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Salvatore Rossi

Università Cattolica del Sacro Cuore
H指数:15
被引数:1,211

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Validation of a Cellular Imaging-Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

基于细胞成像的方法作为SPG4遗传性痉挛性截瘫痹潜在生物标志物的验证

2026-09-050
OAAI
Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience

胼胝体发育不全伴皮质下囊肿:一项意大利多中心研究经验

2026-01-020
PRE
Dystonia and Ataxia Associated with Brain Iron Accumulation: Expanding the Phenotype of NPTX1-Spinocerebellar Ataxia 50

脑铁沉积相关的肌张力障碍和共济失调:扩展NPTX1-脊髓小脑共济失调50的临床表型

2025-09-160
OAAI
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

重复扩增大小在预测RFC1疾病发病年龄和严重程度中的作用

BRAIN
IF11.7
2024-01-097
OAAI
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFCI repeat expansion

由于RFCI重复扩张引起的小脑共济失调,神经病,前庭反射综合征

BRAIN
IF11.7
2020-02-10153
OAAI
Reply to the letter entitled Predictors of respiratory impairment in patients with myotonic dystrophy type 1
2019-08-010
PREAI
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

AMPA受体GluA2亚基缺陷是神经发育障碍的一个原因

2019-07-12159
OAAI
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study
2019-04-0130
OAAI