Muntoni F - Search Results

1

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martínez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F. Scoto M, et al. Among authors: muntoni f. Neurology. 2015 Feb 17;84(7):668-79. doi: 10.1212/WNL.0000000000001269. Epub 2015 Jan 21. Neurology. 2015. PMID: 25609763 Free PMC article.

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

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.

6

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

7

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

8

Fracture prevalence in Duchenne muscular dystrophy.

McDonald DG, Kinali M, Gallagher AC, Mercuri E, Muntoni F, Roper H, Jardine P, Jones DH, Pike MG. McDonald DG, et al. Among authors: muntoni f. Dev Med Child Neurol. 2002 Oct;44(10):695-8. doi: 10.1017/s0012162201002778. Dev Med Child Neurol. 2002. PMID: 12418795 Free article.

9

Muscular dystrophy campaign sponsored workshop: recommendation for respiratory care of children with spinal muscular atrophy type II and III. 13th February 2002, London, UK.

Manzur AY, Muntoni F, Simonds A. Manzur AY, et al. Among authors: muntoni f. Neuromuscul Disord. 2003 Feb;13(2):184-9. doi: 10.1016/s0960-8966(02)00212-2. Neuromuscul Disord. 2003. PMID: 12565919 No abstract available.

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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