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

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 disease type C clinical database: cognitive and coordination deficits are early disease indicators

(2013) Miriam Stampfer et al.   Orphanet Journal of Rare Diseases

Disease and patient characteristics in NP-C patients: findings from an international disease registry

(2013) Marc C Patterson et al.   Orphanet Journal of Rare Diseases

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

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

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

(2012) Saskia B Wortmann et al.   NATURE GENETICS

Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C

(2012) F. A. Wijburg et al.   NEUROLOGY

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

(2012) Bénédicte Héron et al.   Orphanet Journal of Rare Diseases

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

(2012) Mark Walterfang et al.   Orphanet Journal of Rare Diseases

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients

(2010) Marie T. Vanier et al.   CLINICAL GENETICS

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

(2010) Helena Poupětová et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes

(2009) William S. Garver et al.   JOURNAL OF LIPID RESEARCH

Recommendations on the diagnosis and management of Niemann-Pick disease type C

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study

(2009) J.E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

Diagnosis of Niemann–Pick type C (NPC) – Decisions at the cell level. Pathologist’s report

(2009) Milan Elleder   MOLECULAR GENETICS AND METABOLISM