Need of next generation sequencing technology to de-convolute autosomal recessive cerebellar ataxias in India
Objective: Comparison of two next generation platform to screen ARCA patients in Indian population Background: India is deficient with the molecular screening of the ARCAs.…Spinocerebellar degeneration in Minami-Boso area of Japan – A hospital-based retrospective analysis
Objective: Elucidate the present status of clinical practice for spinocerebellar degeneration (SCD) in Minami-Boso area to plan future direction for managing this intractable condition. Background:…Sex-specific effect of ATXN2 rs7969300 polymorphism on age at onset in Spinocerebellar Ataxia type 2
Objective: To assess the influence of SNP rs7969300 within ATXN2 locus on the age of onset in patients with Spinocerebellar Ataxia type 2. Background: It…Survival estimates for Spinocerebellar Ataxia type 2 based on age at onset and CAG repeats length
Objective: To obtain survival estimates for SCA2 patients based on the age at onset and CAG repeats length . Background: Spinocerebellar ataxia type 2 (SCA2)…Two novel ANO10 mutations causing adult-onset autosomal recessive spinocerebellar ataxia
Objective: Clinical and genetic characterization of a patient Background: In recent years mutations more than 100 different genes have been shown to underlie spinocerebellar ataxias.…Clinical and molecular features of a Chinese family with spinocerebellar ataxia type 6
Objective: To evaluate the clinical manifestation, CAG repeats of abnormal alleles, mitochondrial function and treatment of spinocerebellar ataxia type 6To evaluate the clinical manifestation, CAG…Distinct abnormality of movement-related cortical potential between patients with Holmes tremor and cerebellar degeneration
Objective: This study aims to investigate the role of cerebellum and the olivodentatorubral pathway in generating movement-related cortical potential (MRCP). Background: Cerebellum and its connecting…Cortical and brainstem neurodegeneration associate with the clinical severity in spinocerebellar ataxia patients
Objective: The aim of the study was to know the association of degree of atrophy in brain areas with clinical severity in SCA patients. Background:…Urinary symptoms and Urodynamic findings in patients with SCAs and DRPLA
Objective: To investigate the lower urinary tract symptoms (LUTS) and findings of the urodynamic study (UDS) in patients with spinocerebellar ataxia (SCA) and dentatorubral pallidoluysian…Hearing Evaluation (Peripheral and Central) in Patients with Sporadic Ataxia
Objective: To describe the audiological and electrophysiological results in patients with sporadic ataxia. Background: Patients with progressive non-familial adult ataxia are classified into a sporadic…
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