Muntoni F - Search Results

1

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F. Bonne G, et al. Among authors: muntoni f. Ann Neurol. 2000 Aug;48(2):170-80. Ann Neurol. 2000. PMID: 10939567

2

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.

Bonne G, Di Barletta MR, Varnous S, Bécane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K. Bonne G, et al. Among authors: muntoni f. Nat Genet. 1999 Mar;21(3):285-8. doi: 10.1038/6799. Nat Genet. 1999. PMID: 10080180 Clinical Trial.

3

Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2).

Mercuri E, Manzur AY, Jungbluth H, Bonne G, Muchir A, Sewry C, Schwartz K, Muntoni F. Mercuri E, et al. Among authors: muntoni f. Neurology. 2000 Apr 25;54(8):1704-5. doi: 10.1212/wnl.54.8.1704. Neurology. 2000. PMID: 10762524 No abstract available.

4

Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry C, Mayer M, Fardeau M, Tomé FM, Guicheney P. Moghadaszadeh B, et al. Among authors: muntoni f. Am J Hum Genet. 1998 Jun;62(6):1439-45. doi: 10.1086/301882. Am J Hum Genet. 1998. PMID: 9585610 Free PMC article.

5

60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy 5-7 June 1998, Naarden, The Netherlands.

Wehnert M, Muntoni F. Wehnert M, et al. Among authors: muntoni f. Neuromuscul Disord. 1999 Mar;9(2):115-21. doi: 10.1016/s0960-8966(98)00095-9. Neuromuscul Disord. 1999. PMID: 10220867 No abstract available.

6

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.

Moghadaszadeh B, Topaloglu H, Merlini L, Muntoni F, Estournet B, Sewry C, Naom I, Barois A, Fardeau M, Tomé FM, Guicheney P. Moghadaszadeh B, et al. Among authors: muntoni f. Neuromuscul Disord. 1999 Oct;9(6-7):376-82. doi: 10.1016/s0960-8966(99)00051-6. Neuromuscul Disord. 1999. PMID: 10545040

7

What's new in neuromuscular disorders? Nuclear envelope and Emery-Dreifuss muscular dystrophy.

Mercuri E, Muntoni F. Mercuri E, et al. Among authors: muntoni f. Eur J Paediatr Neurol. 2001;5(1):3-5. doi: 10.1053/ejpn.2001.0397. Eur J Paediatr Neurol. 2001. PMID: 11277362 No abstract available.

8

Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.

Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F. Sewry CA, et al. Among authors: muntoni f. Neuropathol Appl Neurobiol. 2001 Aug;27(4):281-90. doi: 10.1046/j.0305-1846.2001.00323.x. Neuropathol Appl Neurobiol. 2001. PMID: 11532159

9

Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy.

Mercuri E, Counsell S, Allsop J, Jungbluth H, Kinali M, Bonne G, Schwartz K, Bydder G, Dubowitz V, Muntoni F. Mercuri E, et al. Among authors: muntoni f. Neuropediatrics. 2002 Feb;33(1):10-4. doi: 10.1055/s-2002-23593. Neuropediatrics. 2002. PMID: 11930270

10

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.

Lucioli S, Giusti B, Mercuri E, Vanegas OC, Lucarini L, Pietroni V, Urtizberea A, Ben Yaou R, de Visser M, van der Kooi AJ, Bönnemann C, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu ML, Pepe G. Lucioli S, et al. Among authors: muntoni f. Neurology. 2005 Jun 14;64(11):1931-7. doi: 10.1212/01.WNL.0000163990.00057.66. Neurology. 2005. PMID: 15955946

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