FAQ

CEROID LIPOFUSCINOSIS, NEURONAL, 5

Known as: Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset, Neuronal ceroid lipofuscinosis, Finnish variant, late infantile, Ceroid lipofuscinosis, neuronal 5 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1991-2018
024619912018

Related topics

Related topics

11 relations
AtaxiaAutosomal recessive inheritanceCEROID LIPOFUSCINOSIS, NEURONAL, 6CLN5 gene
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Broader (1)

Neuronal Ceroid-Lipofuscinoses

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
CEROID LIPOFUSCINOSIS, NEURONAL, 5
Seizures
Ataxia
Autosomal recessive inheritance
Mental Retardation
Myoclonus

Papers overview

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2009
2009
Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins
Neuronal ceroid lipofuscinoses (NCLs) comprise at least eight genetically characterized neurodegenerative disorders of childhood… (More)
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2009
2009
Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2.
Mutations in CLN6 cause variant late-onset neuronal ceroid lipofuscinosis (vLINCL), a childhood neurodegenerative disorder… (More)
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2008
2008
A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3.
Batten disease (neuronal ceroid lipofuscinoses, NCLs) are a group of inherited childhood diseases that result in severe brain… (More)
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2006
2006
A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA.
The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are a group of fatal recessively inherited neurodegenerative diseases… (More)
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2006
2006
Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene.
The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are recessively inherited neurodegenerative disorders that affect… (More)
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2004
2004
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging.
Neuronal ceroid lipofuscinoses (NCL) comprise the most common group of childhood encephalopathies caused by mutations in eight… (More)
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2003
2003
Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population
A series of 53 Portuguese patients (derived from 43 families) born in the period 1963–1999 have been diagnosed with neuronal… (More)
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2002
2002
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.
Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative storage diseases characterized by mental retardation, visual failure… (More)
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Highly Cited
1998
Highly Cited
1998
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
The neuronal ceroid lipofuscinoses (NCLs) represent a group of common recessive inherited neurodegenerative disorders of… (More)
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1997
1997
Variant late infantile neuronal ceroid-lipofuscinosis: pathology and biochemistry.
The neuronal ceroid-lipofuscinoses (NCL) are among the most common inherited neurodegenerative disorders of childhood. The… (More)
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