Simona Bianconi

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

Daniel S. Ory, Elizabeth A. Ottinger, Nicole Y. Farhat et al. · The Lancet · 2017 · 316 citations · Full text

Neurodegenerative Diseases, Neurobiology Of Disease, Clinical Therapeutic +9

Linear clinical progression, independent of age of onset, in Niemann–Pick disease, type C

Nicole M. Yanjanin, Jorge I. Vélez, Andrea Gropman et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2009 · 197 citations

Oxidative stress in Niemann–Pick disease, type C

Rao Fu, Nicole M. Yanjanin, Simona Bianconi et al. · Molecular Genetics and Metabolism · 2010 · 118 citations · Full text

Disease Mechanism, Biochemistry, Reactive Nitrogen Specie +7

Pathogenesis, epidemiology, diagnosis and clinical aspects of Smith–Lemli–Opitz syndrome

Simona Bianconi, Joanna Cross, Christopher A. Wassif et al. · Expert Opinion on Orphan Drugs · 2015 · 82 citations · Full text

γ-Secretase-dependent amyloid-β is increased in Niemann-Pick type C

Niklas Mattsson, Henrik Zetterberg, Simona Bianconi et al. · Neurology · 2010 · 77 citations · Full text