Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report

(2018) Stefano Tozza et al.   NEUROLOGICAL SCIENCES

Consensus clinical management guidelines for Niemann-Pick disease type C

(2018) Tarekegn Geberhiwot et al.   Orphanet Journal of Rare Diseases

Systematic review of psychiatric signs in Niemann-Pick disease type C

(2018) Olivier Bonnot et al.   WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY

Cognitive impairment profile in adult patients with Niemann pick type C disease

(2017) Camille Heitz et al.   Orphanet Journal of Rare Diseases

Normalisation of brain spectroscopy findings in Niemann–Pick disease type C patients treated with miglustat

(2016) Frédéric Sedel et al.   JOURNAL OF NEUROLOGY

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review

(2016) Marie T. Vanier et al.   MOLECULAR GENETICS AND METABOLISM

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database

(2015) Jackie Imrie et al.   BMC Neurology

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

(2015) Christopher A. Wassif et al.   GENETICS IN MEDICINE

Longitudinal changes in cerebellar and subcortical volumes in adult-onset Niemann–Pick disease type C patients treated with miglustat

(2015) Elizabeth A. Bowman et al.   JOURNAL OF NEUROLOGY

Electrophysiological characterization of adult-onset Niemann–Pick type C disease

(2015) Rosa Iodice et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat

(2015) Larry A. Abel et al.   Orphanet Journal of Rare Diseases

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

(2015) Simona Fecarotta et al.   Orphanet Journal of Rare Diseases

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

(2015) Marc C Patterson et al.   Orphanet Journal of Rare Diseases

Hearing Loss is an Early Consequence of Npc1 Gene Deletion in the Mouse Model of Niemann–Pick Disease, Type C

(2014) Kelly A. King et al.   JARO-JOURNAL OF THE ASSOCIATION FOR RESEARCH IN OTOLARYNGOLOGY

Complex lipid trafficking in Niemann-Pick disease type C

(2014) Marie T. Vanier   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2014) Helena Jahnova et al.   Orphanet Journal of Rare Diseases

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study

(2014) Lucia Abela et al.   Orphanet Journal of Rare Diseases

Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review

(2014) Olivier Bonnot et al.   Orphanet Journal of Rare Diseases

Miglustat: A Review of Its Use in Niemann-Pick Disease Type C

(2013) Katherine A. Lyseng-Williamson   DRUGS

Auditory Phenotype of Niemann-Pick Disease, Type C1

(2013) Kelly A. King et al.   EAR AND HEARING

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

(2013) Mathieu Anheim et al.   JOURNAL OF NEUROLOGY

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

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

(2012) Veronika M. Stein et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

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

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

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

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

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

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