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ENRICO BERTINI
ENRICO BERTINI
Head of the Research Unit of Neuromuscular and Neurodegenerative Disorders, Ospedale Pediatrico
Email verificata su opbg.net
Titolo
Citata da
Citata da
Anno
Analysis of glutathione: implication in redox and detoxification
A Pastore, G Federici, E Bertini, F Piemonte
Clinica chimica acta 333 (1), 19-39, 2003
15972003
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
9542007
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
9112018
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
8512012
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
7912009
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
7701989
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
7662006
Spinal muscular atrophy
A D'Amico, E Mercuri, FD Tiziano, E Bertini
Orphanet journal of rare diseases 6, 1-10, 2011
6542011
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
6411998
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
6242018
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
5782006
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
5302019
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
5082006
Childhood spinal muscular atrophy: controversies and challenges
E Mercuri, E Bertini, ST Iannaccone
The Lancet Neurology 11 (5), 443-452, 2012
4712012
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
4702007
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
4512017
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
4202009
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
4022001
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
3822007
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
3772007
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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