Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.N1437D
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LRRK2

NM_198578.4:p.N1437D

Associated Papers

Membrane Dysfunction as a Central Mechanism in LRRK2-Associated Parkinson's Disease: Comparative Analysis of G2019S and I1371V Variants.

Singh K et al.

Cells, 2026

A Complex FGF14 (TTC)/(TGC) Repeat Expansion in Parkinson's Disease.

Zheng X et al.

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

41277530 (PubMed )
Supplement: supplement_1.docx

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Clinical feature and alpha-synuclein level of restless legs syndrome with leucine-rich repeat kinase 2 encoding gene mutation.

Guo X et al.

Parkinsonism & Related Disorders, 2025

Leucine-Rich Repeat Kinase 2: Pathways to Parkinson's Disease.

Pfeffer SR et al.

Cold Spring Harbor Perspectives in Medicine, 2025

The homozygous LRRK2.p.N1437D point mutation mouse is a novel model of parkinsonism.

Gan LH et al.

Npj Parkinson's Disease, 2025

Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant.

Lim SY et al.

Npj Parkinson's Disease, 2025

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

Lim SY et al.

The Lancet. Neurology, 2024

p.L1795F LRRK2 variant is a common cause of Parkinson's disease in Central Europe.

Ostrozovicova M et al.

Research Square, 2024

The pathogenesis of Parkinson's disease.

Morris HR et al.

Lancet (london, England), 2024

The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.

Koros C et al.

Genes, 2023

Leucine-rich repeat kinase 2 at a glance.

Zhu C et al.

Journal of Cell Science, 2023

Autosomal dominant Parkinson's disease caused by the recently identified LRRK2 N1437D mutation in a Chinese family: Clinical features, imaging findings, and functional impact.

Sun YM et al.

Parkinsonism & Related Disorders, 2023

Overview of the Impact of Pathogenic LRRK2 Mutations in Parkinson's Disease.

Ito G et al.

Biomolecules, 2023

The emerging role of LRRK2 in tauopathies.

Herbst S et al.

Clinical Science (london, England : 1979), 2022

Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson's disease.

Turski P et al.

Frontiers in Neuroscience, 2022

The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population.

Zhao Y et al.

Brain : a Journal of Neurology, 2020

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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."