Muntoni F - Search Results

1

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.

Spitali P, Zaharieva I, Bohringer S, Hiller M, Chaouch A, Roos A, Scotton C, Claustres M, Bello L, McDonald CM, Hoffman EP; CINRG Investigators; Koeks Z, Eka Suchiman H, Cirak S, Scoto M, Reza M, 't Hoen PAC, Niks EH, Tuffery-Giraud S, Lochmüller H, Ferlini A, Muntoni F, Aartsma-Rus A. Spitali P, et al. Among authors: muntoni f. Eur J Hum Genet. 2020 Jun;28(6):815-825. doi: 10.1038/s41431-019-0563-6. Epub 2020 Jan 2. Eur J Hum Genet. 2020. PMID: 31896777 Free PMC article.

2

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

3

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.

4

Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype.

Nevo Y, Muntoni F, Sewry C, Legum C, Kutai M, Harel S, Dubowitz V. Nevo Y, et al. Among authors: muntoni f. Isr Med Assoc J. 2003 Feb;5(2):94-7. Isr Med Assoc J. 2003. PMID: 12674656 Free article.

5

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

6

Dystrophin and mutations: one gene, several proteins, multiple phenotypes.

Muntoni F, Torelli S, Ferlini A. Muntoni F, et al. Lancet Neurol. 2003 Dec;2(12):731-40. doi: 10.1016/s1474-4422(03)00585-4. Lancet Neurol. 2003. PMID: 14636778 Review.

7

In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy.

Cohen N, Rimessi P, Gualandi F, Ferlini A, Muntoni F. Cohen N, et al. Among authors: muntoni f. Biochem Biophys Res Commun. 2004 May 14;317(4):1215-20. doi: 10.1016/j.bbrc.2004.03.175. Biochem Biophys Res Commun. 2004. PMID: 15094399

8

Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation.

Rimessi P, Gualandi F, Duprez L, Spitali P, Neri M, Merlini L, Calzolari E, Muntoni F, Ferlini A. Rimessi P, et al. Among authors: muntoni f. Am J Med Genet A. 2005 Feb 1;132A(4):391-4. doi: 10.1002/ajmg.a.30513. Am J Med Genet A. 2005. PMID: 15641026

9

Prednisolone-induced changes in dystrophic skeletal muscle.

Fisher I, Abraham D, Bouri K, Hoffman EP, Muntoni F, Morgan J. Fisher I, et al. Among authors: muntoni f. FASEB J. 2005 May;19(7):834-6. doi: 10.1096/fj.04-2511fje. Epub 2005 Feb 25. FASEB J. 2005. PMID: 15734791

10

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H. van Reeuwijk J, et al. Among authors: muntoni f. Hum Mutat. 2006 May;27(5):453-9. doi: 10.1002/humu.20313. Hum Mutat. 2006. PMID: 16575835

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