Mercuri E - Search Results

1

Gain and loss of abilities in type II SMA: A 12-month natural history study.

Coratti G, Lucibello S, Pera MC, Duong T, Muni Lofra R, Civitello M, D'Amico A, Goemans N, Darras BT, Bruno C, Sansone VA, Day J, Nascimento Osorio A, Muntoni F, Montes J, Sframeli M, Finkel R, Mercuri E; ISMAC group. Coratti G, et al. Among authors: mercuri e. Neuromuscul Disord. 2020 Sep;30(9):765-771. doi: 10.1016/j.nmd.2020.07.004. Epub 2020 Jul 13. Neuromuscul Disord. 2020. PMID: 32893082

2

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

3

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

4

Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status.

Mercuri E, Gruter-Andrew J, Philpot J, Sewry C, Counsell S, Henderson S, Jensen A, Naom I, Bydder G, Dubowitz V, Muntoni F. Mercuri E, et al. Neuromuscul Disord. 1999 Oct;9(6-7):383-7. doi: 10.1016/s0960-8966(99)00034-6. Neuromuscul Disord. 1999. PMID: 10545041

5

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.

6

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

7

Minicore myopathy in children: a clinical and histopathological study of 19 cases.

Jungbluth H, Sewry C, Brown SC, Manzur AY, Mercuri E, Bushby K, Rowe P, Johnson MA, Hughes I, Kelsey A, Dubowitz V, Muntoni F. Jungbluth H, et al. Among authors: mercuri e. Neuromuscul Disord. 2000 Jun;10(4-5):264-73. doi: 10.1016/s0960-8966(99)00125-x. Neuromuscul Disord. 2000. PMID: 10838253

8

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

9

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.

Jungbluth H, Sewry CA, Brown SC, Nowak KJ, Laing NG, Wallgren-Pettersson C, Pelin K, Manzur AY, Mercuri E, Dubowitz V, Muntoni F. Jungbluth H, et al. Among authors: mercuri e. Neuromuscul Disord. 2001 Jan;11(1):35-40. doi: 10.1016/s0960-8966(00)00167-x. Neuromuscul Disord. 2001. PMID: 11166164

10

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies.

Pogue R, Anderson LV, Pyle A, Sewry C, Pollitt C, Johnson MA, Davison K, Moss JA, Mercuri E, Muntoni F, Bushby KM. Pogue R, et al. Among authors: mercuri e. Neuromuscul Disord. 2001 Jan;11(1):80-7. doi: 10.1016/s0960-8966(00)00154-1. Neuromuscul Disord. 2001. PMID: 11166169

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