|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
|
21990111 |
2012 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Our findings now expand the phenotypes related to TPP1-variants to SCAR7.
|
23418007 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
|
23418007 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.
|
10356316 |
1999 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
|
10330339 |
1999 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
|
15317752 |
2004 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses.
|
22245569 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
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, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies.
|
28464005 |
2017 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children.
|
10862088 |
2000 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis.
|
9788728 |
1998 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.
|
11339651 |
2001 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
|
23266810 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
|
18684116 |
2008 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.
|
12950156 |
2003 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles.
|
12414822 |
2002 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
|
9295267 |
1997 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
There are 35 missense mutations among 68 different mutations in the TPP1 gene, which encodes tripeptidyl peptidase I (TPPI), a lysosomal aminopeptidase associated with classic late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).
|
20340139 |
2010 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.
|
19038966 |
2009 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.
|
12376936 |
2002 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
|
23539563 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders.
|
11589013 |
2001 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.
|
18283468 |
2008 |