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MSA-C is the predominant clinical phenotype of MSA in Japan: Analysis of 142 patients with probable MSA
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma.
The observation that all 4 PRKCG mutations identified in patients with SCA to date are located in exon 4 suggests a critical role for this region of the gene in cerebellar function, and document that SCA14 is caused by mutations in the PR KCG gene.
Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial
Association of vitamin D receptor gene polymorphism with multiple sclerosis in Japanese
Positional vertigo and macroscopic downbeat positioning nystagmus in spinocerebellar ataxia type 6 (SCA6)
The findings indicated that DPN is a distinct part of the clinical presentation of SCA 6, showing that vestibular cerebellum is more affected in SCA6 than other types of degenerative ataxia.
Mutations in COQ2 in familial and sporadic multiple-system atrophy.
Functionally impaired variants of COQ2 were associated with an increased risk of multiple-system atrophy in multiplex families and patients with sporadic disease, providing evidence of a role of impaired COQ1 activities in the pathogenesis of this disease.
Usefulness of the Scale for Assessment and Rating of Ataxia (SARA)
Vitamin D receptor gene polymorphism in multiple sclerosis and the association with HLA class II alleles
Secretion of DJ-1 into the serum of patients with Parkinson's disease
3D neuromelanin-sensitive magnetic resonance imaging with semi-automated volume measurement of the substantia nigra pars compacta for diagnosis of Parkinson’s disease
The 3D turbo field echo sequence can distinguish the PD group from the control group with high sensitivity and specificity, especially for early stage of PD.