ENRICO BERTINI

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Gessica VascoMD, PhD, Pediatric Neurologist - Department of Neuroscience and Neurorehabilitation, Bambino GesùDirección de correo verificada de opbg.net
TizianoDirección de correo verificada de rm.unicatt.it
Graziella UzielNeuropediatra, Istitituto C.Besta MilanoDirección de correo verificada de istituto-besta.it
Carlo MinettiUniversity of Genova and G.Gaslini Institute, GenovaDirección de correo verificada de unige.it
Giorgio TascaNewcastle University, Newcastle upon Tyne, UKDirección de correo verificada de ncl.ac.uk
Massimiliano ValerianiDevelopmental Neurology Unit, Ospedale Pediatrico Bambino Gesù, Rome, ItalyDirección de correo verificada de opbg.net
Joseph GleesonUniversity of California, San DiegoDirección de correo verificada de ucsd.edu
Haluk TopalogluDirección de correo verificada de hacettepe.edu.tr
Betti GiustiProfessore Associato di Patologia Clinica, Dip. Medicina Sperimentale e Clinica, Univ. di FirenzeDirección de correo verificada de unifi.it
Paolo BonaldoUniversity of PadovaDirección de correo verificada de bio.unipd.it
Zara FedericoInstitute G. Gaslini, University of GenoaDirección de correo verificada de gaslini.org
Anita K SimondsProfessor of Respiratory & Sleep Medicine, Royal Brompton & Harefield NHS Foundation Trust, UKDirección de correo verificada de ic.ac.uk
Markus SchuelkeProfessor of Neuropediatrics, Charité University Hospital, BerlinDirección de correo verificada de charite.de
Vittoria PetruzzellaProfessore di Biologia Molecolare, Università di BariDirección de correo verificada de uniba.it
antonio federicoprofessore ordinario università di sienaDirección de correo verificada de unisi.it
Susan TrevesBasel University Hospital/ University of FerraraDirección de correo verificada de unibas.ch
Thomas VoitProfessor University College LondonDirección de correo verificada de ucl.ac.uk
alessandro fillaUniversity Federico II NaplesDirección de correo verificada de unina.it
Stefano SquarzoniIGM CNRDirección de correo verificada de area.bo.cnr.it
Raphael SchiffmannTexas NeurologyDirección de correo verificada de texasneurology.com

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ENRICO BERTINI

Head of the Research Unit of Neuromuscular and Neurodegenerative Disorders, Ospedale Pediatrico

Dirección de correo verificada de opbg.net

Neuromuscular and Neurogenetic Disorders in childhood Leukodystrophies Congenital Ataxia Mitochondrial Disorders in Childhood


Título Ordenar por citas Ordenar por año Ordenar por título	Citado por Citado por	Año
Analysis of glutathione: implication in redox and detoxification A Pastore, G Federici, E Bertini, F Piemonte Clinica chimica acta 333 (1), 19-39, 2003	1593	2003
Consensus statement for standard of care in spinal muscular atrophy CH Wang, RS Finkel, ES Bertini, M Schroth, A Simonds, B Wong, ... Journal of child neurology 22 (8), 1027-1049, 2007	950	2007
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care E Mercuri, RS Finkel, F Muntoni, B Wirth, J Montes, M Main, ES Mazzone, ... Neuromuscular disorders 28 (2), 103-115, 2018	898	2018
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature GI Rice, PR Kasher, GMA Forte, NM Mannion, SM Greenwood, ... Nature genetics 44 (11), 1243-1248, 2012	845	2012
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response GI Rice, J Bond, A Asipu, RL Brunette, IW Manfield, IM Carr, JC Fuller, ... Nature genetics 41 (7), 829-832, 2009	784	2009
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region M Zeviani, S Servidei, C Gellera, E Bertini, S DiMauro, S DiDonato Nature 339 (6222), 309-311, 1989	767	1989
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection YJ Crow, A Leitch, BE Hayward, A Garner, R Parmar, E Griffith, M Ali, ... Nature genetics 38 (8), 910-916, 2006	763	2006
Spinal muscular atrophy A D'Amico, E Mercuri, FD Tiziano, E Bertini Orphanet journal of rare diseases 6, 1-10, 2011	646	2011
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency V Tiranti, K Hoertnagel, R Carrozzo, C Galimberti, M Munaro, ... The American Journal of Human Genetics 63 (6), 1609-1621, 1998	641	1998
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics RS Finkel, E Mercuri, OH Meyer, AK Simonds, MK Schroth, RJ Graham, ... Neuromuscular Disorders 28 (3), 197-207, 2018	614	2018
PLA2G6, encoding a phospholipase A₂, is mutated in neurodegenerative disorders with high brain iron NV Morgan, SK Westaway, JEV Morton, A Gregory, P Gissen, S Sonek, ... Nature genetics 38 (7), 752-754, 2006	576	2006
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study D De Vivo, E Bertini, K Swoboda, WL Hwu, T Crawford, R Finkel, ... Neuromuscular Disorders 29 (11), 2019	520	2019
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome EM Valente, JL Silhavy, F Brancati, G Barrano, SR Krishnaswami, ... Nature genetics 38 (6), 623-625, 2006	507	2006
Clinical and molecular phenotype of Aicardi-Goutieres syndrome G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ... The American Journal of Human Genetics 81 (4), 713-725, 2007	466	2007
Childhood spinal muscular atrophy: controversies and challenges E Mercuri, E Bertini, ST Iannaccone The Lancet Neurology 11 (5), 443-452, 2012	464	2012
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial CM McDonald, C Campbell, RE Torricelli, RS Finkel, KM Flanigan, ... The Lancet 390 (10101), 1489-1498, 2017	448	2017
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies SL Bielas, JL Silhavy, F Brancati, MV Kisseleva, L Al-Gazali, L Sztriha, ... Nature genetics 41 (9), 1032-1036, 2009	420	2009
Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1 K Grohmann, M Schuelke, A Diers, K Hoffmann, B Lucke, C Adams, ... Nature genetics 29 (1), 75-77, 2001	401	2001
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum G Stevanin, FM Santorelli, H Azzedine, P Coutinho, J Chomilier, ... Nature genetics 39 (3), 366-372, 2007	380	2007
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement F Diomedi-Camassei, S Di Giandomenico, FM Santorelli, G Caridi, ... Journal of the American Society of Nephrology 18 (10), 2773-2780, 2007	376	2007

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