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All publications related to disease Dilated cardiomyopathy 1A. To link directly to a specific first author surname click on the required letter below.
ABCDFGHJKMOPRSTVWZ A Antoniades L, Eftychiou C, Kyriakides T, Christodoulou K, Katritsis DG
Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy.
J Interv Card Electrophysiol 2007 19(1) 1-7 PubMed: 17605093 Arbustini E, Pilotto A, Repetto A, Grasso M, Negri A, Diegoli M, Campana C, Scelsi L, Baldini E, Gavazzi A, Tavazzi L
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.
J Am Coll Cardiol 2002 39(6) 981-990 PubMed: 11897440 Back to index B 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
High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation.
Pacing Clin Electrophysiol 2000 23(11 Pt 1) 1661-1666 PubMed: 11138304 Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olivè M, Bonne G, Mari F, Caldara R, Fazio R, Mammì I, Carrera P, Toniolo D, Comi G, Quattrini A, Ferrari M, Previtali SC
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
Neurology 2007 () - PubMed: 17377071 Brodsky GL, Muntoni F, Miocic S, Sinagra G, Sewry C, Mestroni L
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.
Circulation 2000 101(5) 473-476 PubMed: 10662742 Back to index C Charniot JC, Bonnefont-Rousselot D, Marchand C, Zerhouni K, Vignat N, Peynet J, Plotkine M, Legrand A, Artigou JY
Oxidative stress implication in a new phenotype of amyotrophic quadricipital syndrome with cardiac involvement due to lamin A/C mutation.
Free Radic Res 2007 41(4) 424-431 PubMed: 17454124 Charniot JC, Desnos M, Zerhouni K, Bonnefont-Rousselot D, Albertini JP, Salama JZ, Bassez G, Komajda M, Artigou JY
Severe dilated cardiomyopathy and quadriceps myopathy due to lamin A/C gene mutation: a phenotypic study.
Eur J Heart Fail 2006 8(3) 249-256 PubMed: 16314145 Charniot JC, Pascal C, Bouchier C, Sébillon P, Salama J, Duboscq-Bidot L, Peuchmaurd M, Desnos M, Artigou JY, Komajda M
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.
Hum Mutat 2003 21(5) 473-481 PubMed: 12673789 Back to index D De Backer J, Van Beeumen K, Loeys B, Duytschaever M
Expanding the phenotype of sudden cardiac death-An unusual presentation of a family with a Lamin A/C mutation.
Int J Cardiol 2008 () - PubMed: 18691775 Back to index F Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Müehle G, Johnson W, McDonough B
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
N Engl J Med 1999 341(23) 1715-1724 PubMed: 10580070 Fernández X, Dumont CA, Monserrat L, Hermida-Prieto M, Castro-Beiras A
Sudden death in a patient with lamin A/C gene mutation and near normal left ventricular systolic function.
Int J Cardiol 2007 () - PubMed: 17442430 Forissier JE, Bonne G, Bouchier C, Duboscq-Bidot L, Richard P, Briault S, Moraine C, Dubourg O, Schwartz K, Komajda M
[Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation]
Arch Mal Coeur Vaiss 2005 98(1) 67-70 PubMed: 15724423 Back to index G Genschel J, Baier P, Kuepferling S, Proepsting MJ, Buettner C, Ewert R, Hetzer R, Lochs H, Schmidt HH
A new frameshift mutation at codon 466 (1397delA) within the LMNA gene.
Hum Mutat 2000 16(3) 278-278 PubMed: 10980552 Genschel J, Bochow B, Kuepferling S, Ewert R, Hetzer R, Lochs H, Schmidt H
A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy.
Hum Mutat 2001 17(2) 154-154 PubMed: 11180602 Back to index H Hermida-Prieto M, Monserrat L, Castro-Beiras A, Laredo R, Soler R, Peteiro J, Rodríguez E, Bouzas B, Alvarez N, Muñiz J, Crespo-Leiro M
Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.
Am J Cardiol 2004 94(1) 50-54 PubMed: 15219508 Hershberger RE, Hanson EL, Jakobs PM, Keegan H, Coates K, Bousman S, Litt M
A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation.
