Search Results - "Murtazina, A F"

HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients by Shchagina, O. A., Milovidova, T. B., Murtazina, A. F., Rudenskaya, G. E., Nikitin, S. S., Dadali, E. L., Polyakov, A. V.

“…Pathogenic variants in the HINT1 gene lead to hereditary axonopathy with neuromyotonia. However, many studies show that neuromyotonia may remain undiagnosed,…”
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Proximal spinal muscular atrophy 5q in the Republic of North Ossetia – Alania: population-genetic features, diagnostic problems and treatment prospects by Tebieva, I. S., Murtazina, A. F., Artemieva, S. B., Gabisova, Yu. V., Zinchenko, R. A.

“…This study presents the structure and population data of spinal muscular atrophy 5q in the Republic of North Ossetia – Alania. The number of newborns for the…”
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Diversity of VCP-related phenotypes: case report and literature review by Rudenskaya, G. E., Mironovich, O. L., Murtazina, A. F., Shchagina, O. A.

“…Background. Gene VCP encoding multifunctional protein valosin produces a number of rare autosomal dominant late-onset disorders with multiple symptoms…”
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POLR3A-related hypomyelinating leukodystrophy: case report and literature review by Murtazina, A. F., Markova, T. V., Orlova, A. A., Ryzhkova, O. P., Shchagina, O. A., Dadali, E. L.

“…Hypomyelinating leukodystrophies (HL) is a group of genetically heterogeneous neurodegenerative disorders characterized by a lack of brain myelin deposition…”
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Clinical and genetic characteristics of distal arthrogryposis caused by mutations in the PIEZO2 gene by Markova, T. V., Dadali, E. L., Nikitin, S. S., Murtazina, A.  F .,  Mironovich, O. L., Kanivets, I.  V.  

“…Mutations in the PIEZO2 gene, which is involved in the formation of the mechanosensitive cation channel Piezo2, can cause distal arthrogryposis type 3…”
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Electrophysiological Techniques for Motor Unit Number Estimation by Murtazina, A. F., Belyakova-Bodina, A. I., Brutyan, A. G.

“…Various neurological diseases involving motor neurons damage lead to a decrease in the number of functioning motor units (MUs). Accurate estimation of the…”
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Conduction block as an electrophysiological phenomenon: a review of the literature by Nikitin, S. S., Murtazina, A. F., Druzhinin, D. S.

“…Evaluation and interpretation of electrophysiological phenomena often plays an important role in the diagnosis of neuromuscular diseases. Motor nerve…”
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Reasons for misdiagnosis of polymyositis in patients with dysferlinopathy: a clinical case by Bardakov, S. N., Emelin, A. М., Nikitin, S. S., Khelkovskaya-Sergeeva, A. N., Limaev, I. S., Murtazina, A. F., Tsargush, V. A., Gusev, M. V., Safronova, Ya. V., Kaimonov, V. S., Isaev, A. A., Deev, R. V.

“…Differential diagnosis of inflammatory myopathies with hereditary muscular dystrophies accompanied by a secondary inflammatory process is a time‑consuming…”
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Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series by Murtazina, A. F., Tsabay, P. N., Rudenskaya, G. E., Bessonova, L. A., Bostanova, F. M., Guseva, D. M., Sharkova, I. V., Shchagina, O. A., Orlova, A. A., Ryzhkova, O. P., Markova, T. V., Kuchina, A. S., Nikitin, S. S., Dadali, E. L.

“…TRPV4 ‑associated neuromuscular diseases represent a clinical spectrum of neuropathies and motor neuron disorders. To date, 3 phenotypic forms are…”
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Thoracic outlet syndrome: clinical and diagnostic features by Murtazina, A. F., Nikitin, S. S., Naumova, E. S.

“…Since the term “thoracic outlet syndrome” (TOS) has been introduced, there have been disputes about the accuracy of the diagnosis, definition, diagnostic…”
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Clinical and genetic characteristics of Charcot–Marie–Tooth disease type 4D (type Lom) in Russia by Murtazina, A. F., Shchagina, O. A., Milovidova, T. B., Dadali, E. L., Rudenskaya, G. E., Kurbatov, S. A., Fedotova, T. V., Nikitin, S. S., Sparber, P. A., Orlova, M. D., Polyakov, A. V.

