|
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 |