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Frontiers in Neurology|February 15, 2024
Distribution of the <i>C9orf72</i> hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitationEmiliano Giardina, Paola Mandich, Roberta Ghidoni, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
<i>GCH1</i> p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian PopulationsYi Wen Tay, Andrew Leslie Lee, Jie Ping Schee, et al.
Elife|May 31, 2015
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndromeSusanne Roosing, Matan Hofree, Sehyun Kim, et al.
Annals of Neurology|March 11, 2011
Independent and joint effects of the MAPT and SNCA genes in Parkinson diseaseAlexis Elbaz, Owen A Ross, John P A Ioannidis, et al.
Movement Disorders Clinical Practice|September 13, 2024
Family History in Parkinson's Disease: A National Cross-Sectional StudyFederica Arienti, Giovanni Casazza, Giulia Franco, et al.
Nature Genetics|June 1, 2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Clare V Logan, Soumaya Mougou-Zerelli, et al.
Medrxiv : the Preprint Server for Health Sciences|July 17, 2025
The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational RelevanceLara M Lange, Zih-Hua Fang, Mary B Makarious, et al.
Frontiers in Medicine|November 16, 2020
Brazilian Consortium for the Study on Renal Diseases Associated With COVID-19: A Multicentric Effort to Understand SARS-CoV-2-Related NephropathyAntonio Augusto Lima Teixeira Júnior, Precil Diego Miranda de Menezes Neves, Joyce Santos Lages, et al.
Neurobiology of Disease|January 15, 2026
Association between plasma glucosylsphingosine levels and dyskinesia burden in GBA1-related Parkinson's diseaseMassimo Marano, Carmela Zizzo, Francesco Cavallieri, et al.
The Lancet. Neurology|July 15, 2026
Parkinson's disease genetics across diverse ancestries: an observational genetic study of causal and risk variants with translational implicationsLara M Lange, Zih-Hua Fang, Mary B Makarious, et al.
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