Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease

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

(2013) J. Schicks et al.   NEUROLOGY

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

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

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

The Autosomal Recessive Cerebellar Ataxias

(2012) Mathieu Anheim et al.   NEW ENGLAND JOURNAL OF MEDICINE

Neuroimaging Findings in a Brain With Niemann–Pick Type C Disease

(2011) Jei-Yie Huang et al.   JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION

In vivo quantification of brain injury in adult Niemann–Pick Disease Type C

(2011) Wafaa Zaaraoui et al.   MOLECULAR GENETICS AND METABOLISM

White and gray matter alterations in adults with Niemann-Pick disease type C: A cross-sectional study

(2010) M. Walterfang et al.   NEUROLOGY

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

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

Movement disorders and inborn errors of metabolism in adults: A diagnostic approach

(2008) F. Sedel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: Follow up using brain spectroscopy

(2008) Damien Galanaud et al.   MOLECULAR GENETICS AND METABOLISM