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Molecular Psychiatry|February 28, 2024
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapsesDévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, et al.
Archives of Neurology|October 10, 2007
Asian origin for the worldwide-spread mutational event in Machado-Joseph diseaseSandra Martins, Francesc Calafell, Claudia Gaspar, 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.
Annals of Human Genetics|June 10, 2021
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese familiesMahmoud Koko, Ashraf Yahia, Liena E Elsayed, 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.
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.
JAMA Neurology|March 10, 2015
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic ParaplegiaCarlo Rinaldi, Thomas Schmidt, Alan J Situ, et al.
Brain : a Journal of Neurology|October 16, 2012
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathyStephan Klebe, Christel Depienne, Sylvie Gerber, et al.
Brain : a Journal of Neurology|December 12, 2017
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5Cecilia Marelli, Foudil Lamari, Dominique Rainteau, et al.
Annals of Human Genetics|February 4, 2022
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencingAshraf Yahia, Ikhlas Ben Ayed, Ahlam A Hamed, et al.
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