Concepedia

Author

Simona Bianconi

Eunice Kennedy Shriver National Institute of Child Health and Human DevelopmentORCID

Also Known As

S Bianconi, S. Bianconi, Simona Bianconi, Simona E Bianconi, Simona E. Bianconi

50

Publications

1.6K

Citations

17

H-Index

61

Concepts

All Affiliations

Eunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Institutes of HealthNational Institute of Mental HealthNational Human Genome Research InstituteChildren's National
SB

About

Simona Bianconi is an author at Eunice Kennedy Shriver National Institute of Child Health and Human Development specializing in medicine, neurology, and neurodegenerative diseases.

Top Concepts

#ConceptH-IndexPublicationsCitations

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Medicine

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Arts

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11

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Education

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Health Sciences

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Social Sciences

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Simona Bianconi

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23

Publications

1.4K

Citations

16

H-Index

YearCitations

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,

The Lancet

2017

316

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

Nicole M. Yanjanin, Jorge I. Vélez, Andrea Gropman,

American Journal of Medical Genetics Part B Neuropsychiatric Genetics

2009

197

Oxidative stress in Niemann–Pick disease, type C

Rao Fu, Nicole M. Yanjanin, Simona Bianconi,

Molecular Genetics and Metabolism

2010

118

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

Simona Bianconi, Joanna Cross, Christopher A. Wassif,

Expert Opinion on Orphan Drugs

2015

82

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

Niklas Mattsson, Henrik Zetterberg, Simona Bianconi,

Neurology

2010

77

Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study

Sondra W. Levin, Eva H. Baker, Wadih M. Zein,

The Lancet Neurology

2014

76

Ranitidine and late-onset sepsis in the neonatal intensive care unit

Simona Bianconi, Madhu Gudavalli, Vesna G. Sutija,

Journal of Perinatal Medicine

2007

69

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update

Audrey Thurm, Elaine Tierney, Cristan Farmer,

Journal of Neurodevelopmental Disorders

2016

68

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders

Cristan Farmer, Aaron J. Kaat, Audrey Thurm,

American Journal on Intellectual and Developmental Disabilities

2020

60

Adrenal function in Smith–Lemli–Opitz syndrome

Simona Bianconi, Sandra K. Conley, Meg Keil,

American Journal of Medical Genetics Part A

2011

57

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