Condition: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE


rs121918357 in SPG7 gene and SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE PMID 9635427 1998 Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

PMID 20186691 2010 Functional evaluation of paraplegin mutations by a yeast complementation assay.

PMID 16534102 2006 Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.

PMID 27217339 2016 Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

PMID 17646629 2007 A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

PMID 18200586 2008 A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.

PMID 26626314 2016 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

PMID 22571692 2013 SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.

PMID 24727571 2014 Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

PMID 21623769 2011 Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.

PMID 22964162 2012 Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

PMID 23733235 2013 Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.

PMID 23269439 2013 The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.

PMID 23065789 2012 Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

PMID 18799786 2008 Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.

PMID 25133958 2014 Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

PMID 25034272 2014 Early-onset optic neuropathy as initial clinical presentation in SPG7.

PMID 23812641 2013 Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.

PMID 27790088 2016 Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.

PMID 26756429 2016 A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

PMID 26506339 2015 Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.

PMID 25681447 2015 SPG7 mutations are a common cause of undiagnosed ataxia.

PMID 14985266 2004 A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.

PMID 27123479 2016 Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis.

PMID 18563470 2008 Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.

PMID 11222789 2001 Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.

PMID 24466038 2014 Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.

PMID 27165006 2016 Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.