SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
|
26756429 |
2016 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.
|
14985266 |
2004 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
|
26626314 |
2016 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.
|
27790088 |
2016 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
|
17646629 |
2007 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SPG7 mutations are a common cause of undiagnosed ataxia.
|
25681447 |
2015 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Functional evaluation of paraplegin mutations by a yeast complementation assay.
|
20186691 |
2010 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
|
9635427 |
1998 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
|
9635427 |
1998 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
|
25133958 |
2014 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
Biomarker
|
disease |
CTD_human |
|
|
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
|
23812641 |
2013 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
SPG7 mutations are a common cause of undiagnosed ataxia.
|
25681447 |
2015 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Early-onset optic neuropathy as initial clinical presentation in SPG7.
|
25034272 |
2014 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Functional evaluation of paraplegin mutations by a yeast complementation assay.
|
20186691 |
2010 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.
|
23733235 |
2013 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis.
|
27123479 |
2016 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the m-AAA subunits AFG3L2 and paraplegin are associated with autosomal dominant spinocerebellar ataxia (SCA28) and autosomal recessive hereditary spastic paraplegia (SPG7), respectively.
|
30252181 |
2018 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
AFG3L2 forms either a homo-oligomeric isoenzyme or a hetero-oligomeric complex with paraplegin, a homologous protein mutated in hereditary spastic paraplegia type 7 (SPG7).
|
22022284 |
2011 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.
|
18799786 |
2008 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
|
27217339 |
2016 |
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
|
16534102 |
2006 |