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 |
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 |
GeneticVariation
|
group |
BEFREE |
CLN3 mutations cause the fatal neurodegenerative disorder, CLN3 Batten disease.
|
31628420 |
2019 |
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 |
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 |
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 |
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) is a childhood neurodegenerative disease with early-onset, severe central vision loss.
|
27400765 |
2016 |
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 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 |
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 |
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 |
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 |
GeneticVariation
|
group |
BEFREE |
Mutations in the gene CLN3 are responsible for the neurodegenerative disorder juvenile neuronal ceroid lipofuscinosis or Batten disease.
|
19028667 |
2009 |
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 |
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 |
Biomarker
|
group |
BEFREE |
Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a neurodegenerative disorder caused by defective function of the lysosomal membrane glycoprotein CLN3.
|
17868323 |
2007 |
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 |
Mutations in the CLN3 gene, which encodes a lysosomal membrane protein, are responsible for the neurodegenerative disorder juvenile Batten disease.
|
16251196 |
2005 |
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), or Batten disease, is a childhood neurodegenerative disease that is characterized clinically by progressive visual loss, seizures, dementia, and motor incoordination.
|
16087292 |
2005 |
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 |
Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten Disease) is the most common progressive neurodegenerative disorder of childhood.
|
12559844 |
2003 |
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 |