 48:952-961
Thomsen's and Becker's diseases are the most prevalent nondystrophic myotonias. Their frequency varies, according to different sources, from 1 : 100 000 to 1 : 10 000. Thomsen's myotonia is autosomal dominant, and Becker's myotonia is autosomal reces
Autor:
Rita-Eva Varga, Elena Sánchez-Ferrero, Rizwan Mumtaz, Michaela Auer-Grumbach, Christian A. Hübner, Amir Jahic, Christian Beetz, Galina E. Rudenskaya
Publikováno v:
Analytical Biochemistry. 421:799-801
Multiplex ligation-dependent probe amplification (MLPA) has become a standard method for identifying copy number mutations in diagnostic and research settings. The occurrence of false-positive deletion findings and the underlying causes are well reco