Publications:

Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson's Disease.

Movement Disorders : Official Journal Of The Movement Disorder Society

Coku, Ilda I; Mutez, Eugénie E; Eddarkaoui, Sabiha S; Carrier, Sébastien S; Marchand, Antoine A; Deldycke, Claire C; Goveas, Liesel L; Baille, Guillaume G; Tir, Mélissa M; Magnez, Romain R; Thuru, Xavier X; Vermeersch, Gaëlle G; Vandenberghe, Wim W; Buée, Luc L; Defebvre, Luc L; Sablonnière, Bernard B; Chartier-Harlin, Marie-Christine MC; Taymans, Jean-Marc JM; Huin, Vincent V

Publication Date: 2022-08

Variant appearance in text: LRRK2: 689A>G; H230R

PubMed Link: 35708213

Variant Present in the following documents:

• Main text
• MDS-37-1761.pdf

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New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background.

Medicine

Bartoníková, Tereza T; Menšíková, Kateřina K; Kolaříková, Kristýna K; Vodička, Radek R; Vrtěl, Radek R; Otruba, Pavel P; Kaiserová, Michaela M; Vaštík, Miroslav M; Mikulicová, Lenka L; Ovečka, Josef J; Šáchová, Ludmila L; Dvorský, František F; Krša, Jiří J; Jugas, Petr P; Godava, Marek M; Bareš, Martin M; Janout, Vladimír V; Hluštík, Petr P; Procházka, Martin M; Kaňovský, Petr P

Publication Date: 2018-09

Variant appearance in text: PARK8: 689A>G

PubMed Link: 30235682

Variant Present in the following documents:

• Main text

View BVdb publication page