Niemann-Pick disease type C symptomatology: an expert-based clinical description

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

Subcortical Volumetric Reductions in Adult Niemann-Pick Disease Type C: A Cross-Sectional Study

(2012) M. Walterfang et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C

(2012) M. Walterfang et al.   EUROPEAN JOURNAL OF NEUROLOGY

Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C

(2012) Y. H. Chien et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a review of the literature

(2012) Catharina Whybra 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

Hearing Loss and Hair Cell Death in Mice Given the Cholesterol-Chelating Agent Hydroxypropyl-β-Cyclodextrin

(2012) Mark A. Crumling et al.   PLoS One

Size and Shape of the Corpus Callosum in Adult Niemann-Pick Type C Reflects State and Trait Illness Variables

(2011) M. Walterfang et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

(2011) Xuntian Jiang et al.   JOURNAL OF LIPID RESEARCH

Cholesterol Influences Voltage-Gated Calcium Channels and BK-Type Potassium Channels in Auditory Hair Cells

(2011) Erin K. Purcell et al.   PLoS One

Clinical Study of the Responsible Lesion for Dysarthria in the Cerebellum

(2010) Katsuhiko Ogawa et al.   INTERNAL MEDICINE

Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches

(2010) Anton I. Rosenbaum et al.   JOURNAL OF NEUROCHEMISTRY

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

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

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

Lipids on Trial: The Search for the Offending Metabolite in Niemann-Pick type C Disease

(2010) Emyr Lloyd-Evans et al.   TRAFFIC

Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis

(2009) M Griese et al.   CLINICAL GENETICS

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

Miglustat in adult and juvenile patients with Niemann–Pick disease type C: Long-term data from a clinical trial

(2009) James 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

Development of a brief ataxia rating scale (BARS) based on a modified form of the ICARS

(2009) Jeremy D. Schmahmann et al.   MOVEMENT DISORDERS

Frontal-Subcortical Dementias

(2009) Raphael M. Bonelli et al.   NEUROLOGIST

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

(2009) L. A. Abel et al.   NEUROLOGY

Lysosomal Storage Disorders in the Newborn

(2009) O. Staretz-Chacham et al.   PEDIATRICS

The basal ganglia and cerebellum interact in the expression of dystonic movement

(2008) V. K. Neychev et al.   BRAIN

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