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

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

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

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

In response to “current approach to seronegative myasthenia” by Z. Argov

(2010) Michal Haran   JOURNAL OF NEUROLOGY

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

Internuclear and supranuclear disorders of eye movements: clinical features and causes

(2009) M. Karatas   EUROPEAN JOURNAL OF NEUROLOGY

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

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

Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

(2009) M. Pineda 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

Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

(2009) M. Pineda et al.   MOLECULAR GENETICS AND METABOLISM

Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits

(2009) L. A. Abel et al.   NEUROLOGY