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Brain : a Journal of Neurology|November 7, 2022
Mitochondrial haplogroups and cognitive progression in Parkinson's diseaseGanqiang Liu, Chunming Ni, Jiamin Zhan, et al.
Medrxiv : the Preprint Server for Health Sciences|July 15, 2024
Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellumDavid Pellerin, Jean-Loup Méreaux, Susana Boluda, et al.
Brain : a Journal of Neurology|October 8, 2024
Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellumDavid Pellerin, Jean-Loup Méreaux, Susana Boluda, et al.
Neurobiology of Aging|December 29, 2009
A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's diseaseRejko Krüger, Manu Sharma, Olaf Riess, et al.
Annals of Neurology|April 26, 2021
Investigation of Autosomal Genetic Sex Differences in Parkinson's DiseaseCornelis Blauwendraat, Hirotaka Iwaki, Mary B Makarious, et al.
American Journal of Human Genetics|March 5, 2016
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent MitophagySuzanne Lesage, Valérie Drouet, Elisa Majounie, et al.
Neurogenetics|May 16, 2006
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneityGiovanni Stevanin, Giorgia Montagna, Hamid Azzedine, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 12, 2022
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar AtaxiaLiedewei Van de Vondel, Jonathan De Winter, Danique Beijer, et al.
Annals of Neurology|August 21, 2015
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-SaguenayJulie Pilliod, Sébastien Moutton, Julie Lavie, et al.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinaseEmil K Gustavsson, Jordan Follett, Joanne Trinh, et al.
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