A study of Mutation in ATP7B gene and its correlation with clinical phenotype and radiological features in patients of Wilson Disease-a population based study in a tertiary care institute in eastern India
Objective: The present study was aimed at exploring the mutation profile of Eastern Indian Wilson’s Disease (WD) patients and analyzing the effect of mutations by…Expanding the Phenotype of KCNA2 Mutation: Tics and Stereotypies
Objective: To report a case of KCNA2 mutation variant with tics. Background: Mutations in the KCNA2 gene impact the function of a voltage-gated potassium channel…Internal pallidum stimulation reduces mobile generalized dystonia in Wilson’s disease
Objective: Globus Pallidus internus (GPi) deep brain stimulation (DBS) is established in treatment of dystonia. We evaluated safety and efficacy of bilateral GPi stimulation in…Increased level of a lysosomal phospholipid, BMP, in urine of LRRK2 G2019S mutation carriers with or without Parkinson’s disease: implications for therapeutic development
Objective: To study alterations in urinary phospholipids as biomarkers of LRRK2 mutations and Parkinson’s disease (PD) status. Background: LRRK2 mutations are a common cause of…The influence of gender, associated neurological disorder and motive for polysomnography (PSG) in the manifestations of REM sleep behaviour disorder (RBD)
Objective: To access the interrelation and relative influence of gender, associated neurological disorder and context of referral to PSG on the manifestations of (RBD). Background:…Restless leg syndrome in Neuro-Behcet’s and Behcet’s disease
Objective: The goal of this study is the comparison of the restless leg syndrome frequency in the BD and NBD patients and also to investigate…An Experimental Study to Assess the Professional and Social Consequences of Tardive Dyskinesia
Objective: Evaluate the impact of orofacial tardive dyskinesia (TD) symptoms on the professional and social lives of patients with TD. Background: TD, a movement disorder…The influence of relationship quality on health-related quality of life when coping with Parkinson’s disease: a mediation analysis
Objective: To explore motor and non-motor symptoms (NMS) influence on relationship quality (mutuality) and health-related quality of life (HRQoL) when one in the dyad is…Understanding the Needs and Concerns of Newly Diagnosed People with Parkinson’s Disease
Objective: To identify the concerns of those newly diagnosed with Parkinson’s (up to three years since diagnosis) through an online survey and utilize findings to inform…Reliability and Validity of Modified Four Square Step Test (mFSST) Performance in Individuals with Parkinson’s Disease.
Objective: Determine the reliability and validity of the modified Four Square Step Test in individuals with Parkinson’s disease. Background: Parkinson’s disease (PD) is a complex…
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