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Frontiers in Neurology|August 28, 2020
Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center CohortSuzanne Lesage, Marion Houot, Graziella Mangone, et al.Brain : a Journal of Neurology|April 27, 2017
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathiesMarie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, et al.Annals of Neurology|January 10, 2002
PARK6-linked parkinsonism occurs in several European familiesEnza Maria Valente, Francesco Brancati, Alessandro Ferraris, et al.JAMA Neurology|May 8, 2013
Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R geneRita Guerreiro, Eleanna Kara, Isabelle Le Ber, et al.Brain : a Journal of Neurology|June 18, 2014
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvementSylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, et al.American Journal of Human Genetics|January 7, 2014
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegiaTyphaine Esteves, Alexandra Durr, Emeline Mundwiller, et al.Journal of Medical Genetics|June 26, 2010
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlationsStéphanie Millecamps, François Salachas, Cécile Cazeneuve, et al.Neurology|August 12, 2024
Longitudinal Changes of Clinical, Imaging, and Fluid Biomarkers in Preataxic and Early Ataxic Spinocerebellar Ataxia Type 2 and 7 CarriersGiulia Coarelli, Charlotte Dubec-Fleury, Emilien Petit, et al.Nature Genetics|February 27, 2007
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosumGiovanni Stevanin, Filippo M Santorelli, Hamid Azzedine, et al.Human Molecular Genetics|November 19, 2010
Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European populationMohamad Saad, Suzanne Lesage, Aude Saint-Pierre, et al.Pageof 50