Associated Papers
A multi-ancestry genetic reference for the Quebec population.
McClelland P et al.
Nature Communications, 2026
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency.
Monfrini E et al.
Neurology. Genetics, 2023
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Martínez-Rubio D et al.
International Journal of Molecular Sciences, 2022
Clinical and molecular characterization of hereditary spastic paraplegia in a spanish Southern region.
Carrasco Salas P et al.
The International Journal of Neuroscience, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia.
Sáenz-Farret M et al.
Movement Disorders Clinical Practice, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec.
Haj Salem I et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2021
Hereditary Spastic Paraplegia 7 Presenting as Multifocal Dystonia with Prominent Cranio-Cervical Involvement.
Campins-Romeu M et al.
Movement Disorders Clinical Practice, 2021
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
Charif M et al.
Neurology. Genetics, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
Coarelli G et al.
Neurology, 2019
Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.
Hewamadduma CA et al.
Neurology. Genetics, 2018
Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.
Burguez D et al.
Journal of the Neurological Sciences, 2017
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
Choquet K et al.
European Journal of Human Genetics : Ejhg, 2016
SPG7 mutations are a common cause of undiagnosed ataxia.
Pfeffer G et al.
Neurology, 2015
Exome sequencing in undiagnosed inherited and sporadic ataxias.
Pyle A et al.
Brain : a Journal of Neurology, 2015
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
Sánchez-Ferrero E et al.
Clinical Genetics, 2013
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.
Wilkinson PA et al.
Brain : a Journal of Neurology, 2004
[Recent progress in genetic study of hereditary spastic paraplegia].
Takano H et al.
No to Shinkei = Brain and Nerve, 2003