Simona Bianconi

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Publications

Citations

1.5K

H-Index

Active since

2007

Affiliations

Eunice Kennedy Shriver National Institute of Child Health and Human Development(Current)

National Institutes of Health

National Institute of Mental Health

National Human Genome Research Institute

Children's National

Simona Bianconi is an author at Eunice Kennedy Shriver National Institute of Child Health and Human Development specializing in medicine, niemann-pick disease type c, and neurodegenerative disorders.

ORCID

Publications per year

2007–2024

Publications

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 · 325 citations · Full text

Medicine, Neurology, Pharmacology +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 · 200 citations

Life Sciences, Neurology, Neuroscience +17

Oxidative stress in Niemann–Pick disease, type C

Rao Fu, Nicole M. Yanjanin, Simona Bianconi et al. · Molecular Genetics and Metabolism · 2010 · 119 citations · Full text

Life Sciences, Pathobiology, Pathology +13

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 · 84 citations · Full text

Life Sciences, Genetics, Pediatrics +17

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

Niklas Mattsson, Henrik Zetterberg, Simona Bianconi et al. · Neurology · 2010 · 82 citations · Full text

Life Sciences, Neurology, Neuroscience +17

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