Publications:

The relationship between glucocerebrosidase mutations and Parkinson disease.

Journal Of Neurochemistry

Migdalska-Richards, Anna A; Schapira, Anthony H V AH

Publication Date: 2016-10

Variant appearance in text: LRRK2: V458L

PubMed Link: 26860875

Variant Present in the following documents:

• Main text
• JNC-139-77.pdf

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The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.

Movement Disorders : Official Journal Of The Movement Disorder Society

Duran, Raquel R; Mencacci, Niccolo E NE; Angeli, Aikaterini V AV; Shoai, Maryam M; Deas, Emma E; Houlden, Henry H; Mehta, Atul A; Hughes, Derralynn D; Cox, Timothy M TM; Deegan, Patrick P; Schapira, Anthony H AH; Lees, Andrew J AJ; Limousin, Patricia P; Jarman, Paul R PR; Bhatia, Kailash P KP; Wood, Nicholas W NW; Hardy, John J; Foltynie, Tom T

Publication Date: 2013-02

Variant appearance in text: LRRK2: V458L

PubMed Link: 23225227

Variant Present in the following documents:

• Main text

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Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

Brain : A Journal Of Neurology

Neumann, Juliane J; Bras, Jose J; Deas, Emma E; O'Sullivan, Sean S SS; Parkkinen, Laura L; Lachmann, Robin H RH; Li, Abi A; Holton, Janice J; Guerreiro, Rita R; Paudel, Reema R; Segarane, Badmavady B; Singleton, Andrew A; Lees, Andrew A; Hardy, John J; Houlden, Henry H; Revesz, Tamas T; Wood, Nicholas W NW

Publication Date: 2009-07

Variant appearance in text: LRRK2: V458L

PubMed Link: 19286695

Variant Present in the following documents:

• Main text

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