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Aurélie Méneret

Institut du Cerveau
H指数:33
被引数:3,071

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Paroxysmal Kinesigenic Dyskinesia and Progressive Ataxia-Spasticity Syndrome Caused by a Biallelic Variant in KCNJ10

阵发性运动诱发性运动障碍和进行性共济失调-痉挛性综合征由<i>KCNJ10</i>基因的双等位基因变异引起

2026-09-220
OAAI
Distinct Brain Drivers and Shared Cerebello–Cortical Input in ADCY5 and SGCE Hyperkinetic Movements

ADCY5和SGCE运动障碍中不同的脑驱动因素和共享的小脑-皮质输入

2026-04-300
OAAI
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

FGF13的A异构体中的错义变异作为阵发性运动障碍的新型病因

2026-03-110
OAAI
No role of intronic expansions in HSF1 for essential tremor in Europe

欧洲Essential tremor与HSF1内含子扩张无关

Brain
IF11.7
2026-02-100
PRE
Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD-ADCY5)
2026-01-300
OAAI
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review

揭示MYH2相关肌病:来自病例系列和系统综述的组织学-遗传学见解

2025-11-180
OA
Abnormal Connectivity of the Head Neural Integrator in Cervical Dystonia

颈肌张力障碍患者头部神经积分器的异常连接

2025-09-050
OAAI
Atypical ADCY5-related movement disorders: Highlighting adolescent/ adult-onset cervical dystonia

非典型ADCY5-related运动障碍: 突出青少年/成人发作的颈椎肌张力障碍

2025-03-010
PRE
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

FGF14 GAA扩张导致小脑共济失调的临床和遗传关键

2024-01-0115
OAAI