Associated Papers
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
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
Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.
Keogh MJ et al.
Journal of 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
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