Zobrazeno 1 - 10
of 44
pro vyhledávání: '"G E, Rudenskaia"'
Publikováno v:
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 114(5)
RSMD1 is a rare autosomal recessive disorder. Unlike most congenital muscular dystrophies, early motor improvement and normal CPK are typical, while in contrast to structural myopathies there is no specific muscle morphology. Rigid spine, early scoli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::18160d2c7fb7bfb6f6791e56f717fe7f
https://pubmed.ncbi.nlm.nih.gov/24988964
https://pubmed.ncbi.nlm.nih.gov/24988964
Publikováno v:
Vestnik Rossiiskoi akademii meditsinskikh nauk. (12)
Niemann-Pick disease, type C is a rare hereditary disorder of the group of lisosomal storage diseases, caused by mutations in the genes NPC1 or NPC2. Depending on the onset age, several clinical forms of this disease, which differs by manifestation a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9f3f409139db9293ecb8625df311e625
https://pubmed.ncbi.nlm.nih.gov/23530428
https://pubmed.ncbi.nlm.nih.gov/23530428
Publikováno v:
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 112(10)
AOA are autosomal recessive ataxias with a common feature of oculomotor apraxia (OA) - inability to coordinate eye movements. The group includes AOA1 (APTX gene), relatively common AOA2 (SETX gene) and AOA3 (PIK 3R5 gene) described in 2012 in a Saudi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5b0c5ab05d54312c0807d84ec70add19
https://pubmed.ncbi.nlm.nih.gov/23250602
https://pubmed.ncbi.nlm.nih.gov/23250602
Autor:
E A, Ivanova, E L, Dadali, V P, Fedotov, S A, Kurbatov, G E, Rudenskaia, T N, Proskokova, A V, Poliakov
Publikováno v:
Genetika. 48(9)
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f621cb3d1b8c25fac4325483a2d340d8
https://pubmed.ncbi.nlm.nih.gov/23113340
https://pubmed.ncbi.nlm.nih.gov/23113340
Publikováno v:
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 112(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2efbb1529ace46c55795b24be7d4aa7d
https://pubmed.ncbi.nlm.nih.gov/23096048
https://pubmed.ncbi.nlm.nih.gov/23096048
Publikováno v:
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 111(7)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9e4ca60f206f2cceebcc3a7febbd38a5
https://pubmed.ncbi.nlm.nih.gov/21947076
https://pubmed.ncbi.nlm.nih.gov/21947076
Publikováno v:
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 110(3 Suppl 2)
Myoclonic epilepsy of Lafora (EPM2) is a severe autosomal recessive disorder. The onset in adolescence, generalized seizures, severe myoclonus, dementia and a rapid malignant course with death in 4-8 years after the onset are characteristic features
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ade3a22b1d954cd565c879ddfb1cba69
https://pubmed.ncbi.nlm.nih.gov/20873469
https://pubmed.ncbi.nlm.nih.gov/20873469
Publikováno v:
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 110(4)
We present the results of the molecular genetic study of 26 patients, aged from 12 to 60 years, from 24 unrelated families with limb girdle-muscular dystrophy (LGMD) type 2A. The disease duration varied from 6 months to 30 years. The diagnosis of LGM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::35ce9016f4167a96b1ebadbc8183d103
https://pubmed.ncbi.nlm.nih.gov/20517216
https://pubmed.ncbi.nlm.nih.gov/20517216
Autor:
P G, Tsygankova, S V, Mikhaĭlova, E Iu, Zakharova, N A, Pichkur, E S, Il'ina, E A, Nikolaeva, G E, Rudenskaia, E L, Dadali, L M, Kolpakchi, I D, Fedoniuk, G N, Matiushchenko
Publikováno v:
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 110(1)
Syndrome Leigh (SL) or subacute necrotizing encephalomyelopathy - is a rare hereditary genetically heterogeneous disease from the group of mitochondrial encephalomyopathies. Twenty-seven children with SL were examined using clinical, laboratory (meas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9bc4e11e8e09da8a85a3af66b9563d7c
https://pubmed.ncbi.nlm.nih.gov/20436434
https://pubmed.ncbi.nlm.nih.gov/20436434
Autor:
G E, Rudenskaia, S M, Tverskaia, A L, Chukhrova, E V, Zakliaz'minskaia, Iu V, Kuropatkina, E L, Dadali, V S, Perminov, A V, Poliakov
Publikováno v:
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 106(10)
A search for emerin and lamin A/C (LMNA) mutations was performed in a group of 63 unrelated patients with probable Emery-Dreifuss muscular dystrophy (EDMD) and other MD's with concomitant dilated cardiomyopathy (DCMP). Four different emerin mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::26b09cf5f30d255aee855f39e415d720
https://pubmed.ncbi.nlm.nih.gov/17117676
https://pubmed.ncbi.nlm.nih.gov/17117676