Associated Papers
The Neuro-Ophthalmologic Manifestations of SPG7-Associated Disease.
Jauregui R et al.
Journal of Personalized Medicine, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG7
Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia.
Seo Y et al.
American Journal of Medical Genetics. Part A, 2023
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Caporali L et al.
Annals of Neurology, 2020
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
Charif M et al.
Neurology. Genetics, 2020
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.
Dahl S et al.
Plos One, 2020
Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene.
Bhattacharjee S et al.
Neurosciences (riyadh, Saudi Arabia), 2017
Disturbed mitochondrial dynamics and neurodegenerative disorders.
Burté F et al.
Nature Reviews. Neurology, 2015
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
Charif M et al.
Frontiers in Genetics, 2015
Early-onset optic neuropathy as initial clinical presentation in SPG7.
Marcotulli C et al.
Journal of Neurology, 2014
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Klebe S et al.
Brain : a Journal of Neurology, 2012
Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.
Bagli E et al.
In Vivo (athens, Greece), 0
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