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J

José Luiz Pedroso

Universidade Federal de Sao Paulo
H指数:32
被引数:4,912

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Should Huntington's Disease Remains the First Genetic Consideration in Adults Presenting with Combined Chorea and Ataxia in Resource-Limited Settings?

亨廷顿病是否应作为资源有限环境下出现共济失调和舞蹈症的成人患者的首要遗传学考虑因素?

2026-10-280
PRE
Unraveling SPG46: Clinical, Genetic, and Neuroimaging Features

揭示SPG46:临床、遗传和神经影像学特征

2026-09-210
PRE
A journey through the anatomy of the cerebellum

小脑解剖学之旅

2025-12-010
OA
Letter to the editor: Expanding the prion disease spectrum - frontotemporal dementia from a novel PRNP frameshift variant

致编辑函:扩展朊病毒疾病谱——源自一种新型PRNP移码变异的前额颞叶痴呆

2025-11-140
PRE
Molecular Analysis through Whole Exome Sequencing in Ataxia Telangiectasia Patients: Beyond ATM

通过全外显子组测序对共济失调毛细血管扩张症患者进行分子分析:ATM之外

2025-11-040
PRE
Drinking Tremor

震颤性震颤

2025-10-150
OAAI
Neuroimaging in Cerebellar Ataxias: A Diagnostic Approach

小脑共济失调的神经影像学:一种诊断方法

2025-09-130
PRE
Longitudinal Evaluation of Ataxia and Brain Structural Changes in RFC1-Related Disorder

RFC1相关疾病的共济失调及脑结构变化的纵向评估

2025-09-040
OAAI
Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches

解析遗传性共济失调的全球图景:流行病学与基因检测方法

2025-07-180
OA
Pendular Nystagmus: a Novel Feature of ANO10-Related Disorders

钟摆型眼球震颤:ANO10相关疾病的一种新型特征

2025-03-250
PRE
NDUFAF5 variants cause early onset Leigh syndrome

NDUFAF5变异导致早发型Leigh综合征

2025-02-011
PRE