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Life Science Alliance|January 31, 2023
The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performanceMira Brazane, Dilyana G Dimitrova, Julien Pigeon, et al.Brain : a Journal of Neurology|September 8, 2022
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disabilityChristina Fevga, Christelle Tesson, Ana Carreras Mascaro, et al.Nature Genetics|December 25, 2012
Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemiaKim De Keersmaecker, Zeynep Kalender Atak, Ning Li, et al.Brain : a Journal of Neurology|February 7, 2025
De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndromeKevin T A Booth, Sharayu V Jangam, Martin M C Chui, et al.Brain : a Journal of Neurology|September 26, 2025
MYC-driven gliosis impairs neuron-glia communication in amyotrophic lateral sclerosisPaolo Vincenzo Fioretti, Anna Barbieri, Alice Migazzi, et al.American Journal of Human Genetics|September 23, 2025
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disordersJohnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, et al.Medrxiv : the Preprint Server for Health Sciences|August 16, 2024
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathwaysFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.Nature Communications|April 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethalityFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.Pageof 10