Muntoni F - Search Results

1

Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA.

Coratti G, Civitello M, Rohwer A, Salmin F, Glanzman AM, Montes J, Pasternak A, De Sanctis R, Young SD, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, Albamonte E, D'Amico A, Brolatti N, Pane M, Scoto M, Messina S, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Sansone VA, Day J, Baranello G, Pera MC, Muntoni F, Finkel R, Mercuri E. Coratti G, et al. Among authors: muntoni f. Neuromuscul Disord. 2024 Aug;41:42-50. doi: 10.1016/j.nmd.2024.05.003. Epub 2024 May 9. Neuromuscul Disord. 2024. PMID: 38936290

2

Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.

Pepe G, de Visser M, Bertini E, Bushby K, Vanegas OC, Chu ML, Lattanzi G, Merlini L, Muntoni F, Urtizberea A. Pepe G, et al. Among authors: muntoni f. Neuromuscul Disord. 2002 Mar;12(3):296-305. doi: 10.1016/s0960-8966(01)00275-9. Neuromuscul Disord. 2002. PMID: 11801404 No abstract available.

3

Congenital muscular dystrophies.

Mercuri E, Sewry C, Brown SC, Muntoni F. Mercuri E, et al. Among authors: muntoni f. Semin Pediatr Neurol. 2002 Jun;9(2):120-31. doi: 10.1053/spen.2002.33802. Semin Pediatr Neurol. 2002. PMID: 12138996 Review.

4

An effective, low-dosage, intermittent schedule of prednisolone in the long-term treatment of early cases of Duchenne dystrophy.

Kinali M, Mercuri E, Main M, Muntoni F, Dubowitz V. Kinali M, et al. Among authors: muntoni f. Neuromuscul Disord. 2002 Oct;12 Suppl 1:S169-74. doi: 10.1016/s0960-8966(02)00097-4. Neuromuscul Disord. 2002. PMID: 12206813 Clinical Trial.

5

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).

Mercuri E, Talim B, Moghadaszadeh B, Petit N, Brockington M, Counsell S, Guicheney P, Muntoni F, Merlini L. Mercuri E, et al. Among authors: muntoni f. Neuromuscul Disord. 2002 Oct;12(7-8):631-8. doi: 10.1016/s0960-8966(02)00023-8. Neuromuscul Disord. 2002. PMID: 12207930

6

Muscle MRI findings in a three-generation family affected by Bethlem myopathy.

Mercuri E, Cini C, Counsell S, Allsop J, Zolkipli Z, Jungbluth H, Sewry C, Brown SC, Pepe G, Muntoni F. Mercuri E, et al. Among authors: muntoni f. Eur J Paediatr Neurol. 2002;6(6):309-14. doi: 10.1016/s1090-3798(02)90618-5. Eur J Paediatr Neurol. 2002. PMID: 12401455

7

The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation.

Main M, Kairon H, Mercuri E, Muntoni F. Main M, et al. Among authors: muntoni f. Eur J Paediatr Neurol. 2003;7(4):155-9. doi: 10.1016/s1090-3798(03)00060-6. Eur J Paediatr Neurol. 2003. PMID: 12865054

8

Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.

Mercuri E, Poppe M, Quinlivan R, Messina S, Kinali M, Demay L, Bourke J, Richard P, Sewry C, Pike M, Bonne G, Muntoni F, Bushby K. Mercuri E, et al. Among authors: muntoni f. Arch Neurol. 2004 May;61(5):690-4. doi: 10.1001/archneur.61.5.690. Arch Neurol. 2004. PMID: 15148145

9

Magnetic resonance imaging of muscle in nemaline myopathy.

Jungbluth H, Sewry CA, Counsell S, Allsop J, Chattopadhyay A, Mercuri E, North K, Laing N, Bydder G, Pelin K, Wallgren-Pettersson C, Muntoni F. Jungbluth H, et al. Among authors: muntoni f. Neuromuscul Disord. 2004 Dec;14(12):779-84. doi: 10.1016/j.nmd.2004.08.005. Neuromuscul Disord. 2004. PMID: 15564032

10

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: muntoni f. Neuromuscul Disord. 2004 Dec;14(12):785-90. doi: 10.1016/j.nmd.2004.08.006. Neuromuscul Disord. 2004. PMID: 15564033

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