Associated Papers
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
Charif M et al.
Neurology. Genetics, 2020
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
A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
Rydning SL et al.
European Journal of Neurology, 2016
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
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