LRRK2 c.418G>C ;(p.D140H)

Variant ID: 12-40629498-G-C

NM_198578.3(LRRK2):c.418G>C;(p.D140H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


GBA-associated PD: chances and obstacles for targeted treatment strategies.

Journal Of Neural Transmission (Vienna, Austria : 1996)
Höglinger, Günter G; Schulte, Claudia C; Jost, Wolfgang H WH; Storch, Alexander A; Woitalla, Dirk D; Krüger, Rejko R; Falkenburger, Björn B; Brockmann, Kathrin K
Publication Date: 2022-09

Variant appearance in text: LRRK2: D140H
PubMed Link: 35639160
Variant Present in the following documents:
  • Main text
  • 702_2022_Article_2511.pdf
View BVdb publication page



Safety, Pharmacokinetics, and Pharmacodynamics of Oral Venglustat in Patients with Parkinson's Disease and a GBA Mutation: Results from Part 1 of the Randomized, Double-Blinded, Placebo-Controlled MOVES-PD Trial.

Journal Of Parkinson'S Disease
Peterschmitt, M Judith MJ; Saiki, Hidemoto H; Hatano, Taku T; Gasser, Thomas T; Isaacson, Stuart H SH; Gaemers, Sebastiaan J M SJM; Minini, Pascal P; Saubadu, Stéphane S; Sharma, Jyoti J; Walbillic, Samantha S; Alcalay, Roy N RN; Cutter, Gary G; Hattori, Nobutaka N; Höglinger, Günter U GU; Marek, Kenneth K; Schapira, Anthony H V AHV; Scherzer, Clemens R CR; Simuni, Tanya T; Giladi, Nir N; Sardi, Sergio Pablo SP; Fischer, Tanya Z TZ; ,
Publication Date: 2022

Variant appearance in text: LRRK2: D140H
PubMed Link: 34897099
Variant Present in the following documents:
  • jpd-12-jpd212714-s001.pdf
View BVdb publication page



Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges.

International Journal Of Molecular Sciences
Combi, Romina R; Salsone, Maria M; Villa, Chiara C; Ferini-Strambi, Luigi L
Publication Date: 2021-04-12

Variant appearance in text: LRRK2: Asp140His
PubMed Link: 33921279
Variant Present in the following documents:
  • Main text
View BVdb publication page



Self-report data as a tool for subtype identification in genetically-defined Parkinson's Disease.

Scientific Reports
Winslow, Ashley R AR; Hyde, Craig L CL; Wilk, Jemma B JB; Eriksson, Nicholas N; Cannon, Paul P; Miller, Melissa R MR; Hirst, Warren D WD
Publication Date: 2018-08-28

Variant appearance in text: LRRK2: D140H
PubMed Link: 30154511
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_30843.pdf
View BVdb publication page



Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's.

Annals Of Neurology
Liu, Ganqiang G; Boot, Brendon B; Locascio, Joseph J JJ; Jansen, Iris E IE; Winder-Rhodes, Sophie S; Eberly, Shirley S; Elbaz, Alexis A; Brice, Alexis A; Ravina, Bernard B; van Hilten, Jacobus J JJ; Cormier-Dequaire, Florence F; Corvol, Jean-Christophe JC; Barker, Roger A RA; Heutink, Peter P; Marinus, Johan J; Williams-Gray, Caroline H CH; Scherzer, Clemens R CR; ,
Publication Date: 2016-11

Variant appearance in text: LRRK2: D140H
PubMed Link: 27717005
Variant Present in the following documents:
  • Main text
  • ANA-80-674.pdf
View BVdb publication page