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Biorxiv : the Preprint Server for Biology|April 1, 2025
PPM1M, a LRRK2-counteracting, phosphoRab12-preferring phosphatase with potential link to Parkinson's diseaseClaire Y Chiang, Neringa Pratuseviciute, Yu-En Lin, et al.The Journal of Clinical Investigation|August 25, 2022
Immune dysregulation caused by homozygous mutations in CBLBErin Janssen, Zachary Peters, Mohammed F Alosaimi, et al.Journal of Medical Genetics|June 29, 2022
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working GroupLéa Guerrini-Rousseau, Julien Masliah-Planchon, Sebastian M Waszak, et al.Cell Reports|July 21, 2025
PPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson's diseaseClaire Y Chiang, Neringa Pratuseviciute, Yu-En Lin, et al.Clinical Genetics|October 7, 2025
Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy SpectrumLuba M Pardo, Javier Martini, Emir Zonic, et al.Brain : a Journal of Neurology|December 8, 2022
Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's diseaseJoanne Trinh, Andrew A Hicks, Inke R König, et al.Current Medical Research and Opinion|March 10, 2017
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic diseaseChristian J Hendriksz, Mathieu Anheim, Peter Bauer, et al.The Lancet. Neurology|May 28, 2013
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline dataHeike Jacobi, Kathrin Reetz, Sophie Tezenas du Montcel, et al.Annals of Neurology|April 12, 2019
A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonismAna Westenberger, Charles Jourdan Reyes, Gerard Saranza, et al.NPJ Parkinson'S Disease|March 26, 2025
The LRRK2 p.L1795F variant causes Parkinson's disease in the European populationLara M Lange, Kristin Levine, Susan H Fox, et al.Pageof 67