, High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation, Pacing and Clinical Electrophysiology, vol.23, issue.11, pp.1661-1666, 2000.
DOI : 10.1046/j.1460-9592.2000.01661.x
, Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?, Neurology, vol.68, issue.22, pp.1883-1894, 2007.
DOI : 10.1212/01.wnl.0000263138.57257.6a
, Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy, Nature Genetics, vol.157, issue.4, pp.323-327, 1994.
DOI : 10.1038/362297a0
, Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy, Nature Genetics, vol.21, issue.3, pp.285-288, 1999.
DOI : 10.1038/6799
, Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene, Annals of Neurology, vol.24, issue.2, pp.170-180, 2000.
DOI : 10.1002/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J
, Clinical Relevance of Atrial Fibrillation/Flutter, Stroke, Pacemaker Implant, and Heart Failure in Emery-Dreifuss Muscular Dystrophy: A Long-Term Longitudinal Study, Stroke, vol.34, issue.4, pp.901-908, 2003.
DOI : 10.1161/01.STR.0000064322.47667.49
, Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement, Circulation, vol.101, issue.5, pp.473-476, 2000.
DOI : 10.1161/01.CIR.101.5.473
, Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse, The American Journal of Human Genetics, vol.70, issue.3, pp.726-736, 2002.
DOI : 10.1086/339274
, Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy, The American Journal of Human Genetics, vol.66, issue.4, pp.1407-1412, 2000.
DOI : 10.1086/302869
, Unusual type of benign x-linked muscular dystrophy., Journal of Neurology, Neurosurgery & Psychiatry, vol.29, issue.4, pp.338-342, 1966.
DOI : 10.1136/jnnp.29.4.338
, Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease, New England Journal of Medicine, vol.341, issue.23, pp.1715-1724, 1999.
DOI : 10.1056/NEJM199912023412302
, Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant forms of EDMD, Journal of the Neurological Sciences, vol.210, issue.1-2, pp.47-51, 2003.
DOI : 10.1016/S0022-510X(03)00012-1
, Modifier locus of the skeletal muscle involvement in Emery???Dreifuss muscular dystrophy, Human Genetics, vol.16, issue.Suppl 1, pp.149-159, 2011.
DOI : 10.1007/s00439-010-0909-1
, Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy, The American Journal of Human Genetics, vol.85, issue.3, pp.338-353, 2009.
DOI : 10.1016/j.ajhg.2009.07.015
, Emerin and the Nuclear Lamina in Muscle and Cardiac Disease, Circulation Research, vol.103, issue.1, pp.16-23, 2008.
DOI : 10.1161/CIRCRESAHA.108.172197
, Emery-Dreifuss muscular dystrophy. in Handbook of Clinical Neurology, pp.145-160, 1992.
, Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the laminA, 2011.
, Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression, Human Molecular Genetics, vol.7, issue.5, pp.855-864, 1998.
DOI : 10.1093/hmg/7.5.855
, Selective Muscle Involvement on Magnetic Resonance Imaging in Autosomal Dominant Emery-Dreifuss Muscular Dystrophy, Neuropediatrics, vol.33, issue.1, pp.10-14, 2002.
DOI : 10.1055/s-2002-23593
, Primary Prevention of Sudden Death in Patients with Lamin A/C Gene Mutations, New England Journal of Medicine, vol.354, issue.2, pp.209-210, 2006.
DOI : 10.1056/NEJMc052632
, Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B), Human Molecular Genetics, vol.9, issue.9, pp.1453-1459, 2000.
DOI : 10.1093/hmg/9.9.1453
, Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins, Brain, vol.129, issue.5, pp.1260-1268, 2006.
DOI : 10.1093/brain/awl062
, Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy, Human Molecular Genetics, vol.13, issue.20, pp.2493-2503, 2004.
DOI : 10.1093/hmg/ddh265
, Molecular bases of progeroid syndromes, Human Molecular Genetics, vol.15, issue.Review Issue 2, pp.151-161, 2006.
DOI : 10.1093/hmg/ddl214
, Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C, The American Journal of Human Genetics, vol.71, issue.2, pp.426-431, 2002.
DOI : 10.1086/341908
, mutations cause a new form of congenital muscular dystrophy, Annals of Neurology, vol.30, issue.2, pp.177-186, 2008.
DOI : 10.1002/ana.21417
, Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C, Am J Med Genet A, vol.146, pp.1530-1542, 2008.
, Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?, Journal of Molecular Medicine, vol.40, issue.1, pp.79-83, 2005.
DOI : 10.1007/s00109-004-0589-1
, ???Laminopathies???: A wide spectrum of human diseases, Experimental Cell Research, vol.313, issue.10, pp.2121-2133, 2007.
DOI : 10.1016/j.yexcr.2007.03.028
, Laminopathies and the long strange trip from basic cell biology to therapy, Journal of Clinical Investigation, vol.119, issue.7, pp.1825-1836, 2009.
DOI : 10.1172/JCI37679
, Diseases of striated muscle Autosomal dominant Emery?Dreifuss muscular dystrophy #181350 Autosomal recessive Emery?Dreifuss muscular dystrophy #604929 Autosomal dominant cardiomyopathy dilated 1A #115200 Autosomal dominant limb girdle muscular dystrophy type 1B #159001 Autosomal dominant heart-hand syndrome, slovenian type #610140 Autosomal dominant LMNA related Congenital muscular dystrophy Peripheral neuropathy Autosomal recessive Charcot-Marie