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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

Broader (1)

Neuronal Ceroid-Lipofuscinoses

Papers overview

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2006
2006
Absence of Tight Junctions between Microvascular Endothelial Cells in Human Cerebellar Hemangioblastomas
OBJECTIVE:Endothelial tight junctions form the main barrier of the blood-brain barrier (BBB). In human hemangioblastomas, cyst… 
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
Sleep and Its Disturbance in a Variant Form of Late Infantile Neuronal Ceroid Lipofuscinosis (CLNS)
To examine the nature of sleep disturbance in patients with a variant form of late infantile neuronal ceroid lipofuscinosis (CLNS… 
2000
2000
Lymphocyte inclusions in Finnish-variant late infantile neuronal ceroid lipofuscinosis (CLN5).
Electron microscopic reinvestigation of archival samples of peripheral blood lymphocytes of four patients with Finnish-variant… 
1999
1999
Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCLFinnish; CLN5)
The first prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCLFinnish; CLN5) is reported. The… 
1998
1998
Prenatally detected paternal uniparental chromosome 13 isodisomy
A 13q isodisomy in a balanced karyotype: 45, XY,‐13,‐13,+i(13)(q10) was found in cultured amniocytes studied because of advanced… 
1997
1997
The visual assignment of genes by fiber-fish: BTF3 protein homologue gene (BTF3) and a novel pseudogene of human RNA helicase A (DDX9P) on 13q22.
Chromosome 13 is one of the poorly mapped human chromosomes. As an example, only two cloned genes have been assigned to bands… 
1996
1996
Utilization of FISH in positional cloning: an example on 13q22.
In positional cloning the initial assignment of a gene to a specific chromosomal locus is followed by physical mapping of the… 
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… 
1994
1994
A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome…
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation… 
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