Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.T408M
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GBA1

NM_000157.4:p.T408M

Associated Papers

Multi-cohort, cross-species urinary proteomics reveals signatures of LRRK2 dysfunction in Parkinson's disease.

Vu DT et al.

Molecular Systems Biology, 2026

Metabolomic breath landscape analysis unravels lipid biomarker candidates in patients with genetic and idiopathic Parkinson's disease.

Malik M et al.

Npj Parkinson's Disease, 2026

The genetic architecture of Parkinson's disease on the Island of Crete.

Boura I et al.

Npj Parkinson's Disease, 2025

Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.

Step K et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Underlying Mechanisms of GBA1 in Parkinson's Disease and Dementia with Lewy Bodies: Narrative Review.

Bougea A

Genes, 2025

Investigating causal relations between brain morphology and genetic risk variants in Parkinson's disease.

Dagasso G et al.

Neuroimage. Clinical, 2025

WES-Based Screening of a Swedish Patient Series with Parkinson's Disease.

Kafantari E et al.

Genes, 2025

The role of mitochondrial genetics in Parkinson's disease: Long-read sequencing as an emerging method.

Tran NLK et al.

Med (new York, N.y.), 2025

Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant.

Kamo H et al.

Movement Disorders Clinical Practice, 2025

Decreased SNCA expression in whole-blood RNA analysis of Parkinson's disease adjusting for neutrophils.

Xu KY et al.

Npj Parkinson's Disease, 2025

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Brain : a Journal of Neurology, 2025

Severe GBA1 variants drive the GBA1-PD clinical phenotype: implications for counselling and clinical trials.

Menozzi E et al.

Npj Parkinson's Disease, 2025

41034226 (PubMed )
Supplement: 41531_2025_1063_MOESM1_ESM.docx

Functional and Structural Characterization of LRRK2 p.V1447L in Parkinson's Disease.

Pratuseviciute N et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.

Koç Yekedüz M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Genetic Basis of Sleep Dysfunction in Parkinson's Disease and Parkinsonism.

Wan YM et al.

Sleep Medicine Clinics, 2025

Genetics Influences Telomere Length in Parkinson's Disease: A Study in Monozygotic Discordant Twins.

Straniero L et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study.

Anis S et al.

Parkinsonism & Related Disorders, 2025

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.

Lange LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Penetrance of Parkinson's disease in GBA1 carriers depends on variant severity and polygenic background.

Hassanin E et al.

Npj Parkinson's Disease, 2025

Diverse Genomes, Shared Health: Insights from a Health System Biobank.

Haas R et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Is Gauchian genotyping of GBA1 variants reliable?

Tayebi N et al.

Communications Biology, 2025

Differences in age-related distribution of CSF alpha-synuclein seeding and Alzheimer profiles between PD with and without GBA1 variants.

Lerche S et al.

Npj Parkinson's Disease, 2025

40324994 (PubMed )
Supplement: 41531_2025_978_MOESM1_ESM.pdf

LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease.

Cuconato G et al.

Parkinsonism & Related Disorders, 2025

Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.

Rossi M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.

Yang J et al.

Npj Parkinson's Disease, 2025

Next Generation Sequencing Analysis in Patients Affected by Parkinson's Disease and Correlation Between Genotype and Phenotype in Selected Clinical Cases.

Pilotto A et al.

International Journal of Molecular Sciences, 2025

Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening.

Gragnaniello V et al.

Molecular Genetics and Metabolism Reports, 2025

The effect of polygenic risk score on PD risk and phenotype in LRRK2 G2019S and GBA1 carriers.

Goldstein O et al.

Journal of Parkinson's Disease, 2025

Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic GBA1 variant and no Gaucher disease symptoms.

Cotrin JC et al.

Neurogenetics, 2025

Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk.

Chew EG et al.

Nature Aging, 2025

39572736 (PubMed )
Supplement: 43587_2024_760_MOESM1_ESM.pdf

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Understanding Parkinson disease in Spain: Genetic and clinical insights.

Gómez-Garre P et al.

European Journal of Neurology, 2025

GBA1 T369M and Parkinson's disease - Further evidence of a lack of association in the Swedish population.

Brolin KA et al.

Parkinsonism & Related Disorders, 2025

GBA genotype-Parkinson's phenotype correlation in a cohort of 252 Italian patients from the Tuscany region.

Tonin R et al.

Clinical Parkinsonism & Related Disorders, 2025

A Global Perspective of GBA1-Related Parkinson's Disease: A Narrative Review.

Koros C et al.

Genes, 2024

Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.

Vieira SRL et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Uncovering the genetic basis of Parkinson's disease globally: from discoveries to the clinic.

Lim SY et al.

The Lancet. Neurology, 2024

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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."