Am Heart J 2002 144(6) 1081-1086 PubMed: 12486434 Back to index J Jakobs PM, Hanson EL, Crispell KA, Toy W, Keegan H, Schilling K, Icenogle TB, Litt M, Hershberger RE
Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.
J Card Fail 2001 7(3) 249-256 PubMed: 11561226 Back to index K Kärkkäinen S, Heliö T, Miettinen R, Tuomainen P, Peltola P, Rummukainen J, Ylitalo K, Kaartinen M, Kuusisto J, Toivonen L, Nieminen MS, Laakso M, Peuhkurinen K
A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy.
Eur Heart J 2004 25(10) 885-893 PubMed: 15140538 Kärkkäinen S, Reissell E, Heliö T, Kaartinen M, Tuomainen P, Toivonen L, Kuusisto J, Kupari M, Nieminen MS, Laakso M, Peuhkurinen K
Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy.
Heart 2006 92(4) 524-526 PubMed: 16537768 Kostareva A, Gudkova A, Sjoberg G, Kiselev I, Moiseeva O, Karelkina E, Goldfarb L, Schlyakhto E, Sejersen T
Desmin mutations in a St. Petersburg cohort of cardiomyopathies.
Acta Myol 2006 25(3) 109-115 PubMed: 17626518 Back to index M MacLeod HM, Culley MR, Huber JM, McNally EM
Lamin A/C truncation in dilated cardiomyopathy with conduction disease.
BMC Med Genet 2003 4() 4-4 PubMed: 12854972 McPherson E, Turner L, Zador I, Reynolds K, Macgregor D, Giampietro PF
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.
Am J Med Genet A 2009 () - PubMed: 19283854 Mercuri E, Brown SC, Nihoyannopoulos P, Poulton J, Kinali M, Richard P, Piercy RJ, Messina S, Sewry C, Burke MM, McKenna W, Bonne G, Muntoni F
Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene.
Muscle Nerve 2005 31(5) 602-609 PubMed: 15770669 Millat G, Chanavat V, Julia S, Crehalet H, Bouvagnet P, Rousson R
Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.
Clin Biochem 2009 42(9) 892-898 PubMed: 19318026 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
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
Muscle Nerve 2004 30(4) 444-450 PubMed: 15372542 Muntoni F, Bonne G, Goldfarb LG, Mercuri E, Piercy RJ, Burke M, Yaou RB, Richard P, Récan D, Shatunov A, Sewry CA, Brown SC
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
Brain 2006 129(Pt 5) 1260-1268 PubMed: 16585054 Møller DV, Pham TT, Gustafsson F, Hedley P, Ersbøll MK, Bundgaard H, Andersen CB, Torp-Pedersen C, Køber L, Christiansen M
The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.
Eur J Heart Fail 2009 11(11) 1031-1035 PubMed: 19875404 Back to index O Otomo J, Kure S, Shiba T, Karibe A, Shinozaki T, Yagi T, Naganuma H, Tezuka F, Miura M, Ito M, Watanabe J, Matsubara Y, Shirato K
Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene.
J Cardiovasc Electrophysiol 2005 16(2) 137-145 PubMed: 15720451 Back to index P Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Peterson A, Li D, Jakobs P, Litt M, Porter CB, Rahko PS, Hershberger RE
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
Am Heart J 2008 156(1) 161-169 PubMed: 18585512 Pasotti M, Klersy C, Pilotto A, Marziliano N, Rapezzi C, Serio A, Mannarino S, Gambarin F, Favalli V, Grasso M, Agozzino M, Campana C, Gavazzi A, Febo O, Marini M, Landolina M, Mortara A, Piccolo G, Viganò M, Tavazzi L, Arbustini E
Long-term outcome and risk stratification in dilated cardiolaminopathies.
J Am Coll Cardiol 2008 52(15) 1250-1260 PubMed: 18926329 Perrot A, Hussein S, Ruppert V, Schmidt HH, Wehnert MS, Duong NT, Posch MG, Panek A, Dietz R, Kindermann I, Böhm M, Michalewska-Wludarczyk A, Richter A, Maisch B, Pankuweit S, Ozcelik C
Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy.
