Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: Demand for strategies in the management of presymptomatic lamin A/C mutant carriers
暂无分享,去创建一个
R. Hetzer | R. Dietz | H. Lehmkuhl | H. Sigusch | J. Genschel | H. Schmidt | K. Osterziel | H. Nägele | A. Perrot | C. Geier | Veronica Leon Perez | Dirk Reinhard
[1] P. Flemming,et al. LMNA Mutations in Cardiac Transplant Recipients , 2005, Cardiology.
[2] L. Melton,et al. Epidemiology of Idiopathic Dilated and Hypertrophic Cardiomyopathy , 2005 .
[3] S. Benedetti,et al. Laminopathies: from the heart of the cell to the clinics , 2004, Current opinion in neurology.
[4] D. Fatkin,et al. Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice. , 2004, The Journal of clinical investigation.
[5] Richard T. Lee,et al. Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. , 2004, The Journal of clinical investigation.
[6] H. Worman,et al. How do mutations in lamins A and C cause disease? , 2004, The Journal of clinical investigation.
[7] H. Crijns,et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? , 2004, Journal of Molecular Medicine.
[8] L. Tavazzi,et al. Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects , 2003, Virchows Archiv.
[9] M. Komajda,et al. Functional consequences of an LMNA mutation associated with a new cardiac and non‐cardiac phenotype , 2003, Human mutation.
[10] L. Mestroni,et al. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. , 2003, Journal of the American College of Cardiology.
[11] R. Hershberger,et al. A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation. , 2002, American heart journal.
[12] C. Hutchison. Lamins: building blocks or regulators of gene expression? , 2002, Nature Reviews Molecular Cell Biology.
[13] Eloisa Arbustini,et al. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. , 2002, Journal of the American College of Cardiology.
[14] R. Hershberger,et al. Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. , 2001, Journal of cardiac failure.
[15] J. Seidman,et al. The Genetic Basis for Cardiomyopathy from Mutation Identification to Mechanistic Paradigms , 2001, Cell.
[16] C. Hutchison,et al. Lamins in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes? , 2001, Journal of cell science.
[17] B. Eymard,et al. High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation , 2000, Pacing and clinical electrophysiology : PACE.
[18] M. Manns,et al. Three novel mutations, c314C>A, C778insC, and c1285+2T>A, in exon 2 of the Wilson disease gene , 2000, Human mutation.
[19] L. Mestroni,et al. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. , 2000, Circulation.
[20] R. Hetzer,et al. A new frameshift mutation at codon 466 (1397delA) within the LMNA gene , 2000, Human mutation.
[21] J. Seidman,et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. , 1999, The New England journal of medicine.
[22] L. Mestroni,et al. Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy. , 1999, European heart journal.
[23] H. Katus,et al. Frequency and phenotypes of familial dilated cardiomyopathy. , 1998, Journal of the American College of Cardiology.
[24] D. Levy,et al. Distribution and categorization of echocardiographic measurements in relation to reference limits: the Framingham Heart Study: formulation of a height- and sex-specific classification and its prospective validation. , 1997, Circulation.
[25] A. di Lenarda,et al. Epidemiology of dilated cardiomyopathy. A prospective post-mortem study of 5252 necropsies. The Heart Muscle Disease Study Group. , 1997, European heart journal.
[26] W. McKenna,et al. Familial dilated cardiomyopathy in the United Kingdom. , 1995, British heart journal.
[27] S. Coughlin,et al. Idiopathic dilated cardiomyopathy. , 1994, The New England journal of medicine.
[28] L. Mestroni,et al. Molecular genetics of dilated cardiomyopathy. , 1994, Herz.
[29] A. Tajik,et al. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. , 1992, The New England journal of medicine.
[30] P. Poole‐Wilson. Idiopathic dilated cardiomyopathy. , 1990, BMJ.
[31] L. Melton,et al. Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984. , 1989, Circulation.
[32] J. Ware,et al. Echocardiographic Measurements in Normal Subjects from Infancy to Old Age , 1980, Circulation.
[33] A. DeMaria,et al. Recommendations Regarding Quantitation in M-Mode Echocardiography: Results of a Survey of Echocardiographic Measurements , 1978, Circulation.
[34] H Sandler,et al. The use of single plane angiocardiograms for the calculation of left ventricular volume in man. , 1968, American heart journal.
[35] A. Whitfield. Familial cardiomyopathy. , 1961, The Quarterly journal of medicine.