Mercuri E - Search Results

1

Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module.

Coratti G, Civitello M, Rohwer A, Albamonte E, Montes J, Glanzman AM, Pasternak A, De Sanctis R, Young SD, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, D'Amico A, Catteruccia M, Brolatti N, Pane M, Scoto M, Messina S, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Sansone VA, Salmin F, Day J, Baranello G, Pera MC, Muntoni F, Finkel RS, Mercuri E; International SMA Consortium (iSMAc). Coratti G, et al. Among authors: mercuri e. Neuromuscul Disord. 2024 Nov;44:104449. doi: 10.1016/j.nmd.2024.08.006. Epub 2024 Aug 28. Neuromuscul Disord. 2024. PMID: 39299818 Free article.

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

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

4

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

5

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

6

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

7

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

8

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.

9

Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy.

Mercuri E, Rutherford M, De Vile C, Counsell S, Sewry C, Brown S, Bydder G, Dubowitz V, Muntoni F. Mercuri E, et al. Neuromuscul Disord. 2001 Apr;11(3):297-9. doi: 10.1016/s0960-8966(00)00190-5. Neuromuscul Disord. 2001. PMID: 11297945

10

Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency.

Deodato F, Sabatelli M, Ricci E, Mercuri E, Muntoni F, Sewry C, Naom I, Tonali P, Guzzetta F. Deodato F, et al. Among authors: mercuri e. Neuromuscul Disord. 2002 May;12(4):392-8. doi: 10.1016/s0960-8966(01)00312-1. Neuromuscul Disord. 2002. PMID: 12062258

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