Condition: Spastic Paraplegia, Hereditary


rs200133991 in C19orf12 gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

rs398123015 in CREB3;GBA2 gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

rs116171274 in CYP7B1 gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

rs763958615 in ERLIN2 gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

rs398123012 in GBA2 gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

rs548204329 in KIF1A gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

rs1555177629 in KIF5A gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

rs1085307110 in KY;CEP63;EPHB1 gene and Spastic Paraplegia, Hereditary PMID 28488683 2017 Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.

rs104894490 in NIPA1 gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

rs1266102026 in REEP1 gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

rs1553316816 in SPAST gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

rs312262720 in SPG11 gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

rs562890289 in SPG7 gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

PMID 29057857 2017 Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene.

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

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

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

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

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 29026558 2017 Expanded phenotype in a patient with spastic paraplegia 7.

PMID 27957547 2017 Clinical and genetic study of hereditary spastic paraplegia in Canada.

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

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

PMID 28362824 2017 Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

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

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

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

PMID 9635427 1998 Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

rs1555394376 in ZFYVE26 gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.