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CLN3 gene

Known as: JNCL, CLN3, juvenile neuronal ceroid lipofuscinosis 
 
National Institutes of Health

Papers overview

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2009
2009
Mutations in the gene CLN3 are responsible for the neurodegenerative disorder juvenile neuronal ceroid lipofuscinosis or Batten… Expand
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2009
2009
The juvenile neuronal ceroid lipofuscinosis (JNCL, Batten disease, MIM 204200), is an autosomal recessive lysosomal storage… Expand
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2008
2008
Juvenile neuronal ceroid lipofuscinoses (JNCL), commonly known as Batten disease, is a progressive neurodegenerative disorder of… Expand
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Highly Cited
2006
Highly Cited
2006
Juvenile neuronal ceroid lipofuscinosis is caused by mutation of a novel, endosomal/lysosomal membrane protein encoded by CLN3… Expand
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Highly Cited
2002
Highly Cited
2002
Juvenile-onset neuronal ceroid lipofuscinosis (JNCL; Batten disease) features hallmark membrane deposits and loss of central… Expand
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2000
2000
Maintenance of the appropriate pH in the intracellular vacuolar compartments is essential for normal cell function. Here, we… Expand
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1999
1999
CLN3 gene, associated with juvenile neuronal ceroid lipofuscinosis, encodes a novel protein of a predicted 438 amino acid… Expand
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1998
1998
Mannose 6-phosphate (Man-6-P) is a carbohydrate modification that is generated on newly synthesized lysosomal proteins. This… Expand
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Highly Cited
1997
Highly Cited
1997
Batten disease (juvenile-onset neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive condition characterized by… Expand
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Review
1993
Review
1993
The progressive myoclonus epilepsies (PMEs) are a group of rare genetic disorders previously shrouded in nosological confusion… Expand
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