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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2022
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4Livia Parodi, Mathieu Barbier, Maxime Jacoupy, et al.
The Lancet. Neurology|January 22, 2022
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trialGiulia Coarelli, Anna Heinzmann, Claire Ewenczyk, et al.
Genes|June 26, 2026
Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar AtaxiaSeval Kılıç, Kerem Esmen, Jean-Loup Méreaux, et al.
Plos One|September 23, 2016
COMT Val158Met Polymorphism Modulates Huntington's Disease ProgressionRuth de Diego-Balaguer, Catherine Schramm, Isabelle Rebeix, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutationsStephan Klebe, Alexander Lossos, Hamid Azzedine, et al.
Ebiomedicine|December 3, 2015
Compensation in Preclinical Huntington's Disease: Evidence From the Track-On HD StudyStefan Klöppel, Sarah Gregory, Elisa Scheller, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 26, 2025
A founder variant in TBCB is associated with global developmental delay, autism spectrum and spastic paraparesisSharon Bratman Morag, Chen Itzkovich, Alina Kurolap, et al.
Brain : a Journal of Neurology|April 23, 2021
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxiaAdriana P Rebelo, Ilse Eidhof, Vivian P Cintra, et al.
Neurology. Genetics|December 16, 2022
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES)Massimo Pandolfo, Kathrin Reetz, Alejandra Darling, et al.
American Journal of Human Genetics|January 22, 2013
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegiaElodie Martin, Rebecca Schüle, Katrien Smets, et al.
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