A novel mutation in the spastin gene in a family with spastic paraplegia
Author:
Publisher
Elsevier BV
Subject
General Neuroscience
Reference20 articles.
1. Hereditary spastic paraplegia caused by mutations in the SPG4 gene;Bürger;Eur. J. Hum. Genet.,2000
2. Molecular basis of inherited spastic paraplegias;Casari;Curr. Opin. Genet. Dev.,2001
3. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease;Casari;Cell,1998
4. Novel mutation of the Spastin gene in familial spastic paraplegia;de Bantel;Clin. Genet.,2001
5. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia;Fonknechten;Hum. Mol. Genet.,2000
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1. Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia;Movement Disorders;2024-01-31
2. Anticipation Can Be More Common in Hereditary Spastic Paraplegia with SPAST Mutations Than It Appears;Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques;2021-08-06
3. The AAA + ATPase Thorase is neuroprotective against ischemic injury;Journal of Cerebral Blood Flow & Metabolism;2018-04-16
4. Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia;Russian Journal of Genetics;2016-06
5. Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males;Journal of the Neurological Sciences;2011-07
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