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Author
Enrico Bertini
also known as BERTINI, Enrico, Basil Darras, Bertini E
Bambino Gesù Children's Hospital · Supélec · Università Cattolica del Sacro Cuore · University of Pisa
About this author
Works
1,248
Cited by
56,039
h-index
113
i10
713
ORCID ↗
Top papers
Analysis of glutathione: implication in redox and detoxification
Anna Pastore, Giorgio Federici, Enrico Bertini, et al.
·
2003
·
Clinica Chimica Acta
↗ 1,181
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
Eugenio Mercuri, Richard S. Finkel, Francesco Muntoni, et al.
·
2017
·
Neuromuscular Disorders
↗ 1,020
OA
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Gillian Rice, Paul R. Kasher, Gabriella Forte, et al.
·
2012
·
Nature Genetics
↗ 933
Consensus Statement for Standard of Care in Spinal Muscular Atrophy
Ching H. Wang, Richard S. Finkel, Enrico Bertini, et al.
·
2007
·
Journal of Child Neurology
↗ 933
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
Gillian Rice, Jacquelyn Bond, Aruna Asipu, et al.
·
2009
·
Nature Genetics
↗ 684
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
Yanick J. Crow, Andrea Leitch, Bruce E. Hayward, et al.
·
2006
·
Nature Genetics
↗ 673
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
Richard S. Finkel, Eugenio Mercuri, Oscar H. Meyer, et al.
·
2017
·
Neuromuscular Disorders
↗ 652
OA
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
Massimo Zeviani, Serenella Servidei, Cinzia Gellera, et al.
·
1989
·
Nature
↗ 637
Empirical Studies in Information Visualization: Seven Scenarios
H. Lam, Enrico Bertini, Petra Isenberg, et al.
·
2011
·
IEEE Transactions on Visualization and Computer Graphics
↗ 622
OA
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
Darryl C. De Vivo, Enrico Bertini, Kathryn J. Swoboda, et al.
·
2019
·
Neuromuscular Disorders
↗ 614
OA
Spinal muscular atrophy
Adele D’Amico, Eugenio Mercuri, Francesco Danilo Tiziano, et al.
·
2011
·
Orphanet Journal of Rare Diseases
↗ 571
OA
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
Neil V. Morgan, Shawn K. Westaway, Jenny E.V. Morton, et al.
·
2006
·
Nature Genetics
↗ 537
OA
Books
Poesie varie in dialetto milanese, 1915-1929
1929
·
Libreria editrice Ambrosiana