LRRK2 c.1165G>A ;(p.G389R)

Variant ID: 12-40645330-G-A

NM_198578.3(LRRK2):c.1165G>A;(p.G389R)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Human Induced Pluripotent Stem Cell Models of Frontotemporal Dementia With Tau Pathology.

Frontiers In Cell And Developmental Biology
Kühn, Rebekka R; Mahajan, Aayushi A; Canoll, Peter P; Hargus, Gunnar G
Publication Date: 2021

Variant appearance in text: LRRK2: G389R
PubMed Link: 34858989
Variant Present in the following documents:
  • fcell-09-766773.pdf
View BVdb publication page



Corticobasal degeneration and corticobasal syndrome: A review.

Clinical Parkinsonism & Related Disorders
Constantinides, Vasilios C VC; Paraskevas, George P GP; Paraskevas, Panagiotis G PG; Stefanis, Leonidas L; Kapaki, Elisabeth E
Publication Date: 2019

Variant appearance in text: LRRK2: G389R
PubMed Link: 34316603
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review.

Cells
Arienti, Federica F; Lazzeri, Giulia G; Vizziello, Maria M; Monfrini, Edoardo E; Bresolin, Nereo N; Saetti, Maria Cristina MC; Picillo, Marina M; Franco, Giulia G; Di Fonzo, Alessio A
Publication Date: 2021-01-15

Variant appearance in text: LRRK2: G389R
PubMed Link: 33467748
Variant Present in the following documents:
  • cells-10-00171.pdf
View BVdb publication page



Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.

Plos Genetics
Fernández, Maria Victoria MV; Kim, Jong Hun JH; Budde, John P JP; Black, Kathleen K; Medvedeva, Alexandra A; Saef, Ben B; Deming, Yuetiva Y; Del-Aguila, Jorge J; Ibañez, Laura L; Dube, Umber U; Harari, Oscar O; Norton, Joanne J; Chasse, Rachel R; Morris, John C JC; Goate, Alison A; , ; , ; Cruchaga, Carlos C
Publication Date: 2017-11

Variant appearance in text: LRRK2: Gly389Arg
PubMed Link: 29091718
Variant Present in the following documents:
  • Main text
  • pgen.1007045.pdf
View BVdb publication page



Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations.

Frontiers In Aging Neuroscience
Rossi, Giacomina G; Tagliavini, Fabrizio F
Publication Date: 2015

Variant appearance in text: LRRK2: G389R
PubMed Link: 26528178
Variant Present in the following documents:
  • Main text
  • fnagi-07-00192.pdf
View BVdb publication page



Alpha-synuclein and tau: teammates in neurodegeneration?

Molecular Neurodegeneration
Moussaud, Simon S; Jones, Daryl R DR; Moussaud-Lamodière, Elisabeth L EL; Delenclos, Marion M; Ross, Owen A OA; McLean, Pamela J PJ
Publication Date: 2014-10-29

Variant appearance in text: LRRK2: G389R
PubMed Link: 25352339
Variant Present in the following documents:
  • 13024_2014_Article_552.pdf
View BVdb publication page



A familial form of parkinsonism, dementia, and motor neuron disease: a longitudinal study.

Parkinsonism & Related Disorders
Fujioka, Shinsuke S; Boeve, Bradley F BF; Parisi, Joseph E JE; Tacik, Pawel P; Aoki, Naoya N; Strongosky, Audrey J AJ; Baker, Matt M; Sanchez-Contreras, Monica M; Ross, Owen A OA; Rademakers, Rosa R; Sossi, Vesna V; Dickson, Dennis W DW; Stoessl, A Jon AJ; Wszolek, Zbigniew K ZK
Publication Date: 2014-11

Variant appearance in text: LRRK2: G389R
PubMed Link: 25175602
Variant Present in the following documents:
  • Main text
View BVdb publication page