Publications:

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The Effect of GBA Mutations and APOE Polymorphisms on Dementia with Lewy Bodies in Ashkenazi Jews.

Journal Of Alzheimer'S Disease : Jad

Shiner, Tamara T; Mirelman, Anat A; Rosenblum, Yevgenia Y; Kavé, Gitit G; Weisz, Mali Gana MG; Bar-Shira, Anat A; Goldstein, Orly O; Thaler, Avner A; Gurevich, Tanya T; Orr-Urtreger, Avi A; Giladi, Nir N; Bregman, Noa N

Publication Date: 2021

Variant appearance in text: PC: R496H

PubMed Link: 33646158

Variant Present in the following documents:

• jad-80-jad201295.pdf

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Cross-talks among GBA mutations, glucocerebrosidase, and α-synuclein in GBA-associated Parkinson's disease and their targeted therapeutic approaches: a comprehensive review.

Translational Neurodegeneration

Behl, Tapan T; Kaur, Gagandeep G; Fratila, Ovidiu O; Buhas, Camelia C; Judea-Pusta, Claudia Teodora CT; Negrut, Nicoleta N; Bustea, Cristiana C; Bungau, Simona S

Publication Date: 2021-01-15

Variant appearance in text: PC: R496H

PubMed Link: 33446243

Variant Present in the following documents:

• 40035_2020_Article_226.pdf

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Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease.

Journal Of Clinical Medicine

Paciotti, Silvia S; Albi, Elisabetta E; Parnetti, Lucilla L; Beccari, Tommaso T

Publication Date: 2020-02-21

Variant appearance in text: PC: R496H

PubMed Link: 32098196

Variant Present in the following documents:

• Main text
• jcm-09-00594.pdf

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Ethnic Variation in the Manifestation of Parkinson's Disease: A Narrative Review.

Journal Of Parkinson'S Disease

Ben-Joseph, Aaron A; Marshall, Charles R CR; Lees, Andrew J AJ; Noyce, Alastair J AJ

Publication Date: 2020

Variant appearance in text: PC: R496H

PubMed Link: 31868680

Variant Present in the following documents:

• jpd-10-jpd191763.pdf

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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: PC: R496H

PubMed Link: 30154511

Variant Present in the following documents:

• Main text
• 41598_2018_Article_30843.pdf

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Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3).

Orphanet Journal Of Rare Diseases

Weinreb, Neal J NJ; Finegold, David N DN; Feingold, Eleanor E; Zeng, Zhen Z; Rosenbloom, Barry E BE; Shankar, Suma P SP; Amato, Dominick D

Publication Date: 2015-05-22

Variant appearance in text: PC: R496H

PubMed Link: 25994334

Variant Present in the following documents:

• 13023_2015_Article_280.pdf

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Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis.

Plos One

McNeill, Alisdair A; Wu, Ruey-Meei RM; Tzen, Kai-Yuan KY; Aguiar, Patricia C PC; Arbelo, Jose M JM; Barone, Paolo P; Bhatia, Kailash K; Barsottini, Orlando O; Bonifati, Vincenzo V; Bostantjopoulou, Sevasti S; Bressan, Rodrigo R; Cossu, Giovanni G; Cortelli, Pietro P; Felicio, Andre A; Ferraz, Henrique B HB; Herrera, Joanna J; Houlden, Henry H; Hoexter, Marcelo M; Isla, Concepcion C; Lees, Andrew A; Lorenzo-Betancor, Oswaldo O; Mencacci, Niccolo E NE; Pastor, Pau P; Pappata, Sabina S; Pellecchia, Maria Teresa MT; Silveria-Moriyama, Laura L; Varrone, Andrea A; Foltynie, Tom T; Schapira, Anthony H V AH

Publication Date: 2013

Variant appearance in text: PC: R496H

PubMed Link: 23935950

Variant Present in the following documents:

• Main text
• pone.0069190.pdf

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