Autosomal recessive spinocerebellar ataxia type 10: a case report in Mexico
Objective: To provide a comprehensive description of the first clinical case of SCAR10 diagnosed in Mexico. Background: The autosomal recessive spinocerebellar ataxia type 10 is…Theory of mind in patients with cerebellar neurodegenerative disorders
Objective: The aim of this study was to investigate theory of mind (ToM) in patients with different cerebellar neurodegenerative disorders (CD). Background: CD are a…HSP-SPG5A/CYP7B1: unusual clinical and genetic characteristics in an Indian family
Objective: To carry out a clinical and genetic study of a large Indian family emigrated in Italy with autosomal dominant hereditary spastic paraplegia (ADHSP). Background:…Characterizing Racial and Ethnic Diversity Among Enroll-HD Participants in the US and Canada
Objective: To characterize racial and ethnic diversity among Huntington’s disease (HD) gene expansion carriers (GECs) in the Enroll-HD study in the US and Canada. Background:…Cost of Predictive Genetic Testing for Huntington’s Disease at Centers of Excellence in the US
Objective: To characterize the cost of Huntington’s disease predictive genetic testing at Centers of Excellence in the US. Background: Despite the availability of predictive genetic…Spinal Excitability and Plasticity in Hereditary Spastic Paraparesis: A Neurophysiological Study
Objective: To investigate spinal excitability and plasticity in patients with pure hereditary spastic paraparesis (HSP). Background: Pure HSP (SPG4) is a neurodegenerative disorder characterized by…EIF4G1 gene variants in a family affected by Parkinson´s disease
Objective: Describe a novel mutation on a family affected by Parkinson´s disease. Background: 46 years old woman. She came to hospital complaining about tremor and…Genotypic and phenotypic spectrum of PINK-1 associated parkinsonism in 44 mutation carriers from 11 Tunisian families
Objective: To characterize the family history and clinical features of mutations of the PINK-1 gene in a cohort of Tunisian patients with Parkinson disease (P.D)…Familial Parkinson’s disease (PD) with anticipation phenomenon. Undescribed variant in the LRRK2 gene (c.4001G> A (p.Arg1334Gln))
Objective: We describe a family with 4 members affected by PD, carrying a new variant of the LRRK2 gen, with anticipation phenomenon in succeding generation.…Homozygous PRKN exon 3 deletion in an early-onset Parkinson’s disease family from the Kadazan-Dusun ethnic group indigenous to Sabah, Malaysia
Objective: To determine the causal gene for early-onset Parkinson’s disease (PD) in a Malaysian family of Kadazan-Dusun ethnicity. Background: Among Asian populations, relatively little is…
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