Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
SPG7 mutation - Novel phenotypic presentation mimicking idiopathic Parkinson's disease.
Madhavi K et al.
Clinical Parkinsonism & Related Disorders, 2024
FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands.
Mortensen Ó et al.
European Journal of Human Genetics : Ejhg, 2023
Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia.
Xing F et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia.
Sáenz-Farret M et al.
Movement Disorders Clinical Practice, 2022
Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort.
Bogdanova-Mihaylova P et al.
Journal of Neurology, 2021
Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.
Hewamadduma CA et al.
Neurology. Genetics, 2018
Clinical and genetic study of hereditary spastic paraplegia in Canada.
Chrestian N et al.
Neurology. Genetics, 2017
A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
Rydning SL et al.
European Journal of Neurology, 2016
Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.
Keogh MJ et al.
Journal of Neurology, 2015
SPG7 mutations are a common cause of undiagnosed ataxia.
Pfeffer G et al.
Neurology, 2015
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Pfeffer G et al.
Brain : a Journal of Neurology, 2014
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.
Wedding IM et al.
Plos One, 2014
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
van Gassen KL et al.
Brain : a Journal of Neurology, 2012
Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.
Tzoulis C et al.
Journal of Neurology, 2008