Muntoni F - Search Results

1

Syncoilin upregulation in muscle of patients with neuromuscular disease.

Brown SC, Torelli S, Ugo I, De Biasia F, Howman EV, Poon E, Britton J, Davies KE, Muntoni F. Brown SC, et al. Among authors: muntoni f. Muscle Nerve. 2005 Dec;32(6):715-25. doi: 10.1002/mus.20431. Muscle Nerve. 2005. PMID: 16124004

2

Muscle development genes: their relevance in neuromuscular disorders.

Muntoni F, Brown S, Sewry C, Patel K. Muntoni F, et al. Neuromuscul Disord. 2002 Jun;12(5):438-46. doi: 10.1016/s0960-8966(01)00326-1. Neuromuscul Disord. 2002. PMID: 12031617 Review.

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

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

5

Defective glycosylation in muscular dystrophy.

Muntoni F, Brockington M, Blake DJ, Torelli S, Brown SC. Muntoni F, et al. Lancet. 2002 Nov 2;360(9343):1419-21. doi: 10.1016/S0140-6736(02)11397-3. Lancet. 2002. PMID: 12424008 Review.

6

Relocalization of neuronal nitric oxide synthase (nNOS) as a marker for complete restoration of the dystrophin associated protein complex in skeletal muscle.

Wells KE, Torelli S, Lu Q, Brown SC, Partridge T, Muntoni F, Wells DJ. Wells KE, et al. Among authors: muntoni f. Neuromuscul Disord. 2003 Jan;13(1):21-31. doi: 10.1016/s0960-8966(02)00191-8. Neuromuscul Disord. 2003. PMID: 12467729

7

Functional requirements for fukutin-related protein in the Golgi apparatus.

Esapa CT, Benson MA, Schröder JE, Martin-Rendon E, Brockington M, Brown SC, Muntoni F, Kröger S, Blake DJ. Esapa CT, et al. Among authors: muntoni f. Hum Mol Genet. 2002 Dec 15;11(26):3319-31. doi: 10.1093/hmg/11.26.3319. Hum Mol Genet. 2002. PMID: 12471058

8

Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

Mercuri E, Brockington M, Straub V, Quijano-Roy S, Yuva Y, Herrmann R, Brown SC, Torelli S, Dubowitz V, Blake DJ, Romero NB, Estournet B, Sewry CA, Guicheney P, Voit T, Muntoni F. Mercuri E, et al. Among authors: muntoni f. Ann Neurol. 2003 Apr;53(4):537-42. doi: 10.1002/ana.10559. Ann Neurol. 2003. PMID: 12666124

9

Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome.

Jiménez-Mallebrera C, Torelli S, Brown SC, Feng L, Brockington M, Sewry CA, Beltrán-Valero De Bernabé D, Muntoni F. Jiménez-Mallebrera C, et al. Among authors: muntoni f. Eur J Paediatr Neurol. 2003;7(3):129-37. doi: 10.1016/s1090-3798(03)00042-4. Eur J Paediatr Neurol. 2003. PMID: 12788039

10

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.

Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F. Longman C, et al. Among authors: muntoni f. Hum Mol Genet. 2003 Nov 1;12(21):2853-61. doi: 10.1093/hmg/ddg307. Epub 2003 Sep 9. Hum Mol Genet. 2003. PMID: 12966029

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