Associated Papers
Expanding the utility of variant effect predictions with phenotype-specific models.
Stein D et al.
Nature Communications, 2025
Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma.
Yeh CN et al.
Npj Precision Oncology, 2025
Comprehensive genomic profiling and therapeutic implications for Taiwanese patients with treatment-naïve breast cancer.
Chen SH et al.
Cancer Medicine, 2024
A mutational atlas for Parkin proteostasis.
Clausen L et al.
Nature Communications, 2024
Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma.
Jikuya R et al.
Ebiomedicine, 2023
NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer.
Jung K et al.
Scientific Reports, 2022
Deep resequencing identifies candidate functional genes in leprosy GWAS loci.
Fava VM et al.
Plos Neglected Tropical Diseases, 2021
Mutational Impact on "in-Between-Ring" (IBR) Domain of PARKIN on Protein Stability and Function.
Biswas S et al.
Applied Biochemistry and Biotechnology, 2021
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
Novel ATP13A2 and PINK1 variants identified in Chinese patients with Parkinson's disease by whole-exome sequencing.
Chen H et al.
Neuroscience Letters, 2020
The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.
Yi W et al.
Human Molecular Genetics, 2019
Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease.
Fava VM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.
Fernández MV et al.
Plos Genetics, 2017
In Silico Analysis of SNPs in PARK2 and PINK1 Genes That Potentially Cause Autosomal Recessive Parkinson Disease.
Bakhit YH et al.
Advances in Bioinformatics, 2016
Low prevalence of most frequent pathogenic variants of six PARK genes in sporadic Parkinson's disease.
García S et al.
Folia Neuropathologica, 2014
Genetic insights into sporadic Parkinson's disease pathogenesis.
Chai C et al.
Current Genomics, 2013
Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.
Oczkowska A et al.
Current Genomics, 2013
Association of five SNPs at the PARK16 locus as a susceptibility locus with Parkinson's disease for forensic application.
Cui HG et al.
Fa Yi Xue Za Zhi, 2013
Association of Parkinson's disease with six single nucleotide polymorphisms located in four PARK genes in the northern Han Chinese population.
Zhou Y et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2012
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
PARKIN-coding polymorphisms are not associated with Parkinson's disease in a population from northeastern Mexico.
Martínez HR et al.
Neuroscience Letters, 2010
Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.
Clark LN et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2007
Prevalence of parkin gene mutations and variations in idiopathic Parkinson's disease.
Sinha R et al.
Parkinsonism & Related Disorders, 2005
Unraveling the pathogenesis of Parkinson's disease--the contribution of monogenic forms.
Bonifati V et al.
Cellular and Molecular Life Sciences : Cmls, 2004
Parkin genetics: one model for Parkinson's disease.
Mata IF et al.
Human Molecular Genetics, 2004
Polymorphism in candidate genes: implications for the risk and treatment of idiopathic Parkinson's disease.
Gilgun-Sherki Y et al.
The Pharmacogenomics Journal, 2004
Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.
Lücking CB et al.
Archives of Neurology, 2003
Mutation screening and association analysis of the parkin gene in Parkinson's disease patients from South-West China.
Peng R et al.
European Neurology, 2003
Caspase-mediated parkin cleavage in apoptotic cell death.
Kahns S et al.
The Journal of Biological Chemistry, 2002
The parkin gene is not involved in late-onset Parkinson's disease.
Oliveri RL et al.
Neurology, 2001
Autosomal Recessive Juvenile Parkinsonism (AR-JP): Genetic Diagnosis.
Matsumine H et al.
Methods in Molecular Medicine, 2001
A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration.
Dunne E et al.
Annals of Neurology, 1999
[Clinical characteristics and linkage analysis of autosomal recessive form of juvenile parkinsonism(AR-JP)].
Saito M et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1997