Associated Papers
Cis or trans: a puzzle of Parkin activation mechanism.
Sherawat M et al.
Essays in Biochemistry, 2026
Expanding the utility of variant effect predictions with phenotype-specific models.
Stein D et al.
Nature Communications, 2025
WDR26-related Skraban-Deardorff syndrome: clinical, genetic and pathomechanistic insights.
Lin X et al.
European Journal of Medical Research, 2025
40826479 (PubMed )
Supplement: 40001_2025_3024_MOESM2_ESM.xlsx › Sheet1
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM3_ESM.xlsx › Disease_under_NMND
Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India.
Holla VV et al.
Journal of Movement Disorders, 2022
Mutational Impact on "in-Between-Ring" (IBR) Domain of PARKIN on Protein Stability and Function.
Biswas S et al.
Applied Biochemistry and Biotechnology, 2021
Genetic updates on paroxysmal dyskinesias.
Liao JY et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
33448283 (PubMed )
Supplement: 2020_12_09_monoallelic_v31_hmg_suppl_data_accepted_ddaa273.docx
Identification & characterization of leucine-rich repeat kinase 2 & parkin RBR E3 ubiquitin protein ligase variants in patients with Parkinson's disease.
Halder T et al.
The Indian Journal of Medical Research, 2020
The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.
Yi W et al.
Human Molecular Genetics, 2019
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.
Nuytemans K et al.
Human Mutation, 2010
20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf
Parkin mutations in familial and sporadic Parkinson's disease among Indians.
Chaudhary S et al.
Parkinsonism & Related Disorders, 2006
Mutational screening of the parkin gene among South Indians with early onset Parkinson's disease.
Madegowda RH et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2005
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