Association Française Niemann Pick

Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder - Collardeau‐Frachon - 2016 - Journal of Inherited Metabolic Disease - Wiley Online Library

Justin Hopkin - Board Member - Uplifting Athletes

Advocacy – NNPDF

Frontiers Ambroxol Hydrochloride Improves Motor Functions and Extends Survival in a Mouse Model of Familial Amyotrophic Lateral Sclerosis

PDF] Renal failure and ascites in a patient with Niemann-Pick disease : case report and literature review

Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism. - Abstract - Europe PMC

Wnt5a Promotes Lysosomal Cholesterol Egress and Protects Against Atherosclerosis

Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A

Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization