Muntoni F - Search Results

1

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping.

Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Janghra N, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F. Anthony K, et al. Among authors: muntoni f. JAMA Neurol. 2014 Jan;71(1):32-40. doi: 10.1001/jamaneurol.2013.4908. JAMA Neurol. 2014. PMID: 24217213 Free article. Clinical Trial.

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

The 3'-untranslated region of the dystrophin gene - conservation and consequences of loss.

Greener MJ, Sewry CA, Muntoni F, Roberts RG. Greener MJ, et al. Among authors: muntoni f. Eur J Hum Genet. 2002 Jul;10(7):413-20. doi: 10.1038/sj.ejhg.5200822. Eur J Hum Genet. 2002. PMID: 12107815

4

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.

5

Steroids in Duchenne muscular dystrophy: from clinical trials to genomic research.

Muntoni F, Fisher I, Morgan JE, Abraham D. Muntoni F, et al. Neuromuscul Disord. 2002 Oct;12 Suppl 1:S162-5. doi: 10.1016/s0960-8966(02)00101-3. Neuromuscul Disord. 2002. PMID: 12206811

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

Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene.

Toffolatti L, Cardazzo B, Nobile C, Danieli GA, Gualandi F, Muntoni F, Abbs S, Zanetti P, Angelini C, Ferlini A, Fanin M, Patarnello T. Toffolatti L, et al. Among authors: muntoni f. Genomics. 2002 Nov;80(5):523-30. Genomics. 2002. PMID: 12408970

8

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.

9

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

10

What's new in neuromuscular disorders? The congenital myopathies.

Jungbluth H, Sewry CA, Muntoni F. Jungbluth H, et al. Among authors: muntoni f. Eur J Paediatr Neurol. 2003;7(1):23-30. doi: 10.1016/s1090-3798(02)00136-8. Eur J Paediatr Neurol. 2003. PMID: 12615171 Review.

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