ENRICO BERTINI

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Gessica VascoMD, PhD, Pediatric Neurologist - Department of Neuroscience and Neurorehabilitation, Bambino GesùVerifisert e-postadresse på opbg.net
TizianoVerifisert e-postadresse på rm.unicatt.it
Graziella UzielNeuropediatra, Istitituto C.Besta MilanoVerifisert e-postadresse på istituto-besta.it
Carlo MinettiUniversity of Genova and G.Gaslini Institute, GenovaVerifisert e-postadresse på unige.it
Giorgio TascaNewcastle University, Newcastle upon Tyne, UKVerifisert e-postadresse på ncl.ac.uk
Massimiliano ValerianiDevelopmental Neurology Unit, Ospedale Pediatrico Bambino Gesù, Rome, ItalyVerifisert e-postadresse på opbg.net
Joseph G. GleesonUniversity of California, San DiegoVerifisert e-postadresse på ucsd.edu
Haluk TopalogluVerifisert e-postadresse på hacettepe.edu.tr
Betti GiustiProfessore Associato di Patologia Clinica, Dip. Medicina Sperimentale e Clinica, Univ. di FirenzeVerifisert e-postadresse på unifi.it
Paolo BonaldoUniversity of PadovaVerifisert e-postadresse på bio.unipd.it
Zara FedericoInstitute G. Gaslini, University of GenoaVerifisert e-postadresse på gaslini.org
Anita K SimondsProfessor of Respiratory & Sleep Medicine, Royal Brompton & Harefield NHS Foundation Trust, UKVerifisert e-postadresse på ic.ac.uk
Markus SchuelkeProfessor of Neuropediatrics, Charité University Hospital, BerlinVerifisert e-postadresse på charite.de
Vittoria PetruzzellaProfessore di Biologia Molecolare, Università di BariVerifisert e-postadresse på uniba.it
antonio federicoprofessore ordinario università di sienaVerifisert e-postadresse på unisi.it
Susan TrevesBasel University Hospital/ University of FerraraVerifisert e-postadresse på unibas.ch
Stefano SquarzoniIGM CNRVerifisert e-postadresse på area.bo.cnr.it
alessandro fillaUniversity Federico II NaplesVerifisert e-postadresse på unina.it
Thomas VoitProfessor University College LondonVerifisert e-postadresse på ucl.ac.uk
Raphael SchiffmannTexas NeurologyVerifisert e-postadresse på texasneurology.com

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ENRICO BERTINI

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

Verifisert e-postadresse på opbg.net

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


Tittel Sorter etter sitater Sorter etter år Sorter etter tittel	Sitert av Sitert av	År
Analysis of glutathione: implication in redox and detoxification A Pastore, G Federici, E Bertini, F Piemonte Clinica chimica acta 333 (1), 19-39, 2003	1632	2003
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	1001	2018
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	985	2007
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	900	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	812	2009
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	790	2006
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	769	1989
Spinal muscular atrophy A D'Amico, E Mercuri, FD Tiziano, E Bertini Orphanet journal of rare diseases 6, 1-10, 2011	707	2011
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	673	2018
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	646	1998
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study C Darryl, E Bertini, KJ Swoboda, WL Hwu, TO Crawford, RS Finkel, ... Neuromuscular Disorders 29 (11), 842-856, 2019	590	2019
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	588	2006
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	514	2006
Childhood spinal muscular atrophy: controversies and challenges E Mercuri, E Bertini, ST Iannaccone The Lancet Neurology 11 (5), 443-452, 2012	508	2012
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	490	2007
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	471	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	429	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	412	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	390	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	377	2007

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