|
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 |
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 |
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 |
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 |
UNIPROT |
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
|
27217339 |
2016 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
|
27165006 |
2016 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
SPG7 mutations are a common cause of undiagnosed ataxia.
|
25681447 |
2015 |
|
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 |
SPG7 mutations are a common cause of undiagnosed ataxia.
|
25681447 |
2015 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
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
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
|
25133958 |
2014 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Early-onset optic neuropathy as initial clinical presentation in SPG7.
|
25034272 |
2014 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Early-onset optic neuropathy as initial clinical presentation in SPG7.
|
25034272 |
2014 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.
|
24466038 |
2014 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
|
24727571 |
2014 |
|
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 |
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 |
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 |
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
|
0.930 |
GeneticVariation
|
disease |
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
|
0.930 |
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 |