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Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

Human Molecular Genetics

Jun 19, 2013

Peter BauerMarc C Patterson

Abstract

Niemann-Pick disease type C (NP-C) is a rare, autosomal-recessive, progressive neurological disease caused by mutations in either the NPC1 gene (in 95% of cases) or the NPC2 gene. This observational, multicentre genetic screening study evaluated the frequency and phenotypes of NP-C in c...read more

Mentioned in this Paper

Niemann-Pick Disease, Type C
NPC2 Gene (Procedure)
Filipin
Genetic Screening Method
NPC1 protein, human
NPC2 gene
cholestane-3,5,6-triol
Genetic Screening (Procedure)
Nucleic Acid Sequencing
Etiology
1
60
Paper Details
References
  • References24
  • Citations38
123
  • References24
  • Citations38
1234

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Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

Human Molecular Genetics

Jun 19, 2013

Peter BauerMarc C Patterson

PMID: 23773996

DOI: 10.1093/hmg/ddt284

Abstract

Niemann-Pick disease type C (NP-C) is a rare, autosomal-recessive, progressive neurological disease caused by mutations in either the NPC1 gene (in 95% of cases) or the NPC2 gene. This observational, multicentre genetic screening study evaluated the frequency and phenotypes of NP-C in c...read more

Mentioned in this Paper

Niemann-Pick Disease, Type C
NPC2 Gene (Procedure)
Filipin
Genetic Screening Method
NPC1 protein, human
NPC2 gene
cholestane-3,5,6-triol
Genetic Screening (Procedure)
Nucleic Acid Sequencing
Etiology
1
60

Feeds With Similar Papers

Neurodegeneration: Progranulin & Lipids

Progranulin is a secreted growth factor involved in inflammation, wound healing, cancer, and for its neurotrophic properties. Along with lipids (fats), these molcules are associated with neurodegenerative processes. Here are the latest discoveries pertaining to these molecules and neurodegeneration.

Related Papers

Molecular Genetics and Metabolism

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update(opens in new tab)

Molecular Genetics and MetabolismMay 11, 2012
Marc C PattersonNP-C Guidelines Working Group
Molecular Genetics and Metabolism

The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear(opens in new tab)

Molecular Genetics and MetabolismSeptember 5, 2013
Ayumi TakamuraYoshikatsu Eto
Paper Details
References
  • References24
  • Citations38
123
  • References24
  • Citations38
1234

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