Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects

[1]  I. Ferrer,et al.  Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies , 2004, Journal of the Neurological Sciences.

[2]  I. Ferrer,et al.  A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin , 2004, Journal of Neurology.

[3]  M. Dalakas,et al.  Desmin myopathy. , 2004, Brain : a journal of neurology.

[4]  J. Le Guennec,et al.  Cytoskeletal modulation of electrical and mechanical activity in cardiac myocytes. , 2004, Progress in biophysics and molecular biology.

[5]  I. Ferrer,et al.  Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy , 2004, Human Genetics.

[6]  J. Nagle,et al.  Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c‐terminal α‐helical segment , 2003, Muscle & nerve.

[7]  K. Zerres,et al.  On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. , 2003, Human molecular genetics.

[8]  J. Nagle,et al.  Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations , 2003, Neuromuscular Disorders.

[9]  J. Towbin,et al.  Familial restrictive cardiomyopathy caused by a missense mutation in the desmin gene: possible role of apoptosis in disease pathogenesis , 2002 .

[10]  Á. Almeida,et al.  Oxidative Stress in Preterm Rat Brain Is Due to Mitochondrial Dysfunction , 2002, Pediatric Research.

[11]  C. Iwai,et al.  Frequency and clinical characteristics of dilated cardiomyopathy caused by desmin gene mutation in a Japanese population. , 2001, European heart journal.

[12]  H. Katus,et al.  Cardiomyopathies: from genetics to the prospect of treatment , 2001, The Lancet.

[13]  S. Langlois,et al.  Structural and functional analysis of a new desmin variant causing desmin‐related myopathy , 2001, Human mutation.

[14]  M. Dalakas,et al.  Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations , 2001, Annals of neurology.

[15]  L. Tavazzi,et al.  Epidemiology of desmin and cardiac actin gene mutations in a european population of dilated cardiomyopathy. , 2000, European heart journal.

[16]  V. Ferrans,et al.  Desmin splice variants causing cardiac and skeletal myopathy , 2000, Journal of medical genetics.

[17]  S. Watanabe,et al.  A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates , 2000, Neurology.

[18]  D. Parry,et al.  Coiled-coil trigger motifs in the 1B and 2B rod domain segments are required for the stability of keratin intermediate filaments. , 2000, Molecular biology of the cell.

[19]  V. Ferrans,et al.  Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation , 2000, Clinical genetics.

[20]  M. Dalakas,et al.  Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. , 2000, The New England journal of medicine.

[21]  A. Lustig,et al.  The intermediate filament protein consensus motif of helix 2B: its atomic structure and contribution to assembly. , 1999, Journal of molecular biology.

[22]  E. Wijsman,et al.  A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. , 1999, Human molecular genetics.

[23]  P. Burch,et al.  Desmin mutation responsible for idiopathic dilated cardiomyopathy. , 1999, Circulation.

[24]  J. Mate,et al.  A dysfunctional desmin mutation in a patient with severe generalized myopathy. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[25]  J. Nagle,et al.  Missense mutations in desmin associated with familial cardiac and skeletal myopathy , 1998, Nature Genetics.

[26]  E. Arbustini,et al.  Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits. , 1998, Journal of the American College of Cardiology.

[27]  F. Pieper,et al.  Muscle-specific expression of a dominant negative desmin mutant in transgenic mice. , 1996, European journal of cell biology.

[28]  B Maisch,et al.  Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. , 1996, Circulation.