|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The aim of the present study is to substantiate the assertion that paroxysmal non-epileptic attacks resembling PSH also occur in patients with Juvenile Neuronal Ceroid Lipofuscinosis (JNCL, Batten disease), which is the most common neurodegenerative disease in children.
|
30072301 |
2018 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease, is a neurodegenerative disease resulting from a mutation in CLN3, which presents clinically with visual deterioration, seizures, motor impairments, cognitive decline, hallucinations, loss of circadian rhythm, and premature death in the late-twenties to early-thirties.
|
19230832 |
2009 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
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 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
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 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (CLN3 disease) is a hereditary progressive neurodegenerative disease well documented among Caucasians, but such clinical data and genetic characterization is lacking among Asian populations.
|
30053402 |
2018 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL, Batten disease) is the most common progressive neurodegenerative disorder of childhood.
|
18621045 |
2008 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Batten disease is a severe autosomal recessive neurodegenerative disease which results from mutations in CLN3.
|
15240430 |
2004 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in CLN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration, but have recently also been identified in patients with nonsyndromic inherited retinal degenerations.
|
28542676 |
2017 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Recently, the CLN3 gene associated with Batten disease (juvenile neuronal ceroid lipofuscinosis, JNCL), a recessively inherited, progressive, neurodegenerative disorder of childhood, has been identified.
|
9878558 |
1998 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
The neuronal ceroid lipofuscinoses (NCL) are a relatively frequent group of progressive neurodegenerative disorders in children with similar, but not identical, clinical and morphological features, entailing different clinical groups, some of which have been found to represent different genetic entities, ie, infantile (INCL) or CLN1, late-infantile (LINCL) or CLN2, juvenile (JNCL) or CLN3, and a Finnish variant of LINCL or CLN5.
|
8969009 |
1996 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Semi-structured interviews were conducted with 16 parents of a child suffering from the neurodegenerative disease CLN3.
|
28438074 |
2019 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
To gain an improved understanding of the pathways regulating defective autophagy specifically in juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease), a neurodegenerative disease of childhood, we developed and piloted a GFP-microtubule-associated protein 1 light chain 3 (GFP-LC3) screening assay to identify, in an unbiased fashion, genotype-sensitive small molecule autophagy modifiers, employing a JNCL neuronal cell model bearing the most common disease mutation in CLN3.
|
25878248 |
2015 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Juvenile neuronal ceroid-lipofuscinosis (JNCL, Batten disease, Spielmeyer-Vogt-Sjogren disease, CLN3) is the most common inherited, autosomal recessive, neurodegenerative disorder in man.
|
17896996 |
2007 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Batten disease (juvenile neuronal ceroid lipofuscinosis, JNCL), the most common neurodegenerative disease of childhood, is caused by mutations in the CLN3 gene encoding a putative transmembrane protein.
|
11590129 |
2001 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Defects of the CLN3 gene on chromosome 16p12.1 lead to the juvenile form of neuronal ceroid-lipofuscinosis (JNCL, Batten Disease), the most common recessive inherited neurodegenerative disorder in children.
|
20933060 |
2011 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most common group of neurodegenerative disorders of childhood.
|
21359416 |
2011 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the CLN3 gene are responsible for the neurodegenerative disorder Batten disease; however, the molecular basis of this disease remains unknown.
|
12023984 |
2002 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
JNCL is a neurodegenerative disease of childhood caused by mutations in the CLN3 gene.
|
10191119 |
1999 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
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 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
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 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL), also known as Batten disease, is a fatal inherited neurodegenerative disorder.
|
19243453 |
2009 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (CLN3 disease) is the most common neurodegenerative disorder in childhood with survival until young adult age.
|
30884409 |
2019 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We sought to test a novel, hybrid, single- and multi-site clinical trial design in the context of a trial for Juvenile Neuronal Ceroid Lipofuscinosis (CLN3 disease), a very rare pediatric neurodegenerative disorder.
|
31184505 |
2019 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Both CLN3 and CLN5 mouse models will provide experimental tools to resolve the pathological cascade in these neurodegenerative diseases.
|
12125809 |
2002 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (JNCL) is a childhood neurodegenerative disease with early-onset, severe central vision loss.
|
27400765 |
2016 |