Miglustat Improves Purkinje Cell Survival and Alters Microglial Phenotype in Feline Niemann-Pick Disease Type C

The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat

(2011) Simona Fecarotta et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Endosomal/Lysosomal Processing of Gangliosides Affects Neuronal Cholesterol Sequestration in Niemann-Pick Disease Type C

(2011) Sharon Zhou et al.   AMERICAN JOURNAL OF PATHOLOGY

Anatomically Defined Neuron-Based Rescue of Neurodegenerative Niemann-Pick Type C Disorder

(2011) M. E. Lopez et al.   JOURNAL OF NEUROSCIENCE

Iminosugar-Based Inhibitors of Glucosylceramide Synthase Increase Brain Glycosphingolipids and Survival in a Mouse Model of Sandhoff Disease

(2011) Karen M. Ashe et al.   PLoS One

Treatment of cataplexy in Niemann–Pick disease type C with the use of miglustat

(2010) Marcin Zarowski et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

2-Hydroxypropyl-β-Cyclodextrin Raises Hearing Threshold in Normal Cats and in Cats With Niemann-Pick Type C Disease

(2010) Sarah Ward et al.   PEDIATRIC RESEARCH

Gangliosides in cell recognition and membrane protein regulation

(2009) Pablo HH Lopez et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C

(2009) Marc C. Patterson et al.   JOURNAL OF CHILD NEUROLOGY

Neuropathology of the Mcoln1−/− Knockout Mouse Model of Mucolipidosis Type IV

(2009) Matthew C. Micsenyi et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

(2009) Cristin D. Davidson et al.   PLoS One

Substrate reduction therapy

(2008) Frances M Platt et al.   ACTA PAEDIATRICA

Sphingosine kinase 1/S1P receptor signaling axis controls glial proliferation in mice with Sandhoff disease

(2008) Yun-Ping Wu et al.   HUMAN MOLECULAR GENETICS

Treatment of a child diagnosed with Niemann–Pick disease type C with miglustat: A case report in Brazil

(2008) M. L. F. Santos 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

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

(2008) Emyr Lloyd-Evans et al.   NATURE MEDICINE

Clinical, Electrophysiological, and Serum Biochemical Measures of Progressive Neurological and Hepatic Dysfunction in Feline Niemann-Pick Type C Disease

(2008) Charles H Vite et al.   PEDIATRIC RESEARCH