|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
CLN1 disease (MIM#256730) is caused by mutations in the CLN1 gene, which encodes palmitoyl protein thioesterase 1 (PPT1).
|
25865307 |
2015 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis.
|
23857568 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.
|
9571187 |
1998 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.
|
9571187 |
1998 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease.
|
11506414 |
2001 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Analysis of NCL Proteins from an Evolutionary Standpoint.
|
19440452 |
2008 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.
|
11440996 |
2001 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.
|
11440996 |
2001 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.
|
12796825 |
2003 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).
|
10679943 |
2000 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).
|
10679943 |
2000 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons.
|
17565660 |
2007 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.
|
10649502 |
2000 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.
|
10649502 |
2000 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
Biomarker
|
disease |
BEFREE |
Infantile neuronal ceroid lipofuscinosis (INCL, infantile Batten disease, or infantile CLN1 disease) is caused by a deficiency in the soluble lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1) and has the earliest onset and fastest progression of all the NCLs.
|
23747979 |
2013 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Infantile neuronal ceroid lipofuscinosis (INCL, or CLN1 disease) is an inherited neurodegenerative storage disorder caused by a deficiency of the lysosomal enzyme palmitoyl protein thioesterase 1 (PPT1).
|
28673981 |
2017 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series.
|
22387303 |
2012 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
|
21499717 |
2011 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
|
21499717 |
2011 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
Biomarker
|
disease |
MGD |
Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons.
|
15649713 |
2005 |
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
|
10477428 |
1999 |