Associated Papers
Genetic analysis of a family with skeletal muscle ion channelopathy and hereditary spastic paraplegia type 7 caused by SCN4A and SPG7 double mutations.
Yu HP et al.
Gene, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG7
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.
Charif M et al.
Frontiers in Neurology, 2021
33841295 (PubMed )
Supplement: Table_2.XLSX › Feuil1
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
Charif M et al.
Neurology. Genetics, 2020
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
Coarelli G et al.
Neurology, 2019
Functional evaluation of paraplegin mutations by a yeast complementation assay.
Bonn F et al.
Human Mutation, 2010
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