CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
Biomarker
|
disease |
BEFREE |
CLN8 deficiency causes a subtype of NCL, referred to as CLN8 disease.
|
30453012 |
2019 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
CLINVAR |
CLN8 disease caused by large genomic deletions.
|
28116333 |
2017 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.
|
26443629 |
2016 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
CLINVAR |
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
|
26075876 |
2015 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease, EPMR (progressive epilepsy with mental retardation), and the more severe CLN8 disease, late infantile variant.
|
21990111 |
2012 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GermlineCausalMutation
|
disease |
ORPHANET |
Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease, EPMR (progressive epilepsy with mental retardation), and the more severe CLN8 disease, late infantile variant.
|
21990111 |
2012 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
CLINVAR |
Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.
|
22220808 |
2012 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
CLINVAR |
Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease, EPMR (progressive epilepsy with mental retardation), and the more severe CLN8 disease, late infantile variant.
|
21990111 |
2012 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease, EPMR (progressive epilepsy with mental retardation), and the more severe CLN8 disease, late infantile variant.
|
21990111 |
2012 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
|
19807737 |
2010 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
CLINVAR |
Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
|
19807737 |
2010 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
|
19201763 |
2009 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
|
19201763 |
2009 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.
|
19431184 |
2009 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
CLINVAR |
Molecular genetics of the NCLs -- status and perspectives.
|
16828266 |
2006 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
BEFREE |
Our findings expand the number of CLN8 variants and corroborate the notion that CLN8 patients are not confined to the Finnish population.
|
16570191 |
2006 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
Our findings expand the number of CLN8 variants and corroborate the notion that CLN8 patients are not confined to the Finnish population.
|
16570191 |
2006 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our findings expand the number of CLN8 variants and corroborate the notion that CLN8 patients are not confined to the Finnish population.
|
16570191 |
2006 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
CLINVAR |
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
|
15024724 |
2004 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
CLINVAR |
Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.
|
15160397 |
2004 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
|
15024724 |
2004 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
Biomarker
|
disease |
BEFREE |
Two types of NCL have so-far been found almost exclusively in Finland: Finnish variant late infantile NCL, vLINCL (CLN5), and the Northern epilepsy syndrome or Progressive epilepsy with mental retardation, EPMR (CLN8).
|
11332769 |
2001 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
GeneticVariation
|
disease |
CLINVAR |
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.
|
10861296 |
2000 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
0.940 |
Biomarker
|
disease |
MGD |
An early-onset congenic strain of the motor neuron degeneration (mnd) mouse.
|
10191135 |
1999 |