Basic Res Cardiol 2009 104(1) 90-99 PubMed: 18795223 Perrot A, Sigusch HH, Nägele H, Genschel J, Lehmkuhl H, Hetzer R, Geier C, Leon Perez V, Reinhard D, Dietz R, Josef Osterziel K, Schmidt HH
Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: demand for strategies in the management of presymptomatic lamin A/C mutant carriers.
Eur J Heart Fail 2006 8(5) 484-493 PubMed: 16386954 Back to index R Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
Am J Hum Genet 2000 66(4) 1407-1412 PubMed: 10739764 Rudenskaya GE, Polyakov AV, Tverskaya SM, Zaklyazminskaya EV, Chukhrova AL, Groznova OE, Ginter EK
Laminopathies in Russian families.
Clin Genet 2008 74(2) 127-133 PubMed: 18564364 Back to index S Sébillon P, Bouchier C, Bidot LD, Bonne G, Ahamed K, Charron P, Drouin-Garraud V, Millaire A, Desrumeaux G, Benaïche A, Charniot JC, Schwartz K, Villard E, Komajda M
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.
J Med Genet 2003 40(8) 560-567 PubMed: 12920062 Song K, Dubé MP, Lim J, Hwang I, Lee I, Kim JJ
Lamin A/C mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans.
Exp Mol Med 2007 39(1) 114-120 PubMed: 17334235 Sylvius N, Bilinska ZT, Veinot JP, Fidzianska A, Bolongo PM, Poon S, McKeown P, Davies RA, Chan KL, Tang AS, Dyack S, Grzybowski J, Ruzyllo W, McBride H, Tesson F
In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.
J Med Genet 2005 42(8) 639-647 PubMed: 16061563 Back to index T Taylor MR, Fain PR, Sinagra G, Robinson ML, Robertson AD, Carniel E, Di Lenarda A, Bohlmeyer TJ, Ferguson DA, Brodsky GL, Boucek MM, Lascor J, Moss AC, Li WL, Stetler GL, Muntoni F, Bristow MR, Mestroni L
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
J Am Coll Cardiol 2003 41(5) 771-780 PubMed: 12628721 Taylor MR, Robinson ML, Mestroni L
Analysis of genetic variations of lamin A/C gene (LMNA) by denaturing high-performance liquid chromatography.
J Biomol Screen 2004 9(7) 625-628 PubMed: 15475483 Taylor MR, Slavov D, Ku L, Di Lenarda A, Sinagra G, Carniel E, Haubold K, Boucek MM, Ferguson D, Graw SL, Zhu X, Cavanaugh J, Sucharov CC, Long CS, Bristow MR, Lavori P, Mestroni L
Prevalence of desmin mutations in dilated cardiomyopathy.
Circulation 2007 115(10) 1244-1251 PubMed: 17325244 Back to index V van Tintelen JP, Hofstra RM, Katerberg H, Rossenbacker T, Wiesfeld AC, du Marchie Sarvaas GJ, Wilde AA, van Langen IM, Nannenberg EA, van der Kooi AJ, Kraak M, van Gelder IC, van Veldhuisen DJ, Vos Y, van den Berg MP
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.
Am Heart J 2007 154(6) 1130-1139 PubMed: 18035086 Verga L, Concardi M, Pilotto A, Bellini O, Pasotti M, Repetto A, Tavazzi L, Arbustini E
Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects.
Virchows Arch 2003 443(5) 664-671 PubMed: 12898247 Back to index W Wang H, Wang J, Zheng W, Wang X, Wang S, Song L, Zou Y, Yao Y, Hui R
Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect.
Biochem Biophys Res Commun 2006 344(1) 17-24 PubMed: 16630578 Back to index Z Zeller R, Ivandic BT, Ehlermann P, Mücke O, Zugck C, Remppis A, Giannitsis E, Katus HA, Weichenhan D
Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE.
J Mol Med 2006 84(8) 682-691 PubMed: 16715312 Back to index This page was last modified: April 17 2009 14:28:35. |
