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Is SH3GL2 p.G276V the Causal Functional Variant Underlying Parkinson's Disease Risk at this Locus?

Lookup NU author(s): Professor Camille CarrollORCiD

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This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).


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Author(s): Lazaro-Figueroa A, Hernandez-Medrano AJ, Ramirez-Pineda DB, Cadavid AN, Makarious M, Foo JN, Alvarado CX, Bandres-Ciga S, Perinan MT, Gatto EM, Kauffman M, Khachatryan S, Tavadyan Z, Shepherd CE, Hunter J, Kumar K, Ellis M, Renteria ME, Koks S, Zimprich A, Schumacher-Schuh AF, Rieder C, Awad PS, Tumas V, Camargos S, Fon EA, Monchi O, Fon T, Galleguillos BP, Miranda M, Bustamante ML, Olguin P, Chana P, Tang B, Shang H, Guo J, Chan P, Luo W, Arboleda G, Orozco J, Del Rio MJ, Hernandez A, Salama M, Kamel WA, Zewde YZ, Brice A, Corvol J-C, Westenberger A, Illarionova A, Mollenhauer B, Klein C, Vollstedt E-J, Hopfner F, Hoglinger G, Madoev H, Trinh J, Junker J, Lohmann K, Lange LM, Sharma M, Groppa S, Gasser T, Fang Z-H, Akpalu A, Xiromerisiou G, Hadjigorgiou G, Dagklis I, Tarnanas I, Stefanis L, Stamelou M, Dadiotis E, Medina A, Chan GH-F, Ip N, Cheung NY-F, Chan P, Zhou X, Kishore A, Divya KP, Pal P, Kukkle PL, Rajan R, Borgohain R, Salari M, Quattrone A, Valente EM, Parnetti L, Avenali M, Schirinzi T, Funayama M, Hattori N, Shiraishi T, Karimova A, Kaishibayeva G, Shambetova C, Kruger R, Tan AH, Ahmad-Annuar A, Norlinah MI, Abdul Murad NA, Ibrahim NM, Azmin S, Lim S-Y, Mohamed W, Tay YW, Martinez-Ramirez D, Rodriguez-Violante M, Reyes-Perez P, Tserensodnom B, Ojha R, Anderson TJ, Pitcher TL, Sanyaolu A, Okubadejo N, Ojo O, Aasly JO, Pihlstrom L, Tan M, Ur-Rehman S, Cornejo-Olivas M, Doquenia ML, Rosales R, Vinuela A, Iakovenko E, Mubarak BA, Umair M, Tan E-K, Amod F, Carr J, Bardien S, Jeon B, Kim YJ, Cubo E, Alvarez I, Hoenicka J, Beyer K, Pastor P, El-Sadig S, Brolin K, Zweier C, Paul K, Lin C-H, Wu H-C, Kung P-J, Wu R-M, Wu S, Wu Y, Amouri R, Sassi SB, Nazli Basak A, Genc G, Cakmak OO, Ertan S, Noyce A, Martinez-Carrasco A, Schrag A, Schapira A, Carroll C, Bale C, Grosset D, Stafford EJ, Houlden H, Morris HR, Hardy J, Mok KY, Rizig M, Wood N, Williams N, Okunoye O, Lewis PA, Kaiyrzhanov R, Weil R, Love S, Stott S, Jasaityte S, Dey S, Obese V, Espay A, O'Grady A, Singleton AB, Sobering AK, Siddiqi B, Casey B, Fiske B, Jonas C, Cruchaga C, Pantazis CB, Comart C, Wegel C, Blauwendraat C, Vitale D, Hall D, Hernandez D, Shiamim E, Riley E, Faghri F, Serrano GE, Leonard H, Iwaki H, Chen H, Mata IF, Keller Sarmiento IJ, Williamson J, Kim JJ, Jankovic J, Shulman J, Solle JC, Murphy K, Nuytemans K, Kieburtz K, Markopoulou K, Marek K, Levine KS, Chahine LM, Screven L, Ruffrage L, Shulman L, Marsili L, Kuhl M, Dean M, Makarious MB, Koretsky M, Inca-Martinez M, Nalls MA, Louie N, Mencacci NE, Albin R, Alcalay R, Walker R, Chowdhury S, Dumanis S, Lubbe S, Xie T, Foroud T, Beach T, Sherer T, Song Y, Nguyen D, Nguyen T, Atadzhanov M

Publication type: Letter

Publication status: Published

Journal: Movement Disorders

Year: 2024

Volume: 39

Issue: 11

Pages: 2117-2119

Print publication date: 01/11/2024

Online publication date: 12/08/2024

Acceptance date: 02/01/2024

ISSN (print): 0885-3185

ISSN (electronic): 1531-8257

Publisher: John Wiley and Sons Inc

URL: https://doi.org/10.1002/mds.29719

DOI: 10.1002/mds.29719

PubMed id: 39133574

Data Access Statement: All GP2 data is hosted in collaboration with the AMP PD, and is available via application on the website (https://amp-pd.org/register-for-amp-pd; https://doi.org/10.5281/zenodo.7904832). Genotyping imputation, quality control, ancestry prediction, and processing was performed using GenoTools v1.0, publicly available on GitHub (https://github.com/GP2code/GenoTools). All scripts for analyses are publicly available on GitHub (https://github.com/GP2-TNC-WG/GP2_TRAINEES-SH3GL2/; Zenodo DOI: https://doi.org/10.5281/zenodo.10257319)


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