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Antoine Muchir
Antoine Muchir
Director of Research, INSERM
在 institut-myologie.org 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
7662000
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
6452002
Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
G Bonne, E Mercuri, A Muchir, A Urtizberea, HM Becane, D Recan, ...
Annals of Neurology: Official Journal of the American Neurological …, 2000
5732000
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
3282007
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
3072009
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
2902000
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
2182012
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
2122003
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
2062011
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
1972009
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
1942019
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
1832004
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
1552018
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
1512007
Lamin and the heart
G Captur, E Arbustini, G Bonne, P Syrris, K Mills, K Wahbi, SA Mohiddin, ...
Heart 104 (6), 468-479, 2018
1482018
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
1442012
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
1182011
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
1072012
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
1012016
The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene
BGM Van Engelen, A Muchir, CJ Hutchison, AJ Van Der Kooi, G Bonne, ...
Neurology 64 (2), 374-376, 2005
932005
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