Neuropsychological profile of patients with functional movement disorders
Objective: Our objective was to assess cognitive functioning in patients with functional movement disorders (FMD) with main focus on the attentional aspects. Background: Although the…Targeted NGS of genes related to hereditary and sporadic NDDs and movement disorders in Italian cohort
Objective: We applied a genetic panel targeting genes causative of NDDs, but we also included several risk factor genes, to assess the efficacy of a targeted…Dissecting the genetic complexity of Parkinson’s disease: a Parkin-GBA study
Objective: In this study, we investigate how the PD risk factor GBA would affect the cellular phenotypes associated with homozygous mutations in Parkin, causing an…A novel TGM6 heterozygous mutation in a patient with cerebellar ataxia
Objective: To report a novel heterozygous missense mutation of TGM6 in a patient with cerebellar ataxia. Background: Mutations in TGM6 have been recently implicated in…The role of X-chromosome inactivation in the penetrance of X-linked dystonia-parkinsonism in women
Objective: To investigate whether the combination of the X-linked dystonia-parkinsonism (XDP) haplotype and skewed X-chromosome inactivation (XCI) underlies the penetrance of XDP in women. Background:…Screening of mutations in PARK2 gene and Dopamine levels in Parkinson’s disease (PD) patients in Coimbatore population, India
Objective: The aim of the present study was to perform the mutational screening of PARK2 gene and dopamine level in PD patients of Coimbatore population,…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…
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