High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Collaborative Development of 2-Hydroxypropyl-β-Cyclodextrin for the Treatment of Niemann-Pick Type C1 Disease

(2014) Elizabeth Ottinger et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker

(2014) Danielle te Vruchte et al.   JOURNAL OF CLINICAL INVESTIGATION

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

(2014) Helena Jahnova et al.   Orphanet Journal of Rare Diseases

Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review

(2014) Olivier Bonnot et al.   Orphanet Journal of Rare Diseases

Potential Pitfalls and Solutions for Use of Fluorescent Fusion Proteins to Study the Lysosome

(2014) Ling Huang et al.   PLoS One

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

(2013) P. Bauer et al.   HUMAN MOLECULAR GENETICS

Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy

(2013) J. Schicks et al.   NEUROLOGY

Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders

(2013) Michael Zech et al.   PLoS One

Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes

(2012) Nasser M Al-Daghri et al.   BMC Medicine

δ-Tocopherol Reduces Lipid Accumulation in Niemann-Pick Type C1 and Wolman Cholesterol Storage Disorders

(2012) Miao Xu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

(2012) Marc C. Patterson et al.   MOLECULAR GENETICS AND METABOLISM

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

An “Exacerbate-reverse” Strategy in Yeast Identifies Histone Deacetylase Inhibition as a Correction for Cholesterol and Sphingolipid Transport Defects in Human Niemann-Pick Type C Disease

(2011) Andrew B. Munkacsi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage

(2011) Carolina Tängemo et al.   JOURNAL OF LIPID RESEARCH

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts

(2011) N. H. Pipalia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

I-TASSER: a unified platform for automated protein structure and function prediction

(2010) Ambrish Roy et al.   Nature Protocols

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease

(2010) F. D. Porter et al.   Science Translational Medicine

Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

(2009) Hyock Joo Kwon et al.   CELL

The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine

(2009) L. G. Biesecker et al.   GENOME RESEARCH

Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations

(2009) David Meyre et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms

(2008) C. Chelala et al.   BIOINFORMATICS

Sonographisch echodichte Milztumoren: Knotige Manifestation eines Morbus Niemann-Pick Typ C

(2008) E. Fröhlich et al.   ULTRASCHALL IN DER MEDIZIN