Mercuri E - Search Results

1

Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.

Pera MC, Coratti G, Forcina N, Mazzone ES, Scoto M, Montes J, Pasternak A, Mayhew A, Messina S, Sframeli M, Main M, Lofra RM, Duong T, Ramsey D, Dunaway S, Salazar R, Fanelli L, Civitello M, de Sanctis R, Antonaci L, Lapenta L, Lucibello S, Pane M, Day J, Darras BT, De Vivo DC, Muntoni F, Finkel R, Mercuri E. Pera MC, et al. Among authors: mercuri e. BMC Neurol. 2017 Feb 23;17(1):39. doi: 10.1186/s12883-017-0790-9. BMC Neurol. 2017. PMID: 28231823 Free PMC article.

2

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

3

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.

4

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

5

An unusual case of hyperekplexia.

Jungbluth H, Rees MI, Manzur AY, Mercuri E, Sewry CA, Gobbi P, Muntoni F. Jungbluth H, et al. Among authors: mercuri e. Eur J Paediatr Neurol. 2000;4(2):77-80. doi: 10.1053/ejpn.1999.0267. Eur J Paediatr Neurol. 2000. PMID: 10817489

6

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.

7

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

8

Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy.

Mercuri E, Counsell S, Allsop J, Jungbluth H, Kinali M, Bonne G, Schwartz K, Bydder G, Dubowitz V, Muntoni F. Mercuri E, et al. Neuropediatrics. 2002 Feb;33(1):10-4. doi: 10.1055/s-2002-23593. Neuropediatrics. 2002. PMID: 11930270

9

Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study.

Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, Feng L, Sewry CA, Muntoni F. Mercuri E, et al. Neurology. 2002 May 14;58(9):1354-9. doi: 10.1212/wnl.58.9.1354. Neurology. 2002. PMID: 12011280

10

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

Jungbluth H, Müller CR, Halliger-Keller B, Brockington M, Brown SC, Feng L, Chattopadhyay A, Mercuri E, Manzur AY, Ferreiro A, Laing NG, Davis MR, Roper HP, Dubowitz V, Bydder G, Sewry CA, Muntoni F. Jungbluth H, et al. Among authors: mercuri e. Neurology. 2002 Jul 23;59(2):284-7. doi: 10.1212/wnl.59.2.284. Neurology. 2002. PMID: 12136074

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