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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

Related topics

Related topics

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

Neuronal Ceroid-Lipofuscinoses

Papers overview

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Review
2013
Review
2013
Human pathology in NCL.
In childhood the neuronal ceroid lipofuscinoses (NCL) are the most frequent lysosomal diseases and the most frequent… Expand
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2010
2010
The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.
Neuronal ceroid lipofuscinoses (NCLs) represent a group of children's inherited neurodegenerative disorders caused by mutations… Expand
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Highly Cited
2008
Highly Cited
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… Expand
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Highly Cited
2005
Highly Cited
2005
A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs.
Neuronal ceroid lipofuscinosis (NCL) is a neurodegenerative disease found in Border collie dogs, humans, and other animals… Expand
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Highly Cited
2004
Highly Cited
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… Expand
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Review
2004
Review
2004
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
The neuronal ceroid lipofuscinoses (NCL), also known as Batten disease, are a group of inherited severe neurodegenerative… Expand
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Highly Cited
2002
Highly Cited
2002
Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.
The Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCL) belongs to the neuronal ceroid lipofuscinosis group of… Expand
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Highly Cited
2002
Highly Cited
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… Expand
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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… Expand
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Review
1995
Review
1995
The neuronal ceroid-lipofuscinoses.
The neuronal ceroid-lipofuscinoses, a group of progressive neurodegenerative diseases in children and in adults, have now been… Expand
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