SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Partial loss of ATP13A2 causes selective gliosis independent of robust lipofuscinosis.
|
29859891 |
2018 |
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Our study adds complicated hereditary spastic paraplegia (SPG78) to the clinical continuum of ATP13A2-associated neurological disorders, which are commonly hallmarked by lysosomal and mitochondrial dysfunction.
|
28137957 |
2017 |
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our study adds complicated hereditary spastic paraplegia (SPG78) to the clinical continuum of ATP13A2-associated neurological disorders, which are commonly hallmarked by lysosomal and mitochondrial dysfunction.
|
28137957 |
2017 |
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Reply: Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?
|
29112700 |
2017 |
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Our study adds complicated hereditary spastic paraplegia (SPG78) to the clinical continuum of ATP13A2-associated neurological disorders, which are commonly hallmarked by lysosomal and mitochondrial dysfunction.
|
28137957 |
2017 |
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Our study adds complicated hereditary spastic paraplegia (SPG78) to the clinical continuum of ATP13A2-associated neurological disorders, which are commonly hallmarked by lysosomal and mitochondrial dysfunction.
|
28137957 |
2017 |
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
|
27217339 |
2016 |
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
|
27217339 |
2016 |
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
|
27165006 |
2016 |
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
|
27217339 |
2016 |
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).
|
21696388 |
2012 |
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.
|
16964263 |
2006 |
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|