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M

M. Renaud

chru nancy
H指数:74
被引数:2.3万

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Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

snRNA基因的系统分析揭示了显性和隐性发育性和癫痫性脑病中常见的RNU2-2变异

2026-03-300
OAAI
Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort

界定SCA27B的致病阈值和表型谱:来自一个大法国-加拿大队列的研究结果

2025-09-200
OAAI
The Two Faces of Pediatric SCA2

SCA2儿科的两种面相

2025-07-310
OAAI
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy

Chelban, V.; Pellerin, D.; Vijiaratnam, N.; Lee, H.; Goh, Y.Y.; Brown, L.; Sambin, S.; Seilhean, D.; Lehericy, S.; Iruzubieta, P.; 等. 内含子FGF14 GAA重复扩展影响多系统萎缩的进展和生存。Brain 2025, 148, 3252–3265. [Google Scholar] [CrossRef]

Brain
IF11.7
2025-04-160
OAAI
Prospects for a survey of the galactic plane with the Cherenkov Telescope Array
2024-10-251
OA
Strong coupling effects on near-barrier 15C+208Pb elastic scattering
2024-08-011
OA
Very-high-energy γ-Ray Emission from Young Massive Star Clusters in the Large Magellanic Cloud
2024-07-190
OA
A deep intronic FGF14 GAA repeat expansion causes late-onset cerebellar ataxia
2023-12-010
PRE
Discovery of a radiation component from the Vela pulsar reaching 20 teraelectronvolts (vol 7, pg 1341, 2023)
2023-11-061
OA
Discovery of a radiation component from the Vela pulsar reaching 20 teraelectronvolts
2023-10-0510
OA
Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family
2023-08-117
PRE
Sensitivity of the Cherenkov Telescope Array to spectral signatures of hadronic PeVatrons with application to Galactic Supernova Remnants
2023-08-019
OAAI