|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5.
|
24058541 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).
|
10953198 |
2000 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
|
19309691 |
2009 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation.
|
22727047 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
|
23374165 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells.
|
20052765 |
2010 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.
|
12134079 |
2002 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].
|
22532218 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
|
18684116 |
2008 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CLN5 underlie CLN5 disease.
|
28487519 |
2017 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CLN5 gene are responsible for the Finnish variant late-infantile form of NCL (Finnish vLINCL).
|
28442266 |
2017 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
|
9662406 |
1998 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
|
24038957 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
|
26342652 |
2015 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells.
|
20052765 |
2010 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.
|
17607606 |
2007 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.
|
15728307 |
2005 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.
|
20157158 |
2010 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.
|
24038957 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.
|
16814585 |
2006 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells.
|
20052765 |
2010 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5.
|
26342652 |
2015 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |