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Movement Disorders : Official Journal of the Movement Disorder Society|April 9, 2019
Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanismsCornelis Blauwendraat, Karl Heilbron, Costanza L Vallerga, et al.Brain : a Journal of Neurology|October 23, 2021
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degenerationMathieu Barbier, Agnès Camuzat, Khalid El Hachimi, et al.NPJ Parkinson'S Disease|May 14, 2026
Multi-locus genetic dosage shapes cognitive disease progression in Parkinson's patients: 15-year meta-analysis of 24 cohortsXiaoying Kang, Zechuan Lin, Fatma Zehra Calikusu, et al.Ebiomedicine|December 27, 2023
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsJean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, et al.Journal of Medical Genetics|September 29, 2017
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literatureManuel Schiff, Céline Roda, Marie-Lorraine Monin, et al.European Journal of Human Genetics : EJHG|September 8, 2016
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in SudanLiena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, et al.Brain : a Journal of Neurology|July 5, 2014
Parkinson's disease in GTP cyclohydrolase 1 mutation carriersNiccolò E Mencacci, Ioannis U Isaias, Martin M Reich, et al.NPJ Parkinson'S Disease|March 30, 2024
Genotype-phenotype correlation in PRKN-associated Parkinson's diseasePoornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, et al.Neurology. Genetics|August 13, 2019
Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohortsHirotaka Iwaki, Cornelis Blauwendraat, Hampton L Leonard, et al.Nature Genetics|July 28, 2014
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's diseaseMike A Nalls, Nathan Pankratz, Christina M Lill, et al.Pageof 50