Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B) A Muchir, G Bonne, AJ van der Kooi, M van Meegen, F Baas, PA Bolhuis, ... Human molecular genetics 9 (9), 1453-1459, 2000 | 762 | 2000 |
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C G Novelli, A Muchir, F Sangiuolo, A Helbling-Leclerc, MR D’Apice, ... The American Journal of Human Genetics 71 (2), 426-431, 2002 | 645 | 2002 |
Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy A Muchir, P Pavlidis, V Decostre, AJ Herron, T Arimura, G Bonne, ... The Journal of clinical investigation 117 (5), 1282-1293, 2007 | 326 | 2007 |
Laminopathies and the long strange trip from basic cell biology to therapy HJ Worman, LG Fong, A Muchir, SG Young The Journal of clinical investigation 119 (7), 1825-1836, 2009 | 306 | 2009 |
High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation HM BÉCANE, G Bonne, S Varnous, A Muchir, V Ortega, EH Hammouda, ... Pacing and Clinical Electrophysiology 23 (11), 1661-1666, 2000 | 289 | 2000 |
Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A/C gene mutation JC Choi, A Muchir, W Wu, S Iwata, S Homma, JP Morrow, HJ Worman Science translational medicine 4 (144), 144ra102-144ra102, 2012 | 216 | 2012 |
Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene A Muchir, BG Van Engelen, M Lammens, JM Mislow, E McNally, ... Experimental cell research 291 (2), 352-362, 2003 | 212 | 2003 |
Mitogen-activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by mutation in lamin A/C gene W Wu, A Muchir, J Shan, G Bonne, HJ Worman Circulation 123 (1), 53-61, 2011 | 205 | 2011 |
Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins A Muchir, J Shan, G Bonne, SE Lehnart, HJ Worman Human molecular genetics 18 (2), 241-247, 2009 | 195 | 2009 |
Development and validation of a new risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies K Wahbi, R Ben Yaou, E Gandjbakhch, F Anselme, T Gossios, ... Circulation 140 (4), 293-302, 2019 | 186 | 2019 |
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations A Muchir, J Medioni, M Laluc, C Massart, T Arimura, AJVD Kooi, ... Muscle & nerve 30 (4), 444-450, 2004 | 183 | 2004 |
The 13C hyperpolarized pyruvate generated by ParaHydrogen detects the response of the heart to altered metabolism in real time E Cavallari, C Carrera, M Sorge, G Bonne, A Muchir, S Aime, F Reineri Scientific reports 8 (1), 8366, 2018 | 152 | 2018 |
Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery–Dreifuss muscular dystrophy A Muchir, P Pavlidis, G Bonne, YK Hayashi, HJ Worman Human molecular genetics 16 (15), 1884-1895, 2007 | 149 | 2007 |
Lamin and the heart G Captur, E Arbustini, G Bonne, P Syrris, K Mills, K Wahbi, SA Mohiddin, ... Heart 104 (6), 468-479, 2018 | 146 | 2018 |
Abnormal p38α mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation A Muchir, W Wu, JC Choi, S Iwata, J Morrow, S Homma, HJ Worman Human molecular genetics 21 (19), 4325-4333, 2012 | 144 | 2012 |
LMNA cardiomyopathy: cell biology and genetics meet clinical medicine JT Lu, A Muchir, PL Nagy, HJ Worman Disease models & mechanisms 4 (5), 562-568, 2011 | 117 | 2011 |
Treatment with selumetinib preserves cardiac function and improves survival in cardiomyopathy caused by mutation in the lamin A/C gene A Muchir, SA Reilly, W Wu, S Iwata, S Homma, G Bonne, HJ Worman Cardiovascular research 93 (2), 311-319, 2012 | 106 | 2012 |
ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene M Chatzifrangkeskou, C Le Dour, W Wu, JP Morrow, LC Joseph, ... Human molecular genetics 25 (11), 2220-2233, 2016 | 100 | 2016 |
Reduced expression of A-type lamins and emerin activates extracellular signal-regulated kinase in cultured cells A Muchir, W Wu, HJ Worman Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1792 (1), 75-81, 2009 | 83 | 2009 |
Decreased WNT/β-catenin signalling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin a/C gene C Le Dour, C Macquart, F Sera, S Homma, G Bonne, JP Morrow, ... Human molecular genetics 26 (2), 333-343, 2017 | 81 | 2017 |