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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. Among authors: schwartz k. Muscle Nerve. 2004 Oct;30(4):444-50. doi: 10.1002/mus.20122. Muscle Nerve. 2004. PMID: 15372542
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: schwartz k. Ann Neurol. 2000 Aug;48(2):170-80. Ann Neurol. 2000. PMID: 10939567
82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands.
Bonne G, Capeau J, De Visser M, Duboc D, Merlini L, Morris GE, Muntoni F, Recan D, Sewry C, Squarzoni S, Stewart C, Talim B, van der Kooi A, Worman H, Schwartz K. Bonne G, et al. Among authors: schwartz k. Neuromuscul Disord. 2002 Feb;12(2):187-94. doi: 10.1016/s0960-8966(01)00243-7. Neuromuscul Disord. 2002. PMID: 11738362 No abstract available.
Emery-Dreifuss muscular dystrophy.
Helbling-Leclerc A, Bonne G, Schwartz K. Helbling-Leclerc A, et al. Among authors: schwartz k. Eur J Hum Genet. 2002 Mar;10(3):157-61. doi: 10.1038/sj.ejhg.5200744. Eur J Hum Genet. 2002. PMID: 11973618 Review.
Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies.
Arimura T, Helbling-Leclerc A, Massart C, Varnous S, Niel F, Lacène E, Fromes Y, Toussaint M, Mura AM, Keller DI, Amthor H, Isnard R, Malissen M, Schwartz K, Bonne G. Arimura T, et al. Among authors: schwartz k. Hum Mol Genet. 2005 Jan 1;14(1):155-69. doi: 10.1093/hmg/ddi017. Epub 2004 Nov 17. Hum Mol Genet. 2005. PMID: 15548545
1,380 results