Head of the Unit of Neuromuscular and Neurodegenerative Disorders, Ospedale Pediatrico Bambino Gesu'
Verified email at opbg.net
Cited by
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Analysis of glutathione: implication in redox and detoxification
A Pastore, G Federici, E Bertini, F Piemonte
Clinica chimica acta 333 (1), 19-39, 2003
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
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
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
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
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
Mutations in ADAR1 cause Aicardi-Goutieres 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
PLA2G6, encoding a phospholipase A 2, 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
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
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
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, 2009
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
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
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
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
OC Vanegas, E Bertini, RZ Zhang, S Petrini, C Minosse, P Sabatelli, ...
Proceedings of the National Academy of Sciences 98 (13), 7516-7521, 2001
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy
C Andreassi, C Angelozzi, FD Tiziano, T Vitali, E De Vincenzi, ...
European journal of human genetics 12 (1), 59-65, 2004
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy
R Nabbout, E Gennaro, B Dalla Bernardina, O Dulac, F Madia, E Bertini, ...
Neurology 60 (12), 1961-1967, 2003
Spinal muscular atrophy
A D'Amico, E Mercuri, FD Tiziano, E Bertini
Orphanet journal of rare diseases 6 (1), 1-10, 2011
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
De novo LMNA mutations cause a new form of congenital muscular dystrophy
S Quijano‐Roy, B Mbieleu, CG B÷nnemann, PY Jeannet, J Colomer, ...
Annals of Neurology: Official Journal of the American Neurologicalá…, 2008
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