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Riccardo Curró

institute of psychiatry & neurology
H指数:12
被引数:780

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荣誉奖项

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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由于SORD基因突变导致的Charcot-Marie-Tooth疾病的基因型与表型谱

BRAIN
IF11.7
2025-08-013
OAAI
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry (vol 15, 6327, 2024)
2024-10-170
OAAI
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
2024-07-272
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
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum

血清神经丝轻链在复制因子复合物亚基1的画布和疾病谱

2023-12-062
OAAI
Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
2023-12-011
OAAI
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis

RFC1重复扩增的正常和致病性变异: 对临床诊断的意义

BRAIN
IF11.7
2023-07-1432
OAAI
Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
2023-06-3023
OAAI
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
2023-01-3131
OAAI
RFC1 expansions are a common cause of idiopathic sensory neuropathy

RFC1扩张是特发性感觉神经病的常见原因

BRAIN
IF11.7
2021-05-0972
OAAI
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic

RNF170的突变导致前庭反射的感觉共济失调性神经病: 画布模拟

2020-09-1712
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