Spastic Paraplegia Type 7 (SPG7)
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-031-15070-8_104
Reference31 articles.
1. Arnoldi A, Tonelli A, Crippa F et al (2008) A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mutat 29(4):522–531
2. Bernardi P, Forte M (2015) Commentary: SPG7 is an essential and conserved component of the mitochondrial permeability transition pore. Front Physiol 6:320. Switzerland
3. Brugman F, Scheffer H, Wokke JH et al (2008) Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. Neurology 71:1500–1505
4. Cagnoli C, Mariotti C, Taroni F et al (2006) SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain 129:235–242
5. Casari G, De Fusco M, Ciarmatori S et al (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93(6):973–983
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