|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.710 |
GeneticVariation
|
BEFREE |
Collectively, these assessments indicate that the Cln2R207X/R207X mouse is a valid CLN2 disease model which can be used for the preclinical evaluation of all therapeutic approaches including mutation guided therapies.
|
28464005 |
2017 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Collectively, these assessments indicate that the Cln2R207X/R207X mouse is a valid CLN2 disease model which can be used for the preclinical evaluation of all therapeutic approaches including mutation guided therapies.
|
28464005 |
2017 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
|
23539563 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.710 |
CausalMutation
|
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
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
|
15317752 |
2004 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.710 |
CausalMutation
|
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
|
|
0.710 |
CausalMutation
|
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
|
|
0.710 |
CausalMutation
|
CLINVAR |
Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis.
|
9788728 |
1998 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
|
9295267 |
1997 |
|
Neuronal Ceroid-Lipofuscinoses
|
|
0.700 |
CausalMutation
|
CLINVAR |
The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.
|
23539563 |
2013 |
|
Neuronal Ceroid-Lipofuscinoses
|
|
0.700 |
CausalMutation
|
CLINVAR |
Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.
|
18283468 |
2008 |
|
Neuronal Ceroid-Lipofuscinoses
|
|
0.700 |
CausalMutation
|
CLINVAR |
We analyzed the functional consequences of the mutations R127Q, R208X, N286S, I287N, T353P and Q422H, which were previously identified in patients with late infantile ceroid lipofuscinosis, with regard to enzymatic activity, stability, post-translational processing and intracellular localization of tripeptidyl-peptidase I.
|
15317752 |
2004 |
|
Neuronal Ceroid-Lipofuscinoses
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
|
10330339 |
1999 |
|
Neuronal Ceroid-Lipofuscinoses
|
|
0.700 |
CausalMutation
|
CLINVAR |
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
|
9295267 |
1997 |
|
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
Collectively, these assessments indicate that the Cln2R207X/R207X mouse is a valid CLN2 disease model which can be used for the preclinical evaluation of all therapeutic approaches including mutation guided therapies.
|
28464005 |
2017 |
|
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.
|
12950156 |
2003 |
|
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
The previously reported nonsense mutation, 636 C-->T leading to R208stop, was found in 31% (5/16) of the cases, including one homozygote and accounted for 19% (6/32) of LINCL chromosomes.
|
9788728 |
1998 |