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American Journal of Human Genetics|June 11, 2013
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegiaAmir Boukhris, Rebecca Schule, José L Loureiro, et al.Acta Neuropathologica|August 1, 2024
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagyJonasz J Weber, Leah Czisch, Priscila Pereira Sena, et al.Journal of Neurology, Neurosurgery, and Psychiatry|February 15, 2013
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphismStephan Klebe, Jean-Louis Golmard, Michael A Nalls, et al.JAMA Neurology|August 8, 2013
Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic riskValentina Moskvina, Denise Harold, GianCarlo Russo, et al.Journal of Medical Genetics|June 14, 2012
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disabilityJulien Thevenon, Estelle Lopez, Boris Keren, et al.Brain : a Journal of Neurology|June 29, 2014
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genesSophie Tezenas du Montcel, Alexandra Durr, Peter Bauer, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 7, 2022
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid featuresUwe Kornak, Namrata Saha, Boris Keren, et al.Brain : a Journal of Neurology|May 31, 2015
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaMarie Coutelier, Cyril Goizet, Alexandra Durr, et al.JAMA Neurology|July 25, 2018
Frequency of Loss of Function Variants in LRRK2 in Parkinson DiseaseCornelis Blauwendraat, Xylena Reed, Demis A Kia, et al.Movement Disorders Clinical Practice|October 27, 2018
Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease ProgressionAlhassane Diallo, Heike Jacobi, Tanja Schmitz-Hübsch, et al.Pageof 50