Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 227,741,300 papers from all fields of science
Search
Sign In
Create Free Account
CEROID LIPOFUSCINOSIS, NEURONAL, 6
Known as:
vLINCL
, Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant
, Ceroid Lipofuscinosis, Neuronal, 6, Variable Age At Onset
Expand
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
7 relations
Autosomal recessive inheritance
CEROID LIPOFUSCINOSIS, NEURONAL, 5
CLN6 gene
Mental deterioration
Expand
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].
J. Zhang
,
Y. H. Zhang
,
+6 authors
X. Wu
Zhonghua er ke za zhi = Chinese journal of…
2019
Corpus ID: 195191466
Objective: To identify the pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic…
Expand
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
G. W. Kay
,
N. Jay
,
D. Palmer
Neurobiology of Disease
2011
Corpus ID: 40536354
2009
2009
Neuropeptide changes and neuroactive amino acids in CSF from humans and sheep with neuronal ceroid lipofuscinoses (NCLs, Batten disease)
G. W. Kay
,
M. Verbeek
,
Julie M. Furlong
,
M. Willemsen
,
D. Palmer
Neurochemistry International
2009
Corpus ID: 35856409
2008
2008
Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile.
I. A. Cismondi
,
R. Kohan
,
A. Ghio
,
Ana M Oller Ramirez
,
I. N. Halac
Human Genetics
2008
Corpus ID: 6353241
2005
2005
Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease.
Steve K. Cho
,
Ningguo Gao
,
D. Pearce
,
M. Lehrman
,
S. Hofmann
Glycobiology
2005
Corpus ID: 9421725
The neuronal ceroid lipofuscinoses (NCLs, also known collectively as Batten disease) are a group of lysosomal storage disorders…
Expand
2005
2005
Characterization of candidate genes for neuronal ceroid lipofuscinosis in dog.
C. Drögemüller
,
A. Wöhlke
,
O. Distl
Journal of Heredity
2005
Corpus ID: 30200745
The neuronal ceroid lipofuscinoses (NCL) are a heterogenous group of monogenic autosomal recessive inherited progressive…
Expand
2001
2001
Neuronal ceroid lipofuscinosis in Australian Merino sheep: a new animal model.
I. Tammen
,
R. Cook
,
F. Nicholas
,
H. Raadsma
European journal of paediatric neurology
2001
Corpus ID: 4524440
In 1997, neuronal ceroid lipofuscinosis (NCL) was identified for the first time in Merino sheep in Australia. A homozygosity…
Expand
2001
2001
Fine mapping of ovine ceroid lipofuscinosis confirms orthology with CLN6.
M. Broom
,
C. Zhou
European journal of paediatric neurology
2001
Corpus ID: 4554216
The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases with severe neurodegenerative pathology. An ovine model…
Expand
2001
2001
Analysis of candidate genes in the CLN6 critical region using in silico cloning.
J. Sharp
,
R. Wheeler
,
+4 authors
R. Gardiner
European journal of paediatric neurology
2001
Corpus ID: 40850765
CLN6, the gene for variant late infantile neuronal ceroid lipofuscinosis, was mapped to a 4 cM region on chromosome 15q22-23…
Expand
1999
1999
Progress toward the cloning of CLN6, the gene underlying a variant LINCL.
K. J. Auger
,
A. Ajene
,
T. Lerner
Molecular Genetics and Metabolism
1999
Corpus ID: 29023604
Marked clinical heterogeneity is seen in the late-infantile subtype of NCL (LINCL), complicating genetic analysis. In addition to…
Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
(opens in a new tab)
,
Terms of Service
(opens in a new tab)
, and
Dataset License
(opens in a new tab)
ACCEPT & CONTINUE