SCA48: Ataxia Plus Chorea in a New Spanish Family
Objective: To describe a new family with Spinocerebellar Ataxia 48 (SCA48) characterized by ataxia and mild chorea as the most prominent initial symptoms as well…Axial myoclonus and cerebellar ataxia in a patient with mutation in ADCK3
Objective: We herein report a 20 years old female, who presented with axial myoclonus, dysarthria and gait ataxia. Background: Autosomal recessive ataxias are a group…Characterization of ataxia in Sjogren’s syndrome
Objective: This study aimed to characterize the pattern of ataxia in Sjogren’s syndrome and also to describe cerebellar ataxia and cerebellar atrophy in some of…Spinocerebellar Ataxia Type 3 Presenting with Motor Neuron Disease
Objective: Spinocerebellar ataxia type 3 (SCA3) is associated with a wide spectrum of clinical manifestations, including peripheral neuropathy and amyotrophy, in addition to other motor…The genetic study of autosomal dominant spinocerebellar ataxia in Kazakhstan
Objective: To perform the genetic study of autosomal dominant spinocerebellar ataxia (ADSCA) cases from Kazakhstan. Background: Spinocerebellar ataxias (SCAs) is a large group of hereditary…Whole exome sequencing in patients with undiagnosed ataxia in a Korean population
Objective: To investigate genetic causes of cerebellar ataxia in Korea using whole exome sequencing (WES) Background: Cerebellar ataxia encompasses a number of neurological conditions with…Novel Mutation in the Protein Kinase C Gamma Gene Causing Spinocerebellar Ataxia-14 in a Large Family
Objective: To report a novel mutation not been previously reported in large, multi-ethnic general populations, in the protein kinase C gamma (PRKCG) gene causing spinocerebellar ataxia…Prevalence and Clinical Profile of Common Spinocerebellar Ataxia in Malaysia
Objective: To describe prevalence and demographics of Spinocerebellar Ataxia (SCA) 1,2,3,6 and 7, and the phenotypic characteristics of SCA 3 patients in Malaysia. Background: Spinocerebellar…Clinical characterization and disease progression in spinocerebellar ataxia type 35: A case series
Objective: To characterize the clinical presentation and disease progression of patients with spinocerebellar ataxia type 35 (SCA35). Background: Mutations in TGM6 have been identified to…Downbeat nystagmus and progressive ataxia mimicking a neurodegenerative disease: a specific phenotype of Chiari malformation
Objective: Case Report. Background: Chiari malformation type 1 (CM1) is a congenital neurological disease with posterior fossa hypoplasia and the cerebellar tonsils being forced through…
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