Search Results - "Saifullina, E V"

Leukoencephalopathy with vanishing white matter caused by EIF2B5 gene mutations: a case report by Saifullina, E. V., Gaysina, E. V., Magzhanov, R. V., Yalaev, A. A., Nagornov, I. O.

“…Leukoencephalopathy with vanishing white matter (VWM disease) is a progressive neurodegenerative disease with a specific magnetic resonance pattern…”
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Clinical and epidemiological characteristics of hereditary motor-sensory neuropathy 1X caused by the mutation c. 259C> G (p. P87A) in the GJB1 gene of patients from the Republic of Bashkortostan by Saifullina, E V, Magzhanov, R V, Khidiyatova, I M, Khusnutdinova, E K

“…Hereditary motor-sensory neuropathy 1X (НМСН 1X) is the second frequent form of hereditary motor-sensory neuropathies caused by mutations in the GJB1 gene (gap…”
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Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families by Mikhailova, S. V., Saifullina, E. V., Baranova, P. V., Vorontsova, V. P.  , Gribov, D.  I.  , Zhivihina, M.   V., Slatetskaya, A. N.  , Magzhanov, R.  V.  , Samokhvalov, V. A. ,  Virtseva, M.  N., Borscheva, L.     P.,  Koh, E.  E.,  Novikova, M.   V., Abrukova, A. V.  , Belyashova, E.     Yu, Gerasimenko, N.    Yu, Guseva, L.     V., Yukhimenko, Zh.     V., Nikitina, N.     V., Belyaeva, T.  I.  ,  Shkurko, T.   A.,  Pichkur, N.   A., Kakaulina, V.     S., Pechatnikova, N.   L., Polyakova, N .  A., Korostelev, S.    A., Pyankov, D.    V., Kanivets, I.   V.,  Demina, N.   A., Pyrkova, E.     Yu, Baidakova, G.     V., Kurkina, M.    V.,  Zakharova, E.   Yu

“…Background. Glutaric aciduria type 1 is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the enzyme glutaryl‑CoA…”
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Analysis of primary diagnostics of hereditary motor and sensory neuropathies in the Republic of Bashkortostan by Saifullina, E. V., Magzhanov, R. V., Khidiiatova, I. M., Khusnutdinova, E. K.

“…Background. Hereditary motor and sensory neuropathies (HMSN, Charcot–Marie–Tooth disease) form genetically heterogenous and clinically polymorphic group of…”
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Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia by Akhmetgaleyeva, A. F., Khidiyatova, I. M., Saifullina, E. V., Idrisova, R. F., Magzhanov, R. V., Khusnutdinova, E. K.

“…Hereditary spastik paraplegias (HSP) are a group of neurodegenerative disorders with primary lesion of the pyramidal tract. The most frequent autosomal…”
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The rate of free-radical oxidation in hereditary motor-sensor neuropathies and myotonic dystrophy by Saĭfullina, E V, Magzhanov, R V, Farkhutdinov, R R

“…The rate of free-radical oxidation in the blood of patients with hereditary motor-sensor neuropathies (HMSN) and myotonic dystrophy (MD) type I was evaluated…”
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MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic by Khidiyatova, I. M., Skachkova, I. A., Saifullina, E. V., Magzhanov, R. V., Schagina, O. A., Zinchenko, R. A., Petrin, A. N., Khusnutdinova, E. K.

“…Hereditary motor and sensory neuropathy (HMSN) type IIA is caused by mutations in the mitofusin type-2 ( MFN2 ) gene and represents one of the most common…”
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Glutaric aciduria type 1 in children. Clinical presentation of 46 cases in Russian families by Mikhailova, S V, Saifullina, E V, Baranova, P V, Vorontsova, V P, Gribov, D I, Zhivihina, M V, Slatetskaya, A N, Magzhanov, R V, Samokhvalov, V A, Virtseva, M N, Borscheva, L P, Koh, E E, Novikova, M V, Abrukova, A V, E. Yu. Belyashova, N. Yu. Gerasimenko, Guseva, L V, Yukhimenko, Zh V, Nikitina, N V, Belyaeva, T I, Shkurko, T A, Pichkur, N A, Kakaulina, V S, Pechatnikova, N L, N . A. Polyakova, Korostelev, S A, Pyankov, D V, Kanivets, I V, Demina, N A, E. Yu. Pyrkova, Baidakova, G V, Kurkina, M V, E. Yu. Zakharova

