Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.R1441S
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LRRK2

NM_198578.4:p.R1441S

Associated Papers

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

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

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

Pfeffer SR et al.

Cold Spring Harbor Perspectives in Medicine, 2025

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

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

Genetically stratified Parkinson's disease with freezing of gait is related to specific pattern of cognitive impairment and non-motor dominant endophenotype.

Pavelka L et al.

Frontiers in Aging Neuroscience, 2024

39463818 (PubMed )
Supplement: Table_1.DOCX

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

Ito G et al.

Biomolecules, 2023

Genetic landscape of Parkinson's disease and related diseases in Luxembourg.

Landoulsi Z et al.

Frontiers in Aging Neuroscience, 2023

Impact of 100 LRRK2 variants linked to Parkinson's disease on kinase activity and microtubule binding.

Kalogeropulou AF et al.

The Biochemical Journal, 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

Mind the Gap: LRRK2 Phenotypes in the Clinic vs. in Patient Cells.

Goveas L et al.

Cells, 2021

LRRK2 in Parkinson disease: challenges of clinical trials.

Tolosa E et al.

Nature Reviews. Neurology, 2020

The Current State-of-the Art of LRRK2-Based Biomarker Assay Development in Parkinson's Disease.

Rideout HJ et al.

Frontiers in Neuroscience, 2020

The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci.

Germer EL et al.

Frontiers in Neurology, 2019

31920912 (PubMed )
Supplement: Data_Sheet_1.pdf

The Parkinson's disease VPS35[D620N] mutation enhances LRRK2-mediated Rab protein phosphorylation in mouse and human.

Mir R et al.

The Biochemical Journal, 2018

Genetic factors in neurodegenerative diseases.

Tsuang DW et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2017

The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.

Mata IF et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2017

Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson's disease (LARGE-PD), a case of ancestry.

Cornejo-Olivas M et al.

Npj Parkinson's Disease, 2017

The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.

Mata IF et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2016

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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."