Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C

Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study

(2020) Marc C. Patterson et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Retinal axonal degeneration in Niemann–Pick type C disease

(2020) Joachim Havla et al.   JOURNAL OF NEUROLOGY

Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity

(2020) Tatiana Bremova-Ertl et al.   NEUROLOGY

Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry

(2020) Marc C. Patterson et al.   Orphanet Journal of Rare Diseases

How to spot ocular abnormalities in progressive supranuclear palsy? A practical review

(2019) Onanong Phokaewvarangkul et al.   Translational Neurodegeneration

A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades

(2019) Susanne Hopf et al.   Orphanet Journal of Rare Diseases

Oculomotor abnormalities in children with Niemann-Pick type C

(2018) James Blundell et al.   MOLECULAR GENETICS AND METABOLISM

Consensus clinical management guidelines for Niemann-Pick disease type C

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

Age dependent normative data of vertical and horizontal reflexive saccades

(2018) Susanne Hopf et al.   PLoS One

Vertical Supranuclear Gaze Palsy in a Toddler With Niemann-Pick Type C

(2017) Tatiana Bremova et al.   PEDIATRIC NEUROLOGY

Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C

(2016) Teodora Chamova et al.   EUROPEAN NEUROLOGY

Teaching Video NeuroImages: The “round the houses” sign as a clinical clue for Niemann-Pick disease type C

(2016) Hendriekje Eggink et al.   NEUROLOGY

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

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

Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C

(2012) Mark Walterfang et al.   MOLECULAR GENETICS AND METABOLISM

Saccadic Eye Movement Characteristics in Adult Niemann-Pick Type C Disease: Relationships with Disease Severity and Brain Structural Measures

(2012) Larry A. Abel 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

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Lack of Niemann–Pick type C1 induces age-related degeneration in the mouse retina

(2009) Thomas Claudepierre et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Eye movement and diffusion tensor imaging analysis of treatment effects in a Niemann–Pick Type C patient

(2009) Michael Scheel 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