Mercuri E - Search Results

1

Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry.

Muntoni F, Desguerre I, Guglieri M, Osorio AN, Kirschner J, Tulinius M, Buccella F, Elfring G, Werner C, Schilling T, Trifillis P, Zhang O, Delage A, Santos CL, Mercuri E. Muntoni F, et al. Among authors: mercuri e. J Comp Eff Res. 2019 Oct;8(14):1187-1200. doi: 10.2217/cer-2019-0086. Epub 2019 Aug 15. J Comp Eff Res. 2019. PMID: 31414621 Free article.

2

The protein defect in congenital muscular dystrophy.

Sewry CA, Naom I, D'Alessandro M, Ferlini A, Philpot J, Mercuri E, Dubowitz V, Muntoni F. Sewry CA, et al. Among authors: mercuri e. Biochem Soc Trans. 1996 May;24(2):281S. doi: 10.1042/bst024281s. Biochem Soc Trans. 1996. PMID: 8736939 No abstract available.

3

Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy.

Mercuri E, Pennock J, Goodwin F, Sewry C, Cowan F, Dubowitz L, Dubowitz V, Muntoni F. Mercuri E, et al. Neuromuscul Disord. 1996 Dec;6(6):425-9. doi: 10.1016/s0960-8966(96)00383-5. Neuromuscul Disord. 1996. PMID: 9027850

4

Visual function in children with merosin-deficient and merosin-positive congenital muscular dystrophy.

Mercuri E, Anker S, Philpot J, Sewry C, Dubowitz V, Muntoni F. Mercuri E, et al. Pediatr Neurol. 1998 May;18(5):399-401. doi: 10.1016/s0887-8994(97)00222-1. Pediatr Neurol. 1998. PMID: 9650678

5

Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction?

Gnecchi-Ruscone T, Taylor J, Mercuri E, Paternostro G, Pogue R, Bushby K, Sewry C, Muntoni F, Camici PG. Gnecchi-Ruscone T, et al. Among authors: mercuri e. Muscle Nerve. 1999 Nov;22(11):1549-56. doi: 10.1002/(sici)1097-4598(199911)22:11<1549::aid-mus10>3.0.co;2-a. Muscle Nerve. 1999. PMID: 10514233

6

Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2).

Mercuri E, Manzur AY, Jungbluth H, Bonne G, Muchir A, Sewry C, Schwartz K, Muntoni F. Mercuri E, et al. Neurology. 2000 Apr 25;54(8):1704-5. doi: 10.1212/wnl.54.8.1704. Neurology. 2000. PMID: 10762524 No abstract available.

7

Diaphragmatic spinal muscular atrophy with bulbar weakness.

Mercuri E, Goodwin F, Sewry C, Dubowitz V, Muntoni F. Mercuri E, et al. Eur J Paediatr Neurol. 2000;4(2):69-72. doi: 10.1053/ejpn.1999.0265. Eur J Paediatr Neurol. 2000. PMID: 10817487

8

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F. Bonne G, et al. Among authors: mercuri e. Ann Neurol. 2000 Aug;48(2):170-80. Ann Neurol. 2000. PMID: 10939567

9

Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?

Mercuri E, Sewry CA, Brown SC, Brockington M, Jungbluth H, DeVile C, Counsell S, Manzur A, Muntoni F. Mercuri E, et al. Neuropediatrics. 2000 Aug;31(4):186-9. doi: 10.1055/s-2000-7460. Neuropediatrics. 2000. PMID: 11071142

10

What's new in neuromuscular disorders? Nuclear envelope and Emery-Dreifuss muscular dystrophy.

Mercuri E, Muntoni F. Mercuri E, et al. Eur J Paediatr Neurol. 2001;5(1):3-5. doi: 10.1053/ejpn.2001.0397. Eur J Paediatr Neurol. 2001. PMID: 11277362 No abstract available.

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