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Marios Hadjivassiliou

sheffield teaching hospitals nhs trust
H指数:63
被引数:1.6万

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Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

palindrome-mediated 16p13.3 triplications 导致一种伴有共济失调的可识别的神经退行性疾病

2025-12-040
OAAI
Clinical characteristics, cerebellar MR spectroscopy and response to 3,4-diaminopyridine in spinocerebellar ataxia 27B: the Sheffield Ataxia Centre experience

临床特征、小脑磁共振波谱分析及3,4-二氨基吡啶的治疗反应:谢菲尔德共济失调中心的经验

2025-10-090
OA
Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series

RFC1和FGF14重复扩展的三个欧洲患者晚期小脑共济失调:一个病例系列

2025-07-100
PRE
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
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
BRAIN
IF11.7
2024-06-170
PRE