Association Française Niemann Pick

Maladie Niemann-Pick C - Journée d'info avec le soutien de Groupama RAA

Delivery is key: lessons learnt from developing splice‐switching antisense therapies

Cells, Free Full-Text

Impaired tyrosine phosphorylation in asmase-/- T lymphocytes after TCR

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

Wnt5a Promotes Lysosomal Cholesterol Egress and Protects Against Atherosclerosis

Justin Hopkin - Board Member - Uplifting Athletes

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

Social and medical needs of rare metabolic patients: results from a MetabERN survey, Orphanet Journal of Rare Diseases

Association Française Niemann Pick

Association Française Niemann Pick

Neuropsychological assessment in Niemann-Pick disease type C: a systematic review

Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria

Cholesterol modulates the recruitment of Kv1.5 channels from Rab11-associated recycling endosome in native atrial myocytes

Intracerebral Gene Therapy Using AAVrh.10-hARSA Recombinant Vector to Treat Patients with Early-Onset Forms of Metachromatic Leukodystrophy: Preclinical Feasibility and Safety Assessments in Nonhuman Primates