Associated Papers
Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.
Amprosi M et al.
Journal of Neurology, 2026
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Trends and prospects in mitochondrial genome editing.
Phan HTL et al.
Experimental & Molecular Medicine, 2023
Integration of multi-omics technologies for molecular diagnosis in ataxia patients.
Audet S et al.
Frontiers in Genetics, 2023
Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia.
Sáenz-Farret M et al.
Movement Disorders Clinical Practice, 2022
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
Vestibulo-ocular reflex impairment in SPG7 hereditary spastic paraplegia.
Akdal G et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2021
Genetics of primary lateral sclerosis.
Silani V et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.
Mancini C et al.
European Journal of Neurology, 2019
Hereditary spastic paraplegia presenting as limb dystonia with a rare SPG7 mutation.
Schaefer SM et al.
Neurology. Clinical Practice, 2018
Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis.
Yang Y et al.
Neurology. Genetics, 2016
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.
Krüger S et al.
Frontiers in Molecular Neuroscience, 2016
SPG7 mutations are a common cause of undiagnosed ataxia.
Pfeffer G et al.
Neurology, 2015
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