Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat

A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis

(2019) Tadayuki Kumagai et al.   BRAIN & DEVELOPMENT

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report

(2018) Tomoya Kawazoe et al.   BMC Neurology

Serotonin neurons in the dorsal raphe mediate the anticataplectic action of orexin neurons by reducing amygdala activity

(2017) Emi Hasegawa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Decline of CSF orexin (hypocretin) levels in Prader-Willi syndrome

(2016) Mayu Omokawa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identifying Niemann–Pick type C in early-onset ataxia: two quick clinical screening tools

(2016) Matthis Synofzik et al.   JOURNAL OF NEUROLOGY

Cataplexy and Sleep Disorders in Niemann-Pick Type C Disease

(2014) Sona Nevsimalova et al.   Current Neurology and Neuroscience Reports

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