日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

DNA Methylation Status of Regulatory Regions of Apoptosis-Associated Genes in Dystropy «Huntington's Disease-Non-Small Cell Lung Cancer»

营养不良症(亨廷顿病-非小细胞肺癌)中凋亡相关基因调控区域的DNA甲基化状态

Babushkina, Nadezhda P; Bragina, Elena Yu; Gomboeva, Densema E; Koroleva, Iuliia A; Illarioshkin, Sergey N; Klyushnikov, Sergey A; Abramycheva, Nataliya Yu; Nikitina, Maria A; Alifirova, Valentina M; Litviakov, Nikolai V; Ibragimova, Marina K; Tsyganov, Matvey M; Tsydenova, Irina A; Zarubin, Aleksei A; Goncharova, Irina A; Golubenko, Maria V; Salakhov, Ramil R; Sleptcov, Aleksei A; Kucher, Aksana N; Nazarenko, Maria S; Puzyrev, Valery P

Corrigendum: Neurophysiological hallmarks of Huntington's disease progression: an EEG and fMRI connectivity study

更正:亨廷顿病进展的神经生理学特征:一项脑电图和功能磁共振成像连接性研究

Ponomareva, Natalya V; Klyushnikov, Sergey A; Abramycheva, Natalia; Konovalov, Rodion N; Krotenkova, Marina; Kolesnikova, Ekaterina; Malina, Daria; Urazgildeeva, Gusel; Kanavets, Elena; Mitrofanov, Andrey; Fokin, Vitaly; Rogaev, Evgeny; Illarioshkin, Sergey N

Genetic Variant in GRM1 Underlies Congenital Cerebellar Ataxia with No Obvious Intellectual Disability

GRM1基因变异是先天性小脑共济失调的根本原因,且无明显智力障碍

Protasova, Maria S; Andreeva, Tatiana V; Klyushnikov, Sergey A; Illarioshkin, Sergey N; Rogaev, Evgeny I

Neurophysiological hallmarks of Huntington's disease progression: an EEG and fMRI connectivity study

亨廷顿病进展的神经生理学特征:一项脑电图和功能磁共振成像连接性研究

Ponomareva, Natalya V; Klyushnikov, Sergey A; Abramycheva, Natalia; Konovalov, Rodion N; Krotenkova, Marina; Kolesnikova, Ekaterina; Malina, Daria; Urazgildeeva, Gusel; Kanavets, Elena; Mitrofanov, Andrey; Fokin, Vitaly; Rogaev, Evgeny; Illarioshkin, Sergey N

Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia

罕见早发性共济失调伴小脑发育不全病例中携带突变的新基因

Protasova, Maria S; Gusev, Fedor E; Andreeva, Tatiana V; Klyushnikov, Sergey A; Illarioshkin, Sergey N; Rogaev, Evgeny I

Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C

常见多态性和罕见同义变异的累加效应改变了尼曼-匹克病C型双胞胎患者的剪接。

Bychkov, Igor; Filatova, Alexandra; Perelman, Grigory; Proshlyakova, Tatiana; Korotkova, Daria; Klyushnikov, Sergey; Karpova, Maria; Tabakov, Vyacheslav; Baydakova, Galina; Ilyushkina, Alexandra; Skoblov, Mikhail; Zakharova, Ekaterina

STIM2 Mediates Excessive Store-Operated Calcium Entry in Patient-Specific iPSC-Derived Neurons Modeling a Juvenile Form of Huntington's Disease

STIM2 介导患者特异性 iPSC 衍生神经元中过量的钙池操纵钙离子内流,模拟青少年亨廷顿氏病

Vladimir A Vigont, Dmitriy A Grekhnev, Olga S Lebedeva, Konstantin O Gusev, Egor A Volovikov, Anton Yu Skopin, Alexandra N Bogomazova, Lilia D Shuvalova, Olga A Zubkova, Ekaterina A Khomyakova, Lyubov N Glushankova, Sergey A Klyushnikov, Sergey N Illarioshkin, Maria A Lagarkova, Elena V Kaznacheyeva

A methodological approach for botulinum neurotoxin injections to the longus colli muscle in dystonic anterocollis: A case series of 4 patients and a literature review

肌张力障碍性前倾颈长肌肉毒素注射治疗的方法学研究:4例病例系列及文献综述

Seliverstov, Yury; Arestov, Sergey; Klyushnikov, Sergey; Shpilyukova, Yuliya; Illarioshkin, Sergey

Manifestation of Huntington's disease pathology in human induced pluripotent stem cell-derived neurons

人类诱导性多能干细胞衍生的神经元中亨廷顿氏病病理的表现

Evgeny D Nekrasov, Vladimir A Vigont, Sergey A Klyushnikov, Olga S Lebedeva, Ekaterina M Vassina, Alexandra N Bogomazova, Ilya V Chestkov, Tatiana A Semashko, Elena Kiseleva, Lyubov A Suldina, Pavel A Bobrovsky, Olga A Zimina, Maria A Ryazantseva, Anton Yu Skopin, Sergey N Illarioshkin, Elena V Kazn

Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry

全基因组测序在一个蒙古族大家族中发现了一种新的ABCB7基因突变,该突变与X连锁先天性小脑共济失调有关。

Protasova, Maria S; Grigorenko, Anastasia P; Tyazhelova, Tatiana V; Andreeva, Tatiana V; Reshetov, Denis A; Gusev, Fedor E; Laptenko, Alexander E; Kuznetsova, Irina L; Goltsov, Andrey Y; Klyushnikov, Sergey A; Illarioshkin, Sergey N; Rogaev, Evgeny I