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CEROID LIPOFUSCINOSIS, NEURONAL, 6

Known as: vLINCL, Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant, Ceroid Lipofuscinosis, Neuronal, 6, Variable Age At Onset 
National Institutes of Health

Related topics

Related topics

7 relations
Autosomal recessive inheritanceCEROID LIPOFUSCINOSIS, NEURONAL, 5CLN6 geneMental deterioration

Broader (1)

Neuronal Ceroid-Lipofuscinoses

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
[Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy].
Objective: To identify the pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic… 
2011
2011
The specific loss of GnRH-positive neurons from the hypothalamus of sheep with CLN6 neuronal ceroid lipofuscinosis occurs without glial activation and has only minor effects on reproduction
2009
2009
Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease)
2008
2008
Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile.
2005
2005
Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease.
The neuronal ceroid lipofuscinoses (NCLs, also known collectively as Batten disease) are a group of lysosomal storage disorders… 
2005
2005
Characterization of candidate genes for neuronal ceroid lipofuscinosis in dog.
The neuronal ceroid lipofuscinoses (NCL) are a heterogenous group of monogenic autosomal recessive inherited progressive… 
2001
2001
Neuronal ceroid lipofuscinosis in Australian Merino sheep: a new animal model.
In 1997, neuronal ceroid lipofuscinosis (NCL) was identified for the first time in Merino sheep in Australia. A homozygosity… 
2001
2001
Fine mapping of ovine ceroid lipofuscinosis confirms orthology with CLN6.
The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases with severe neurodegenerative pathology. An ovine model… 
2001
2001
Analysis of candidate genes in the CLN6 critical region using in silico cloning.
CLN6, the gene for variant late infantile neuronal ceroid lipofuscinosis, was mapped to a 4 cM region on chromosome 15q22-23… 
1999
1999
Progress toward the cloning of CLN6, the gene underlying a variant LINCL.
Marked clinical heterogeneity is seen in the late-infantile subtype of NCL (LINCL), complicating genetic analysis. In addition to… 
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