Associated Papers
Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series.
Saneifard H et al.
Molecular Genetics and Metabolism Reports, 2024
Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.
Abtahi R et al.
Hereditas, 2022
[Blood 7-ketocholesterol level, clinical features and gene mutation analysis of 18 children with Niemann-Pick disease type C].
Zhan X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2016
Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.
Reunert J et al.
Ebiomedicine, 2016
26981555 (PubMed )
Supplement: mmc1.pdf
Facial Dystonia with Facial Grimacing and Vertical Gaze Palsy with "Round the Houses" Sign in a 29-Year-Old Woman.
Crespi J et al.
Neuro-ophthalmology (aeolus Press), 2016
Aberrant phosphorylation of alpha-synuclein in human Niemann-Pick type C1 disease.
Saito Y et al.
Journal of Neuropathology and Experimental Neurology, 2004
Niemann-Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity.
Saito Y et al.
Annals of Neurology, 2002
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