Concepedia

Chiara Fiorillo

CF

Statistics

Publications

89

Citations

3.9K

H-Index

37

Active since

2002

Affiliations

Istituto Giannina Gaslini(Current)

Fondazione Stella Maris

Istituti di Ricovero e Cura a Carattere Scientifico

University of Genoa

University of Messina

Chiara Fiorillo is an author at Istituto Giannina Gaslini specializing in life sciences, genetics, and medical genetics.

Publications per year

2002–2024

89

Publications

89

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

Costanza Lamperti, Greta Fabbri, Liliana Vercelli et al. · Muscle & Nerve · 2010 · 157 citations · Full text

Medicine, Neurology, Neuromuscular Disorders +16

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Payam Mohassel, Sandra Donkervoort, Museer A. Lone et al. · Nature Medicine · 2021 · 152 citations · Full text

Life Sciences, Neurology, Neuroscience +14

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

Vandana Shashi, Maria M. Magiera, Dennis Klein et al. · The EMBO Journal · 2018 · 127 citations · Full text

Life Sciences, Neurobiology, Neuroscience +12

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

Francesca Magri, Vincenzo Nigro, C. Angelini et al. · Muscle & Nerve · 2016 · 125 citations · Full text

Medicine, Genetics, Neurology +16

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