“…Abstract Background. Glutaric aciduria type 1 is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the enzyme glutaryl‑CoA…”
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Amyotrophic lateral sclerosis associated with a new pathogenic variant of the ERBB4 gene by Pervushina, E V, Kutlubaev, M A, Saifullina, E V, Gaisina, E V, Smakova, L A, Khidiyatova, I M

“…Amyotrophic lateral sclerosis (ALS) is a sporadic disease in most of the cases; in 10-15% of cases genetic forms are recorded. A genetic form of ALS associated…”
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Analysis of ATL1 Gene Mutations and Clinical Features of the Disease Course in Patients with Hereditary Spastic Paraplegia by Khidiyatova, I. M., Saifullina, E. V., Karunas, A. S., Akhmetgaleyeva, A. F., Kutlubaeva, R. F., Smakova, L. A., Lobov, S. L., Polyakov, A. V., Shchagina, O. A., Kadnikova, V. A., Ryzhkova, O. P., Magzhanov, R. V., Khusnutdinova, E. K.

“…Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders with a predominant lesion of the pyramidal tract. The autosomal dominant form of…”
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Major Mutation in the SPAST Gene in Patients with Autosomal Dominant Spastic Paraplegia from the Republic of Bashkortostan by Khidiyatova, I. M., Akhmetgaleyeva, A. F., Saifullina, E. V., Idrisova, R. F., Yankina, M. A., Shavalieva, V. V., Magzhanov, R. V., Khusnutdinova, E. K.

“…Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders with a predominant lesion of the pyramidal tract. To date, mutations responsible…”
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Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia by Akhmetgaleyeva, A F, Khidiyatova, I M, Saifullina, E V, Idrisova, R F, Magzhanov, R V, Khusnutdinova, E K

“…Hereditary spastik paraplegias (HSP) are a group of neurodegenerative disorders with primary lesion of the pyramidal tract. The most frequent autosomal…”
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A clinical case of adult onset Niemann–Pick disease type C by E. V. Saifullina, R. V. Magzhanov, A. K. Mardanova, T. Yu. Proshlyakova, E. Yu. Zakharova, S. A. Klyushnikov, S. N. Illarioshkin

“…The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage…”
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MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic by Khidiyatova, I M, Skachkova, I A, Saifullina, E V, Magzhanov, R V, Schagina, O A, Zinchenko, R A, Petrin, A N, Khusnutdinova, E K

“…Hereditary motor and sensory neuropathy (HMSN) type IIA is caused by mutations in the mitofusin type-2 (MFN2) gene and represents one of the most common axonal…”
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Анализ первичной диагностики наследственных моторно-сенсорных нейропатий в Республике Башкортостан by Сайфуллина, Е В, Магжанов, Р В, Хидиятова, И М, Хуснутдинова, Э К, Saifullina, E V, Magzhanov, R V, Khidiiatova, I M, Khusnutdinova, E K

“…Введение. Наследственные моторно-сенсорные нейропатии (НМСН, болезнь Шарко–Мари–Тута) – генетически гетерогенная и клинически полиморфная группа заболеваний с…”
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Cognitive disorders in patients with myotonic dystrophy type I: a clinical and magnetic resonance study by Magzhanov, R V, Saĭfullina, E V, Mukhametova, R R, Mukhamedrakhimov, R R

“…We studied 20 patients with myotonic dystrophy (MD) type I, mean age 34.4±12.3 years. A control group consisted of 10 healthy people, mean age 35.2±13.7 years…”
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