Elucidating causative gene variants in hereditary Parkinson’s disease in the Global Parkinson’s Genetics Program (GP2)

Autor: Lara M. Lange, Micol Avenali, Melina Ellis, Anastasia Illarionova, Ignacio J. Keller Sarmiento, Ai-Huey Tan, Harutyun Madoev, Caterina Galandra, Johanna Junker, Karisha Roopnarain, Justin Solle, Claire Wegel, Zih-Hua Fang, Peter Heutink, Kishore R. Kumar, Shen-Yang Lim, Enza Maria Valente, Mike Nalls, Cornelis Blauwendraat, Andrew Singleton, Niccolo Mencacci, Katja Lohmann, Christine Klein, the Global Parkinson’s Genetic Program (GP2)

Publikováno v: npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-5 (2023)

Abstract The Monogenic Network of the Global Parkinson’s Genetics Program (GP2) aims to create an efficient infrastructure to accelerate the identification of novel genetic causes of Parkinson’s disease (PD) and to improve our understanding of al

Externí odkaz: https://doaj.org/article/8b77c4b847d04eeb869510a018f48bee

Frequency of Known Genetic Variants for Parkinson’s Disease in the PD GENEration Study Cohort (S42.002)

Autor: James Beck, Kamalini Ghosh Galvelis, Martha Nance, Anna Naito, Niccolo Mencacci, Ignacio Mata, Anne Hall, Jeanine Schulze, Rayza Priscila Hodges, Anne Marie Wills, Michael Schwarzschild, Karen Marder, Tanya Simuni, Mandy Miller, Jennifer Verbrugge, Lola Cook, Laura Heathers, Michelle Totten, Tatiana Foroud, Roy Alcalay

Publikováno v: Wednesday, April 26.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cc45003d664c0b76bd6dec8251caba78
https://doi.org/10.1212/wnl.0000000000203590

The commercial genetic testing landscape for Parkinson's disease

Autor: Lola Cook, Jeanine Schulze, Jennifer Verbrugge, James C. Beck, Karen S. Marder, Rachel Saunders-Pullman, Christine Klein, Anna Naito, Roy N. Alcalay, Alexis Brice, Amasi Kumeh, Andrew B. West, Andrew Singleton, Birgitt Schüle, Brian Fiske, Carolin Gabbert, Connie Marras, Cornelis Blauwendraat, Courtney Thaxton, Dario Alessi, David Craig, Edward A. Fon, Emily Forbes, Enza Maria Valente, Esther Sammler, Gill Chao, Giulietta Riboldi, Houda Zghal Elloumi, Ignacio Mata, Jamie C. Fong, Jean-Christophe Corvol, Joshua Shulman, Judith Peterschmitt, Karen Marder, Katja Lohmann, Kelly Nudelman, Lara Lange, Mark R. Cookson, Martha Nance, Matthew Farrer, Melina Grigorian, Michael A. Schwarzschild, Niccolo Mencacci, Owen Ross, Pramod Mistry, Priscila Hodges, Rachel Blake, S. Pablo Sardi, Sali Farhan, Samuel Strom, Shalini Padmanabhan, Shruthi Mohan, Simonne Longerich, Susanne Schneider, Suzanne Lesage, Tanya Bardakjian, Tatiana Foroud, Thomas Courtin, Thomas Tropea, Yunlong Liu, Ziv Gan-Or, Ali S. Shalash, Anne Hall, Avner Thaler, Carolyn M. Sue, Deborah Mascalzoni, Deborah Raymond, Emilia Mabel Gatto, Gian D. Pal, Inke König, Ivana Novakovic, Marcelo Merello, Mehri Salari, Niccolo Emanuele Mencacci, Nobutaka Hattori, Oksana Suchowersky, Soraya Bardien, Sun Ju Chung, Tatyana Simuni, Timothy Lynch, Vincenzo Bonifati

Publikováno v: Parkinsonism Relat Disord
Parkinsonism and Related Disorders, 92, 107-111. Elsevier

Introduction There have been no specific guidelines regarding which genes should be tested in the clinical setting for Parkinson's disease (PD) or parkinsonism. We evaluated the types of clinical genetic testing offered for PD as the first step of ou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::795bfd2d4987b04ddddc4b213b2371ba
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-468461