|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
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 |
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.
|
18200586 |
2008 |
|
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
|
17646629 |
2007 |
|
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 |
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 |
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 |
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
|
21623769 |
2011 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
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
|
0.930 |
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 |
Biomarker
|
disease |
MGD |
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport.
|
14722615 |
2004 |
|
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 |
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 |
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 |
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
|
25133958 |
2014 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Functional evaluation of paraplegin mutations by a yeast complementation assay.
|
20186691 |
2010 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Functional evaluation of paraplegin mutations by a yeast complementation assay.
|
20186691 |
2010 |
|
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 |
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
|
22964162 |
2012 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
|
22964162 |
2012 |
|
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.
|
18563470 |
2008 |