Pramod Kumar Pal

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.

TMEM175, SCARB2 and CTSB associations with Parkinson's disease risk across populations.

This study identifies genetic associations between lysosomal genes and Parkinson's disease risk across diverse populations using GWAS and whole genome sequencing data.

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.

The genetic drivers of juvenile, young, and early-onset Parkinson's Disease in India

This study identifies genetic risk factors for early-onset Parkinson's Disease in a South Asian population, finding a genome-wide significant signal in the SNCA region and associations with BSN gene variants.

Fibrinogen and complement factor H: The two crucial markers of Parkinson's disease with cognitive impairment

This study identifies fibrinogen and complement factor H as potential biomarkers for Parkinson's disease with cognitive impairment by showing they induce motor and cognitive deficits in mice.

Global Parkinson's Genetics Program (GP2) Complex Network Protocol: Defining the causes of sporadic Parkinson's disease

The paper outlines the protocol for integrating genetic and clinical data from a global cohort of over 150,000 participants to study the genetic causes of sporadic Parkinson's disease.

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.

A series of five population-specific Indian brain templates and atlases spanning ages 6 to 60 years

The paper develops and validates age-specific Indian brain templates and atlases for spatial normalization of MRI data across ages 6-60 years.

Microstructural Abnormalities of Substantia Nigra in Parkinson’s disease: A Neuromelanin Sensitive MRI Atlas Based Study

This paper constructs a probabilistic atlas of the substantia nigra using NMS-MRI and applies it to PD data, finding increased diffusivity but no anisotropy changes in SNc.

Basal ganglia contributions during the learning of a visuomotor rotation: effect of dopamine, deep brain stimulation and reinforcement

This study shows the basal ganglia contribute to visuomotor adaptation in Parkinson's patients, influenced by dopamine, deep brain stimulation, and reinforcement.

Predictive markers for Parkinson’s disease using deep neural nets on neuromelanin sensitive MRI

This paper uses deep neural networks on NMS-MRI to predict Parkinson’s disease with higher accuracy than traditional methods.