Varaico: Literature-Extracted Genetic Variants

Gene:EIF4G1
Variant:p.R1205H
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EIF4G1

NM_198241.3:p.R1205H

Associated Papers

An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.

Asmi S et al.

Ageing Research Reviews, 2026

Case Report: Decoding genetic risks of vascular parkinsonism: a case series.

Shalash A et al.

Frontiers in Genetics, 2025

40786864 (PubMed )
Supplement: Table1.xlsx › S.table1

Eukaryotic translation initiation factor EIF4G1 p.Ser637Cys mutation in a family with Parkinson's disease with antecedent essential tremor.

Liu RH et al.

Experimental and Therapeutic Medicine, 2024

Re-evaluation of Genetic Variants in Parkinson's Disease Using Targeted Panel and Next-Generation Sequencing.

Kablan A et al.

Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2023

Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease.

Saini P et al.

Neurobiology of Aging, 2021

Translational Factor eIF4G1 Regulates Glucose Homeostasis and Pancreatic β-Cell Function.

Jo S et al.

Diabetes, 2021

Understanding the Multiple Role of Mitochondria in Parkinson's Disease and Related Disorders: Lesson From Genetics and Protein-Interaction Network.

Nicoletti V et al.

Frontiers in Cell and Developmental Biology, 2021

Translational Factor eIF4G1 Regulates Glucose Homeostasis and Pancreatic β-Cell Function.

Jo S et al.

Diabetes, 2020

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.

Tan MMX et al.

Brain : a Journal of Neurology, 2019

31324919 (PubMed )
Supplement: awz191_supplementary_data.pdf

Targeting mRNA translation in Parkinson's disease.

Correddu D et al.

Drug Discovery Today, 2019

Association analysis of EIF4G1 and Parkinson disease in Xinjiang Uygur and Han nationality.

Ma Y et al.

Medicine, 2018

TMEM230 Mutations Are Rare in Han Chinese Patients with Autosomal Dominant Parkinson's Disease.

Wei Q et al.

Molecular Neurobiology, 2018

Transcriptome Analysis Reveals That Midnolin Regulates mRNA Expression Levels of Multiple Parkinson's Disease Causative Genes.

Obara Y et al.

Biological & Pharmaceutical Bulletin, 2018

Genetic Analysis of FBXO2, FBXO6, FBXO12, and FBXO41 Variants in Han Chinese Patients with Sporadic Parkinson's Disease.

Yuan L et al.

Neuroscience Bulletin, 2017

Cutaneous malignant melanoma and Parkinson disease: Common pathways?

Inzelberg R et al.

Annals of Neurology, 2016

Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson's disease.

Yuan L et al.

Scientific Reports, 2016

Eukaryotic translation initiation factor 4-γ, 1 gene mutations are rare in Parkinson's disease among Taiwanese.

Weng YC et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2016

SLC6A3 rs28363170 and rs3836790 variants in Han Chinese patients with sporadic Parkinson's disease.

Lu Q et al.

Neuroscience Letters, 2016

Genetic analysis of TREM2 variants in Chinese Han patients with sporadic Parkinson's disease.

Tan T et al.

Neuroscience Letters, 2016

Genetic analysis of MC1R variants in Chinese Han patients with sporadic Parkinson's disease.

He S et al.

Neuroscience Letters, 2016

D620N mutation in the VPS35 gene and R1205H mutation in the EIF4G1 gene are uncommon in the Greek population.

Kalinderi K et al.

Neuroscience Letters, 2015

Insights from late-onset familial parkinsonism on the pathogenesis of idiopathic Parkinson's disease.

Volta M et al.

The Lancet. Neurology, 2015

The EIF4G1 gene and Parkinson's disease.

Deng H et al.

Acta Neurologica Scandinavica, 2015

EIF4G1 mutations do not cause Parkinson's disease.

Nichols N et al.

Neurobiology of Aging, 2015

Parkinson disease: α-synuclein mutational screening and new clinical insight into the p.E46K mutation.

Pimentel MM et al.

Parkinsonism & Related Disorders, 2015

Parkinson's disease genes VPS35 and EIF4G1 interact genetically and converge on α-synuclein.

Dhungel N et al.

Neuron, 2015

EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts.

Huttenlocher J et al.

Journal of Medical Genetics, 2015

Identification of synaptosomal proteins binding to monomeric and oligomeric α-synuclein.

Betzer C et al.

Plos One, 2015

Application of next-generation sequencing technologies in Neurology.

Jiang T et al.

Annals of Translational Medicine, 2014

Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy.

Gagliardi M et al.

Neurobiology of Aging, 2014

EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population.

Nishioka K et al.

Parkinsonism & Related Disorders, 2014

EIF4G1 R1205H and VPS35 D620N mutations are rare in Parkinson's disease from South Africa.

Blanckenberg J et al.

Neurobiology of Aging, 2014

Genetics of Parkinson's disease: the yield.

Spatola M et al.

Parkinsonism & Related Disorders, 2014

Genetics and genomics of Parkinson's disease.

Lin MK et al.

Genome Medicine, 2014

Genetic analysis of the S100B gene in Chinese patients with Parkinson disease.

Guo Y et al.

Neuroscience Letters, 2013

VPS35 and EIF4G1 mutations are rare in Parkinson's disease among Indians.

Sudhaman S et al.

Neurobiology of Aging, 2013

Advances in the genetics of Parkinson disease.

Trinh J et al.

Nature Reviews. Neurology, 2013

VPS35 Asp620Asn and EIF4G1 Arg1205His mutations are rare in Parkinson disease from southwest China.

Chen Y et al.

Neurobiology of Aging, 2013

EIF4G1 Ala502Val and Arg1205His variants in Chinese patients with Parkinson disease.

Yuan L et al.

Neuroscience Letters, 2013

Analysis of EIF4G1 in ethnic Chinese.

Li K et al.

Bmc Neurology, 2013

Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations.

Puschmann A

Parkinsonism & Related Disorders, 2013

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease.

Nuytemans K et al.

Neurology, 2013

The genetics of Parkinson's disease: progress and therapeutic implications.

Singleton AB et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?

Lesage S et al.

Neurobiology of Aging, 2012

Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease.

Schulte EC et al.

Neurogenetics, 2012

Genetics of Parkinson disease and other movement disorders.

Kumar KR et al.

Current Opinion in Neurology, 2012

Study of the genetic variability in a Parkinson's Disease gene: EIF4G1.

Tucci A et al.

Neuroscience Letters, 2012

Autosomal dominant Parkinson's disease.

Sundal C et al.

Parkinsonism & Related Disorders, 2012

Translation initiator EIF4G1 mutations in familial Parkinson disease.

Chartier-Harlin MC et al.

American Journal of Human Genetics, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."