SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
We now describe a baculovirus-insect cell system that yields mgs of pure human P5CS and that has proven highly valuable with two novel P5CS mutations reported here in new SPG9B patients.
|
31402623 |
2019 |
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mitochondrial medicine in the omics era.
|
29903433 |
2018 |
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
|
26297558 |
2016 |
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
|
26026163 |
2015 |
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
|
26026163 |
2015 |
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
De Barsy syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mitochondrial medicine in the omics era.
|
29903433 |
2018 |
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mitochondrial medicine in the omics era.
|
29903433 |
2018 |
De Barsy syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
|
26297558 |
2016 |
De Barsy syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
|
26297558 |
2016 |
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
|
26297558 |
2016 |
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
|
26297558 |
2016 |
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
|
26297558 |
2016 |
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
|
26297558 |
2016 |
De Barsy syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
|
26026163 |
2015 |
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
|
26026163 |
2015 |
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
|
26320891 |
2015 |
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
|
26026163 |
2015 |
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
|
26026163 |
2015 |
De Barsy syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
An atlas of genetic influences on human blood metabolites.
|
24816252 |
2014 |
De Barsy syndrome
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
|
24767728 |
2014 |
De Barsy syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
|
24767728 |
2014 |
De Barsy syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.
|
24913064 |
2014 |
De Barsy syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
|
22829427 |
2013 |