Associated Papers
Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance.
Gillesse EH et al.
Neurogenetics, 2026
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
41152957 (PubMed )
Supplement: 40035_2025_516_MOESM3_ESM.xlsx › TableS2b_pathogenic_URVs
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG7
Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C.
Motamed-Gorji N et al.
Antioxidants (basel, Switzerland), 2024
38790666 (PubMed )
Supplement: antioxidants-13-00561-s001.zip › antioxidants-2844844-supplementary.pdf
Trends and prospects in mitochondrial genome editing.
Phan HTL et al.
Experimental & Molecular Medicine, 2023
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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM5_ESM.xlsx › Figure_2A
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
Charif M et al.
Neurology. Genetics, 2020
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
Taylor J et al.
Genome Medicine, 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
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
Iqbal Z et al.
Plos One, 2017
A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
Rydning SL et al.
European Journal of Neurology, 2016
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
Select a paper to view details