Study Of Epidemiological and Clinical Profile of Neurologic Wilson’s Disease from a Tertiary Care Hospital In India
Objective: To study the epidemiological profile of neurologic Wilson’s disease (WD) and to study clinical, biochemical and radiological features of neurologic WD Background: Wilson’s disease…The Impact of Non-Motor Symptoms on Quality of Life in Early Parkinson’s Disease: A Prospective Study
Objective: To assess the prevalence and severity of non-motor symptoms (NMS) in early Parkinson’s disease (PD) and their impact on health-related quality of life (HRQoL).…International Mentorship in PPMI Clinical Translation (IMPaCT): Engagement Initiatives for Clinical Participants in the United States (US)
Objective: Describe cohort engagement strategies conducted by PPMI IMPaCT Program among US participants. Background: Retention in longitudinal studies is vital for study for data integrity/analysis.1…Three Siblings with Progressive Cerebellar Ataxia Associated with a Rare PRKCG Variant
Objective: We report three siblings with late-onset, slowly progressive cerebellar ataxia associated with a c.475G>A (p.Gly159Arg) missense variant in the PRKCG gene. Background: Spinocerebellar ataxia type 14…A Case Report of Two Affected Siblings with Spinocerebellar Ataxia Type 1
Objective: To present a case of two affected siblings with Spinocerebellar ataxia type 1 Background: Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative…Conjugal Parkinsonism
Objective: To report a case of multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) in a couple. Background: Conjugal parkinsonism denotes an entity where…Community Awareness of Parkinson’s Disease as a Driver of Stigma in Kilifi, Kenya
Objective: To gain a holistic understanding of stigma surrounding Parkinson’s disease in Kenya from the perspective of those who are stigmatised, and those who might…The Role of Mitochondrial DNA Haplogroups in determining the Age of Onset in Indian SCA2 Patients.
Objective: To investigate the contribution of mitochondrial DNA (mtDNA) haplogroups to the age at onset (AO) of Spinocerebellar Ataxia type 2 (SCA2) in Indian patients,…Clinical and epidemiological characterization of patients with cerebellar ataxia in a reference center in Northeastern Brazil
Objective: To describe the epidemiological and clinical characteristics of patients with cerebellar ataxia in a Movement Disorders outpatient clinic at a public reference center in…Schindler Disease (a Rare Autosomal Recessive Lysosomal Storage Disorder)
Objective: This case report discusses the diagnostic difficulties and treatment strategies for Schindler disease type III and provides insightful information on its clinical manifestations Background:…
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