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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
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National Institutes of Health
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Related topics
Related topics
11 relations
Ataxia
Autosomal recessive inheritance
CEROID LIPOFUSCINOSIS, NEURONAL, 6
CLN5 gene
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Broader (1)
Neuronal Ceroid-Lipofuscinoses
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2006
2006
Absence of Tight Junctions between Microvascular Endothelial Cells in Human Cerebellar Hemangioblastomas
Yizhao Chen
,
O. Tachibana
,
+5 authors
J. Takahashi
Neurosurgery
2006
Corpus ID: 2612457
OBJECTIVE:Endothelial tight junctions form the main barrier of the blood-brain barrier (BBB). In human hemangioblastomas, cyst…
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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…
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2001
2001
Sleep and Its Disturbance in a Variant Form of Late Infantile Neuronal Ceroid Lipofuscinosis (CLNS)
E. Kirveskari
,
M. Partinen
,
P. Santavuori
Journal of Child Neurology
2001
Corpus ID: 405384
To examine the nature of sleep disturbance in patients with a variant form of late infantile neuronal ceroid lipofuscinosis (CLNS…
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2000
2000
Lymphocyte inclusions in Finnish-variant late infantile neuronal ceroid lipofuscinosis (CLN5).
J. Rapola
,
B. Lake
Neuropediatrics
2000
Corpus ID: 36918695
Electron microscopic reinvestigation of archival samples of peripheral blood lymphocytes of four patients with Finnish-variant…
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1999
1999
Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCLFinnish; CLN5)
J. Rapola
,
J. Lähdetie
,
J. Isosomppi
,
P. Helminen
,
M. Penttinen
,
I. Järvelä
Prenatal Diagnosis
1999
Corpus ID: 11398291
The first prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCLFinnish; CLN5) is reported. The…
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1998
1998
Prenatally detected paternal uniparental chromosome 13 isodisomy
I. Järvelä
,
M. Savukoski
,
P. Ämmälä
,
H. von Koskull
Prenatal Diagnosis
1998
Corpus ID: 25289711
A 13q isodisomy in a balanced karyotype: 45, XY,‐13,‐13,+i(13)(q10) was found in cultured amniocytes studied because of advanced…
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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.
T. Klockars
,
J. Isosomppi
,
M. Laan
,
N. Kakko
,
A. Palotie
,
L. Peltonen
Genomics
1997
Corpus ID: 37913414
Chromosome 13 is one of the poorly mapped human chromosomes. As an example, only two cloned genes have been assigned to bands…
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1996
1996
Utilization of FISH in positional cloning: an example on 13q22.
M. Laan
,
J. Isosomppi
,
T. Klockars
,
L. Peltonen
,
A. Palotie
Genome Research
1996
Corpus ID: 22501066
In positional cloning the initial assignment of a gene to a specific chromosomal locus is followed by physical mapping of the…
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Review
1995
Review
1995
The neuronal ceroid-lipofuscinoses.
H. Goebel
Journal of Child Neurology
1995
Corpus ID: 21535648
The neuronal ceroid-lipofuscinoses, a group of progressive neurodegenerative diseases in children and in adults, have now been…
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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…
R. Williams
,
P. Santavuori
,
L. Peltonen
,
R. Gardiner
,
I. Järvelä
Genomics
1994
Corpus ID: 21824564
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders characterized by the accumulation…
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