|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
GeneticVariation
|
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
CausalMutation
|
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
|
26506339 |
2015 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
GeneticVariation
|
CLINVAR |
SPG7 mutations are a common cause of undiagnosed ataxia.
|
25681447 |
2015 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
CausalMutation
|
CLINVAR |
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.
|
23269439 |
2013 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
GeneticVariation
|
CLINVAR |
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
|
22571692 |
2013 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
|
23065789 |
2012 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
CausalMutation
|
CLINVAR |
Functional evaluation of paraplegin mutations by a yeast complementation assay.
|
20186691 |
2010 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Functional evaluation of paraplegin mutations by a yeast complementation assay.
|
20186691 |
2010 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
|
16534102 |
2006 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Ataxia
|
|
0.720 |
GeneticVariation
|
BEFREE |
Patients with at least 1 Ala510Val variant (58%) were older (age 37.6 ± 13.7 vs 32.8 ± 14.6 years, <i>p</i> < 0.05) and showed ataxia at onset (<i>p</i> < 0.05).
|
31068484 |
2019 |
|
Ataxia
|
|
0.720 |
GeneticVariation
|
BEFREE |
The SPG7 c.1529C>T (p.Ala510Val) mutants accounted for 2.3% of cerebellar ataxia cases in Italy, suggesting that this variant should be considered as a priority test in the presence of late-onset pure ataxia.
|
30098094 |
2019 |
|
Spastic Paraplegia, Hereditary
|
|
0.720 |
GeneticVariation
|
BEFREE |
The TmFtsH A359V mutation, a homolog of the human pathogenic A510V mutation of paraplegin (SPG7) causing hereditary spastic paraplegia, does not affect the dynamic behavior of the protease but impairs the ATP-coupled domain compaction and, thus, may account for protease malfunctioning and pathogenesis in hereditary spastic paraplegia.
|
30044948 |
2018 |
|
Spastic Paraplegia, Hereditary
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene.
|
29057857 |
2017 |
|
Spastic Paraplegia, Hereditary
|
|
0.720 |
CausalMutation
|
CLINVAR |
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
|
28832565 |
2017 |
|
Spastic Paraplegia, Hereditary
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Expanded phenotype in a patient with spastic paraplegia 7.
|
29026558 |
2017 |
|
Spastic Paraplegia, Hereditary
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
|
28832565 |
2017 |
|
Spastic Paraplegia, Hereditary
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
|
28362824 |
2017 |
|
Spastic Paraplegia, Hereditary
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Clinical and genetic study of hereditary spastic paraplegia in Canada.
|
27957547 |
2017 |
|
Ataxia
|
|
0.720 |
CausalMutation
|
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
|
Spastic Paraplegia, Hereditary
|
|
0.720 |
GeneticVariation
|
BEFREE |
Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
|
26506339 |
2015 |
|
Spastic Paraplegia, Hereditary
|
|
0.720 |
GeneticVariation
|
CLINVAR |
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
|
22571692 |
2013 |
|
Spastic Paraplegia, Hereditary
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.
|
23733235 |
2013 |
|
Spastic Paraplegia, Hereditary
|
|
0.720 |
GeneticVariation
|
CLINVAR |
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.
|
23269439 |
2013 |