Associated Papers
Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia.
Mitsutake A et al.
Internal Medicine (tokyo, Japan), 2025
Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort.
Jimoh IJ et al.
Clinical Genetics, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG7
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s002.xlsx › adults_patients
SPG7 mutation - Novel phenotypic presentation mimicking idiopathic Parkinson's disease.
Madhavi K et al.
Clinical Parkinsonism & Related Disorders, 2024
Trends and prospects in mitochondrial genome editing.
Phan HTL et al.
Experimental & Molecular Medicine, 2023
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations
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
Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients.
Hadjivassiliou M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
SPG7 mutations are a common cause of undiagnosed ataxia.
Pfeffer G et al.
Neurology, 2015
Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).
Yahikozawa H et al.
Human Genome Variation, 2015
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
Schlipf NA et al.
Clinical Genetics, 2011
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