Mercuri E - Search Results

1

Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy.

De Sanctis R, Pane M, Coratti G, Palermo C, Leone D, Pera MC, Abiusi E, Fiori S, Forcina N, Fanelli L, Lucibello S, Mazzone ES, Tiziano FD, Mercuri E. De Sanctis R, et al. Among authors: mercuri e. Neuromuscul Disord. 2018 Jan;28(1):24-28. doi: 10.1016/j.nmd.2017.09.015. Epub 2017 Oct 10. Neuromuscul Disord. 2018. PMID: 29174525

2

Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study.

Mercuri E, Messina S, Kinali M, Cini C, Longman C, Battini R, Cioni G, Muntoni F. Mercuri E, et al. Neuromuscul Disord. 2004 Feb;14(2):125-9. doi: 10.1016/j.nmd.2003.09.005. Neuromuscul Disord. 2004. PMID: 14733958

3

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.

4

Severe abnormalities of the pons in two infants with goldenhar syndrome.

Pane M, Baranello G, Battaglia D, Donvito V, Carnevale F, Stefanini MC, Guzzetta F, Mercuri E, Bertini E. Pane M, et al. Among authors: mercuri e. Neuropediatrics. 2004 Aug;35(4):234-8. doi: 10.1055/s-2004-820894. Neuropediatrics. 2004. PMID: 15328563

5

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients.

Brahe C, Vitali T, Tiziano FD, Angelozzi C, Pinto AM, Borgo F, Moscato U, Bertini E, Mercuri E, Neri G. Brahe C, et al. Among authors: mercuri e. Eur J Hum Genet. 2005 Feb;13(2):256-9. doi: 10.1038/sj.ejhg.5201320. Eur J Hum Genet. 2005. PMID: 15523494 Clinical Trial.

6

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.

Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, Allsop J, Nigro V, Sáenz A, Nascimbeni A, Fulizio L, Angelini C, Muntoni F. Mercuri E, et al. Neuromuscul Disord. 2005 Feb;15(2):164-71. doi: 10.1016/j.nmd.2004.10.008. Epub 2004 Nov 26. Neuromuscul Disord. 2005. PMID: 15694138

7

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy.

Mercuri E, Lampe A, Allsop J, Knight R, Pane M, Kinali M, Bonnemann C, Flanigan K, Lapini I, Bushby K, Pepe G, Muntoni F. Mercuri E, et al. Neuromuscul Disord. 2005 Apr;15(4):303-10. doi: 10.1016/j.nmd.2005.01.004. Neuromuscul Disord. 2005. PMID: 15792870

8

Prognostic value of EEG performed at term age in preterm infants.

Randò T, Ricci D, Luciano R, Frisone MF, Baranello G, Tonelli T, Pane M, Romagnoli C, Tortorolo G, Mercuri E, Guzzetta F. Randò T, et al. Among authors: mercuri e. Childs Nerv Syst. 2006 Mar;22(3):263-9. doi: 10.1007/s00381-005-1167-8. Epub 2005 Jun 1. Childs Nerv Syst. 2006. PMID: 15928967

9

Assessment of visual function in children with methylmalonic aciduria and homocystinuria.

Ricci D, Pane M, Deodato F, Vasco G, Randò T, Caviglia S, Dionisi-Vici C, Mercuri E. Ricci D, et al. Among authors: mercuri e. Neuropediatrics. 2005 Jun;36(3):181-5. doi: 10.1055/s-2005-865609. Neuropediatrics. 2005. PMID: 15944903

10

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands.

Bertini E, Burghes A, Bushby K, Estournet-Mathiaud B, Finkel RS, Hughes RA, Iannaccone ST, Melki J, Mercuri E, Muntoni F, Voit T, Reitter B, Swoboda KJ, Tiziano D, Tizzano E, Topaloglu H, Wirth B, Zerres K. Bertini E, et al. Among authors: mercuri e. Neuromuscul Disord. 2005 Nov;15(11):802-16. doi: 10.1016/j.nmd.2005.07.005. Epub 2005 Oct 3. Neuromuscul Disord. 2005. PMID: 16202598 No abstract available.

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