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Nature Genetics|November 3, 2023
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signalingNika Schuermans, Salima El Chehadeh, Dimitri Hemelsoet, et al.Ebiomedicine|June 23, 2016
ADAM30 Downregulates APP-Linked Defects Through Cathepsin D Activation in Alzheimer's DiseaseFlorent Letronne, Geoffroy Laumet, Anne-Marie Ayral, et al.American Journal of Human Genetics|July 31, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.American Journal of Human Genetics|April 18, 2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disabilityElke Bogaert, Aurore Garde, Thierry Gautier, et al.Human Mutation|December 24, 2016
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral SclerosisJulie van der Zee, Ilse Gijselinck, Sara Van Mossevelde, et al.Acta Neuropathologica|June 6, 2014
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degenerationJulie van der Zee, Tim Van Langenhove, Gabor G Kovacs, et al.Pageof 6