CEROID LIPOFUSCINOSIS, NEURONAL, 6

Known as: vLINCL, Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant, Ceroid Lipofuscinosis, Neuronal, 6, Variable Age At Onset 
 
National Institutes of Health

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Autosomal recessive inheritanceCEROID LIPOFUSCINOSIS, NEURONAL, 5CLN6 geneMental deterioration
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Neuronal Ceroid-Lipofuscinoses

Papers overview

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2013
2013
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
Kufs disease, an adult-onset neuronal ceroid lipofuscinosis, is challenging to diagnose and genetically heterogeneous. Mutations… (More)
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2011
2011
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the childhood-onset forms of… (More)
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2011
2011
A Missense Mutation in Canine CLN6 in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis
The childhood neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative diseases that are progressive and ultimately… (More)
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2009
2009
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
The neuronal ceroid lipofuscinoses (NCLs), the most common neurodegenerative disorders of childhood, are characterized by the… (More)
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Highly Cited
2007
Highly Cited
2007
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
The late-infantile-onset forms are the most genetically heterogeneous group among the autosomal recessively inherited… (More)
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2007
2007
Neuronal Ceroid Lipofuscinosis: A Common Pathway?
The neuronal ceroid lipofuscinoses are pediatric neurodegenerative diseases with common clinical features. Of the nine clinical… (More)
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2005
2005
Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6)
The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are fatal inherited neurodegenerative diseases characterized by gross… (More)
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Highly Cited
2002
Highly Cited
2002
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.
The CLN6 gene that causes variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a recessively inherited… (More)
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Highly Cited
2002
Highly Cited
2002
The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.
The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases characterized by the… (More)
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1998
1998
Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9.
The neuronal ceroid lipofuscinoses (NCLs) comprise a set of at least 6 distinct human and an unknown number of animal diseases… (More)
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