Mercuri E - Search Results

1

The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure.

Sansone VA, Pirola A, Lizio A, Greco LC, Coratti G, Casiraghi J, Pane M, Pera MC, Italiano C, Messina S, Pozzi S, Sframeli M, D'Amico A, Bertini E, Bruno C, Mauro L, Salmin F, Stancanelli C, Pedemonte M, Albamonte E, Zizzi C, Heatwole C, Mercuri E; ISMAC group. Sansone VA, et al. Among authors: mercuri e. Neuromuscul Disord. 2021 May;31(5):409-418. doi: 10.1016/j.nmd.2021.02.006. Epub 2021 Feb 9. Neuromuscul Disord. 2021. PMID: 33773884

2

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

3

Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype.

Mercuri E, Cini C, Pichiecchio A, Allsop J, Counsell S, Zolkipli Z, Messina S, Kinali M, Brown SC, Jimenez C, Brockington M, Yuva Y, Sewry CA, Muntoni F. Mercuri E, et al. Neuromuscul Disord. 2003 Sep;13(7-8):554-8. doi: 10.1016/s0960-8966(03)00091-9. Neuromuscul Disord. 2003. PMID: 12921792

4

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

5

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.

6

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

7

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.

8

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.

Jungbluth H, Davis MR, Müller C, Counsell S, Allsop J, Chattopadhyay A, Messina S, Mercuri E, Laing NG, Sewry CA, Bydder G, Muntoni F. Jungbluth H, et al. Among authors: mercuri e. Neuromuscul Disord. 2004 Dec;14(12):785-90. doi: 10.1016/j.nmd.2004.08.006. Neuromuscul Disord. 2004. PMID: 15564033

9

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

10

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

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