Associated Papers
Diagnostic Spectrum in an "Atypical" Atypical Parkinsonism Syndrome Cohort: A Single Center Experience.
Katragadda P et al.
Journal of Movement Disorders, 2025
Imaging of tau deposits in adults with Niemann-Pick type C disease: a case-control study.
Villemagne VL et al.
European Journal of Nuclear Medicine and Molecular Imaging, 2019
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.
Mazzacuva F et al.
Febs Letters, 2016
27139891 (PubMed )
Supplement: FEB2-590-1651-s001.pdf
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.
Al-Jasmi FA et al.
Jimd Reports, 2013
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
Héron B et al.
Orphanet Journal of Rare Diseases, 2012
Elucidating the mutational impact in causing Niemann-Pick disease type C: an in silico approach.
Kannan P et al.
Journal of Biomolecular Structure & Dynamics, 0
36264126 (PubMed )
Supplement: supplement_1.docx
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