“…Introduction . Charcot–Marie–Tooth disease type 4D is a hereditary demyelinating neuropathy, that occurs with the high frequency in patients of Roma origin. It…”
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Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients by Dadali, E. L., Sharkova, I. V., Rudenskaya, G. E., Nikitin, S. S., Murtazina, A. F., Ryzhkova, O. P., Chukhrova, A. L.

“…Clinical and genetic characteristics of 9patients with Nonaka myopathy (GNE-myopathy) from Russia are presented. As a result of exom sequencing, 11 different…”
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Bickerstaff brainstem encephalitis, acute transverse myelitis, and acute motor axonal neuropathy: diagnostic and treatment challenges in patients with concomitant syndromes. Clinical observation by Murtazina, A. F., Naumova, E. S., Nikitin, S. S., Boriskina, L. M., Lagutin, A. V.

“…We report a 40-year-old woman presented with consciousness disturbance, ataxia, asymmetrical limb weakness, hyperreflexia. Due to magnetic resonance imaging…”
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A case of hereditary motor and sensory neuropathy type IVA with unusual genealogy by Kurbatov, S. A., Milovidova, T. B., Fedotov, V. P., Murtazina, A. F., Rudenskaya, G. E., Shchagina, O. A., Polyakov, A. V.

“…Background.  Hereditary motor and sensory neuropathies (HMSN) are a genetically diverse group of disorders of the peripheral nerves characterized by gradual…”
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Diversity of VCP-related phenotypes: case report and literature review by Rudenskaya, G E, Mironovich, O L, Murtazina, A F, Shchagina, O A

“…Abstract Background. Gene VCP encoding multifunctional protein valosin produces a number of rare autosomal dominant late-onset disorders with multiple symptoms…”
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Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients by Dadali, E. L., Nikitin, S. S., Kurbatov, S. A., Murtazina, A. F., Sharkova, I. V., Shchagina, O. A., Konovalov, F. A.

“…Introduction. Hereditary motor and sensory neuropathies are genetically heterogeneous group of disorders characterized by a progressive muscle weakness,…”
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Surgery for intractable epilepsy in a patient with encephalocele of the temporal lobe: a case report by Semenov, M S, Belyakova-Bodina, A I, Murtazina, A F, Brutyan, A G, Golovteev, A L, Aziatskaya, G A, Samoylov, A S, Zabelin, M V, Udalov, Yu D

“…We describe a case of surgical treatment of intractable temporal epilepsy in a female patient with congenital middle cranial fossa encephalocele. We present…”
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Clinical and genetic characteristics of distal arthrogryposis caused by mutations in the PIEZO2 gene by Markova, T V, Dadali, E L, Nikitin, S S, A. F . Murtazina, Mironovich, O L, Kanivets, I V

“…Abstract Mutations in the PIEZO2 gene, which is involved in the formation of the mechanosensitive cation channel Piezo2, can cause distal arthrogryposis type 3…”
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Клинико-генетические характеристики болезни Шарко–Мари–Тута типа 4D (типа Lom) в России by Муртазина, А Ф, Щагина, О А, Миловидова, Т Б, Дадали, Е Л, Руденская, Г Е, Курбатов, С А, Федотова, Т В, Никитин, С С, Спарбер, П А, Орлова, М Д, Поляков, А В, Murtazina, A F, Shchagina, O A, Milovidova, T B, Dadali, E L, Rudenskaya, G E, Kurbatov, S A, Fedotova, T V, Nikitin, S S, Sparber, P A, Orlova, M D, Polyakov, A V

“…Введение. Болезнь Шарко–Мари–Тута типа 4D – наследственная демиелинизирующая нейропатия, встречающаяся с наибольшей частотой у пациентов цыганского…”
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POLR3A-related hypomyelinating leukodystrophy: case report and literature review by Murtazina, A F, Markova, T V, Orlova, A A, Ryzhkova, O P, Shchagina, O A, Dadali, E L

“…Abstract Hypomyelinating leukodystrophies (HL) is a group of genetically heterogeneous neurodegenerative disorders characterized by a lack of brain myelin…”
Get full text