|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
|
27217339 |
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 |
CausalMutation
|
CLINVAR |
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.
|
27790088 |
2016 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
CausalMutation
|
CLINVAR |
Early-onset optic neuropathy as initial clinical presentation in SPG7.
|
25034272 |
2014 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
CausalMutation
|
CLINVAR |
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
|
25133958 |
2014 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
CausalMutation
|
CLINVAR |
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
|
23812641 |
2013 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
CausalMutation
|
CLINVAR |
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.
|
23733235 |
2013 |
|
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 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
|
22964162 |
2012 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
CausalMutation
|
CLINVAR |
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
|
23065789 |
2012 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
CausalMutation
|
CLINVAR |
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
|
21623769 |
2011 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional evaluation of paraplegin mutations by a yeast complementation assay.
|
20186691 |
2010 |
|
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 |
CausalMutation
|
CLINVAR |
Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.
|
18799786 |
2008 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
|
17646629 |
2007 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
|
16534102 |
2006 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
|
9635427 |
1998 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|