Nitish L. Kamble

Whole-genome sequencing of 197 cases with Parkinson's Disease reveals novel pathogenic variants in the Indian population

The paper performs whole-genome sequencing on Parkinson's Disease cases in India to identify novel pathogenic variants and quantify polygenic risk.

LRRK2 I1371V Impairs Astrocytic Glucose Metabolism and Triggers Multi-Organellar Dysfunction in PD

This study shows that the LRRK2-I1371V mutation impairs astrocytic glucose metabolism and causes multi-organellar dysfunction in Parkinson's disease.

Intermediate repeat alleles at polyglutamine repeat loci in the Indian population

The paper examines the prevalence of intermediate CAG repeat alleles in specific genes among different populations and identifies their association with neuromotor symptoms.

Allelic Diversity, de novo CAG Expansions, and Intergenerational Instability at the HTT Locus in a clinical sample of Huntingtons Disease from India

The paper analyzes allelic diversity and CAG repeat instability in HD patients from India, finding a strong inverse correlation between repeat length and age at onset, and reporting de novo expansions.

Single session of rTMS enhances brain metastability and intrinsic ignition

A single session of rTMS improves brain metastability and intrinsic ignition in patients with essential tremor, suggesting potential therapeutic mechanisms.

Fibrinogen and Complement Factor H are promising CSF protein biomarker(s) for Parkinson's disease with cognitive impairment- A Proteomics and ELISA based study

Distribution of Huntington's disease Haplogroups in Indian population

The paper examines haplogroups at the HTT locus in an Indian population, finding significant genotype frequency differences between HD cases and controls, with Haplogroup A being predominant.