Muchir A - Search Results

1

Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

Ben Yaou R, Toutain A, Arimura T, Demay L, Massart C, Peccate C, Muchir A, Llense S, Deburgrave N, Leturcq F, Litim KE, Rahmoun-Chiali N, Richard P, Babuty D, Récan-Budiartha D, Bonne G. Ben Yaou R, et al. Among authors: muchir a. Neurology. 2007 May 29;68(22):1883-94. doi: 10.1212/01.wnl.0000263138.57257.6a. Neurology. 2007. PMID: 17536044

2

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: muchir a. Neurology. 2000 Apr 25;54(8):1704-5. doi: 10.1212/wnl.54.8.1704. Neurology. 2000. PMID: 10762524 No abstract available.

3

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).

Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K. Muchir A, et al. Hum Mol Genet. 2000 May 22;9(9):1453-9. doi: 10.1093/hmg/9.9.1453. Hum Mol Genet. 2000. PMID: 10814726

4

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: muchir a. Ann Neurol. 2000 Aug;48(2):170-80. Ann Neurol. 2000. PMID: 10939567

5

High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation.

Bécane HM, Bonne G, Varnous S, Muchir A, Ortega V, Hammouda EH, Urtizberea JA, Lavergne T, Fardeau M, Eymard B, Weber S, Schwartz K, Duboc D. Bécane HM, et al. Among authors: muchir a. Pacing Clin Electrophysiol. 2000 Nov;23(11 Pt 1):1661-6. doi: 10.1046/j.1460-9592.2000.01661.x. Pacing Clin Electrophysiol. 2000. PMID: 11138304

6

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G. Novelli G, et al. Among authors: muchir a. Am J Hum Genet. 2002 Aug;71(2):426-31. doi: 10.1086/341908. Epub 2002 Jun 19. Am J Hum Genet. 2002. PMID: 12075506 Free PMC article.

7

Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene.

Muchir A, van Engelen BG, Lammens M, Mislow JM, McNally E, Schwartz K, Bonne G. Muchir A, et al. Exp Cell Res. 2003 Dec 10;291(2):352-62. doi: 10.1016/j.yexcr.2003.07.002. Exp Cell Res. 2003. PMID: 14644157

8

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.

Muchir A, Medioni J, Laluc M, Massart C, Arimura T, van der Kooi AJ, Desguerre I, Mayer M, Ferrer X, Briault S, Hirano M, Worman HJ, Mallet A, Wehnert M, Schwartz K, Bonne G. Muchir A, et al. Muscle Nerve. 2004 Oct;30(4):444-50. doi: 10.1002/mus.20122. Muscle Nerve. 2004. PMID: 15372542

9

The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene.

van Engelen BG, Muchir A, Hutchison CJ, van der Kooi AJ, Bonne G, Lammens M. van Engelen BG, et al. Among authors: muchir a. Neurology. 2005 Jan 25;64(2):374-6. doi: 10.1212/01.WNL.0000149763.15180.00. Neurology. 2005. PMID: 15668447

10

Genetics of laminopathies.

Ben Yaou R, Muchir A, Arimura T, Massart C, Demay L, Richard P, Bonne G. Ben Yaou R, et al. Among authors: muchir a. Novartis Found Symp. 2005;264:81-90; discussion 90-97, 227-30. Novartis Found Symp. 2005. PMID: 15773749 Review.

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