关注
Aysylu Murtazina
Aysylu Murtazina
Research Centre for Medical Genetics
在 med-gen.ru 的电子邮件经过验证
标题
引用次数
引用次数
年份
HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients
OA Shchagina, TB Milovidova, AF Murtazina, GE Rudenskaya, SS Nikitin, ...
Molecular Biology Reports 47 (2), 1331-1337, 2020
222020
Thoracic outlet syndrome: clinical and diagnostic features
AF Murtazina, SS Nikitin, ES Naumova
Neuromuscular Diseases 7 (4), 10-19, 2018
13*2018
Bickerstaff brainstem encephalitis, acute transverse myelitis, and acute motor axonal neuropathy: diagnostic and treatment challenges in patients with concomitant syndromes …
AF Murtazina, ES Naumova, SS Nikitin, LM Boriskina, AV Lagutin
Neuromuscular Diseases 7 (3), 56-62, 2017
12*2017
Conduction block as an electrophysiological phenomenon: a review of the literature
SS Nikitin, AF Murtazina, DS Druzhinin
Neuromuscular Diseases 9 (1), 12-23, 2019
8*2019
Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients
EL Dadali, SS Nikitin, SA Kurbatov, AF Murtazina, IV Sharkova, ...
Neuromuscular Diseases 7 (3), 47-55, 2017
8*2017
The first Russian patient with Native American myopathy
A Murtazina, N Demina, P Chausova, O Shchagina, A Borovikov, E Dadali
Genes 13 (2), 341, 2022
72022
Genetic and clinical spectrum of GNE myopathy in Russia
A Murtazina, S Nikitin, G Rudenskaya, I Sharkova, A Borovikov, P Sparber, ...
Genes 13 (11), 1991, 2022
42022
Electrophysiological techniques for motor unit number estimation
AF Murtazina, AI Belyakova-Bodina, AG Brutyan
Human Physiology 44, 827-837, 2018
4*2018
A case of hereditary motor and sensory neuropathy type IVA with unusual genealogy
SA Kurbatov, TB Milovidova, VP Fedotov, AF Murtazina, GE Rudenskaya, ...
Neuromuscular Diseases 8 (2), 75-83, 2018
4*2018
Клинико-генетические характеристики дистальных артрогрипозов, обусловленных мутациями в гене PIEZO2
ТВ Маркова, ЕЛ Дадали, СС Никитин, АФ Муртазина, ОЛ Миронович, ...
Нервно-мышечные болезни 11 (2), 48-55, 2021
3*2021
Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients
EL Dadali, IV Sharkova, GE Rudenskaya, SS Nikitin, AF Murtazina, ...
Neuromuscular Diseases 9 (3), 56-66, 2019
3*2019
Современные клиникогенетические представления об аутосомнорецессивных наследственных периферических нейропатиях
АФ Муртазина, ОА Щагина, СС Никитин, ЕЛ Дадали, АВ Поляков
Анналы клинической и экспериментальной неврологии 13 (1), 55-69, 2019
32019
Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy
DE Shchagina O, Orlova M, Murtazina A, Filatova A, Skoblov M
Int J Mol Sci 24 (12), 2023
22023
Причины ложной диагностики полимиозита у пациентов с дисферлинопатией: клинический случай
СН Бардаков, АМ Емелин, СС Никитин, АН Хелковская-Сергеева, ...
Нервно-мышечные болезни 12 (4), 73-87, 2022
22022
POLR3A-ассоциированная гипомиелинизированная лейкодистрофия: описание клинического случая и обзор литературы
АФ Муртазина, ТВ Маркова, АА Орлова, ОП Рыжкова, ОА Щагина, ...
Нервно-мышечные болезни 11 (4), 48-54, 2021
2*2021
Surgery for intractable epilepsy in a patient with encephalocele of the temporal lobe: a case report
MS Semenov, AI Belyakova-Bodina, AF Murtazina, AG Brutyan, ...
Zhurnal Voprosy Neirokhirurgii Imeni NN Burdenko 81 (6), 99-102, 2017
22017
Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene
M Sharova, D Guseva, A Kurenkov, O Novoselova, A Murtazina, ...
American Journal of Medical Genetics Part A 188 (10), 3100-3105, 2022
12022
Комплексные геномные перестройки в этиологии «хромосомного фенотипа»
МЕ Миньженкова, ЖГ Маркова, ДА Юрченко, АА Тарлычева, ...
Медицинская генетика 21 (11), 44-47, 2022
12022
Clinical and genetic characteristics of Charcot–Marie–Tooth disease type 4D (type Lom) in Russia
AF Murtazina, OA Shchagina, TB Milovidova, EL Dadali, GE Rudenskaya, ...
Neuromuscular Diseases 10 (2), 39-45, 2020
12020
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients
M Bulakh, D Polyakova, E Dadali, G Rudenskaya, I Sharkova, T Markova, ...
Gene 927, 148680, 2024
2024
系统目前无法执行此操作,请稍后再试。
文章 1–20