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694 results

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Page 1
Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients.
Rossi R, Falzarano MS, Osman H, Armaroli A, Scotton C, Mantuano P, Boccanegra B, Cappellari O, Schwartz E, Yuryev A, Mercuri E, Bertini E, D'Amico A, Mora M, Johansson C, Al-Khalili Szigyarto C, De Luca A, Ferlini A. Rossi R, et al. Among authors: mercuri e. Front Physiol. 2021 Jul 8;12:678974. doi: 10.3389/fphys.2021.678974. eCollection 2021. Front Physiol. 2021. PMID: 34305639 Free PMC article.
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.
Villanova M, Mercuri E, Bertini E, Sabatelli P, Morandi L, Mora M, Sewry C, Brockington M, Brown SC, Ferreiro A, Maraldi NM, Toda T, Guicheney P, Merlini L, Muntoni F. Villanova M, et al. Among authors: mercuri e. Neuromuscul Disord. 2000 Dec;10(8):541-7. doi: 10.1016/s0960-8966(00)00139-5. Neuromuscul Disord. 2000. PMID: 11053679
Pilot trial of phenylbutyrate in spinal muscular atrophy.
Mercuri E, Bertini E, Messina S, Pelliccioni M, D'Amico A, Colitto F, Mirabella M, Tiziano FD, Vitali T, Angelozzi C, Kinali M, Main M, Brahe C. Mercuri E, et al. Neuromuscul Disord. 2004 Feb;14(2):130-5. doi: 10.1016/j.nmd.2003.11.006. Neuromuscul Disord. 2004. PMID: 14733959 Clinical Trial.
POMT2 mutation in a patient with 'MEB-like' phenotype.
Mercuri E, D'Amico A, Tessa A, Berardinelli A, Pane M, Messina S, van Reeuwijk J, Bertini E, Muntoni F, Santorelli FM. Mercuri E, et al. Neuromuscul Disord. 2006 Jul;16(7):446-8. doi: 10.1016/j.nmd.2006.03.016. Epub 2006 May 15. Neuromuscul Disord. 2006. PMID: 16701995
Expanding the clinical spectrum of POMT1 phenotype.
D'Amico A, Tessa A, Bruno C, Petrini S, Biancheri R, Pane M, Pedemonte M, Ricci E, Falace A, Rossi A, Mercuri E, Santorelli FM, Bertini E. D'Amico A, et al. Among authors: mercuri e. Neurology. 2006 May 23;66(10):1564-7; discussion 1461. doi: 10.1212/01.wnl.0000216145.66476.36. Neurology. 2006. PMID: 16717220
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.
Pescatori M, Broccolini A, Minetti C, Bertini E, Bruno C, D'amico A, Bernardini C, Mirabella M, Silvestri G, Giglio V, Modoni A, Pedemonte M, Tasca G, Galluzzi G, Mercuri E, Tonali PA, Ricci E. Pescatori M, et al. Among authors: mercuri e. FASEB J. 2007 Apr;21(4):1210-26. doi: 10.1096/fj.06-7285com. Epub 2007 Jan 30. FASEB J. 2007. PMID: 17264171
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Santorelli FM, Bertini E, Mercuri E. Messina S, et al. Among authors: mercuri e. Neuromuscul Disord. 2008 Jul;18(7):565-71. doi: 10.1016/j.nmd.2008.04.004. Epub 2008 Jun 2. Neuromuscul Disord. 2008. PMID: 18513969
Daily salbutamol in young patients with SMA type II.
Pane M, Staccioli S, Messina S, D'Amico A, Pelliccioni M, Mazzone ES, Cuttini M, Alfieri P, Battini R, Main M, Muntoni F, Bertini E, Villanova M, Mercuri E. Pane M, et al. Among authors: mercuri e. Neuromuscul Disord. 2008 Jul;18(7):536-40. doi: 10.1016/j.nmd.2008.05.004. Epub 2008 Jun 24. Neuromuscul Disord. 2008. PMID: 18579379 Clinical Trial.
Transcriptional behavior of DMD gene duplications in DMD/BMD males.
Gualandi F, Neri M, Bovolenta M, Martoni E, Rimessi P, Fini S, Spitali P, Fabris M, Pane M, Angelini C, Mora M, Morandi L, Mongini T, Bertini E, Ricci E, Vattemi G, Mercuri E, Merlini L, Ferlini A. Gualandi F, et al. Among authors: mercuri e. Hum Mutat. 2009 Feb;30(2):E310-9. doi: 10.1002/humu.20881. Hum Mutat. 2009. PMID: 18853462
694 results