Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
JNCL is caused by CLN3 gene mutations that negatively modulate cell growth/apoptosis.
|
18317235 |
2008 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Batten disease is an inherited disorder characterized by early onset neurodegeneration due to the mutation of the CLN3 gene.
|
22692827 |
2012 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Juvenile Batten disease (juvenile neuronal ceroid lipofuscinosis, JNCL) is a devastating neurodegenerative disease caused by mutations in CLN3, a protein of undefined function.
|
24792215 |
2014 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Batten disease (juvenile-onset neuronal ceroid lipofuscinosis; JNCL) is an autosomal recessive neurodegenerative disorder, characterized by the cytosomal accumulation of autofluorescent proteolipopigments in neurons and other cell types.
|
7668357 |
1995 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Batten disease (juvenile-onset neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive condition characterized by accumulation of lipopigments (lipofuscin and ceroid) in neurons and other cell types.
|
9311735 |
1997 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a progressive neurologic disorder which results from mutations in the CLN3 gene, which normally produces a 48-kDa polypeptide of unknown function.
|
10191116 |
1999 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL), Batten disease, is an autosomal recessive lysosomal storage disease associated with mutations in CLN3.
|
10749980 |
2000 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease, is a pediatric neurodegenerative disease characterized by vision loss, seizure activity, cognitive decline, and premature death.
|
12366726 |
2002 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL) is an autosomal recessively inherited lysosomal storage disease involving a mutation in the CLN3 gene.
|
14622109 |
2003 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
MGD |
Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten Disease) is one of the most common progressive neurodegenerative disorders of childhood, resulting from autosomal recessive inheritance of mutations in the CLN3 gene.
|
15326100 |
2004 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid-lipofuscinosis (JNCL) or Batten/Spielmeyer-Vogt-Sjogren disease (OMIM #204200) is one of a group of nine clinically related inherited neurodegenerative disorders (CLN1-9).
|
16515873 |
2006 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a neurodegenerative disorder caused by defective function of the lysosomal membrane glycoprotein CLN3.
|
17868323 |
2007 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update.
|
17896996 |
2007 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
btn1, the Schizosaccharomyces pombe orthologue of the human Batten-disease gene CLN3, is involved in vacuole pH homeostasis.
|
18697832 |
2008 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
CLN3 is therefore essential for trafficking along the route needed for delivery of lysosomal enzymes, and its loss thereby contributes to and may explain the lysosomal dysfunction underlying Batten disease.
|
18817525 |
2008 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
BTN1, the Saccharomyces cerevisiae homolog to the human Batten disease gene, is involved in phospholipid distribution.
|
22107873 |
2012 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL) is characterized by severe visual impairment with onset around age 4-8 years, and a developmental course that includes blindness, epilepsy, speech problems, dementia, motor coordination problems, and emotional reactions.
|
23470553 |
2013 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) is a rare, inherited, fatal lysosomal storage childhood disorder.
|
23628560 |
2013 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL) is a lysosomal storage disease caused by an autosomal recessive mutation in CLN3.
|
23919525 |
2013 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal-ceroid-lipofuscinosis (JNCL) is a lysosomal storage disease caused by mutations in CLN3.
|
26360874 |
2015 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL) is a fatal lysosomal storage disease caused by CLN3 mutations.
|
27629717 |
2016 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease) caused by mutations in the <i>CLN3</i> gene is the most prevalent inherited neurodegenerative disease in childhood resulting in widespread central nervous system dysfunction and premature death.
|
29135436 |
2017 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the <i>CLN3</i> gene.
|
29470438 |
2018 |