Niemann-Pick Disease, Type C1

Known as: NPC1, Niemann Pick disease, Subacute Juvenile Form, Niemann-Pick disease, Subacute Juvenile Form 
Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.

Topic mentions per year

Topic mentions per year

1992-2017
020406019922017

Papers overview

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2014
2014
OBJECTIVES The aim of this study was to comprehensively evaluate the auditory phenotype in Niemann-Pick disease, type C1 (NPC1… (More)
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2013
2013
Niemann-Pick disease, type C1 (NPC1) is an autosomal recessive lipid storage disorder in which a pathological cascade, including… (More)
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2013
2013
Autophagy dysfunction has been implicated in misfolded protein accumulation and cellular toxicity in several diseases. Whether… (More)
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Highly Cited
2011
Highly Cited
2011
Infections by the Ebola and Marburg filoviruses cause a rapidly fatal haemorrhagic fever in humans for which no approved… (More)
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Highly Cited
2011
Highly Cited
2011
Ebola virus (EboV) is a highly pathogenic enveloped virus that causes outbreaks of zoonotic infection in Africa. The clinical… (More)
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2009
2009
Niemann-Pick disease type C1 (NPC1) is a neurodegenerative lysosomal disorder characterized by sphingolipid and cholesterol… (More)
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Highly Cited
2008
Highly Cited
2008
Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder caused by mutations in the acidic… (More)
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Highly Cited
2001
Highly Cited
2001
Niemann-Pick type C (NPC) disease is a cholesterol lipidosis caused by mutations in NPC1 and NPC2 gene loci. Most human cases are… (More)
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2001
2001
Niemann-Pick type C1 (NPC1) disease results from a defect in the NPC1 protein and is characterized by a pathological accumulation… (More)
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Highly Cited
1997
Highly Cited
1997
Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by lysosomal accumulation of low density… (More)
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