,
, Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy, Nature Genet, vol.21, pp.285-288
Unusual type of benign X-linked muscular dystrophy, J. Neurol. Neurosurg. Psychiat, vol.29, pp.338-342, 1966. ,
Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations, Eur. Heart J, vol.24, pp.2227-2236, 2003. ,
Lamin and the heart, Heart, vol.104, pp.468-479, 2018. ,
Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C, J. Biol. Chem, vol.268, pp.16321-16326, 1993. ,
, , 2007.
, Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy, J. Clin. Invest, vol.117, pp.1282-1293
Abnormal p38alpha mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation, Hum. Mol. Genet, vol.21, pp.4325-4333, 2012. ,
Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation, Hum. Mol. Genet, vol.27, pp.3060-3078, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-01962065
, , 2017.
, Decreased Wnt/b-catenin signaling contributes to the pathogenesis of dilated cardiomyopathy caused by mutations in the lamin A/C gene, Hum. Mol. Genet, vol.26, pp.333-343
,
, ERK1/2 directly acts on CTGF/CCN2 expresssion to mediate fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene, Hum. Mol. Genet, vol.25, pp.2220-2233
Rescue of biosynthesis of nicotinamide adenine dinucleotide (NAD+) protects the heart in cardiomyopathy caused by lamin A/C gene mutation, Hum. Mol. Genet, vol.27, pp.3870-3880, 2018. ,
Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A/C gene mutation, Sci. Transl. Med, vol.4, pp.144-102, 2012. ,
Mitogen-activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by mutation in lamin A/C gene, Circulation, vol.123, pp.53-61, 2011. ,
Limiting factors for maximum oxygen uptake and determinants of endurance performance, Med. Sci. Sports Exerc, vol.32, pp.70-84, 2000. ,
Running speed and maximal oxygen uptake in rats and mice: practical implications for exercise training, Eur. J. Cardiovasc. Prev, vol.14, pp.753-760, 2007. ,
Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies, Hum. Mol. Genet, vol.14, pp.155-169, 2005. ,
URL : https://hal.archives-ouvertes.fr/hal-00165763
Effects of respiratory exchange ratio on the prognostic value of peak oxygen consumption and ventilator efficiency in patients with systolic heart failure, JACC Heart Fail, vol.1, pp.427-432, 2013. ,
Contribution of peak respiratory exchange ratio to peak VO2 prognostic reliability in patients with chronic heart failure and severely rduced exercise capacity, Am. Heart J, vol.145, pp.1102-1107, 2003. ,
A novel protocol for assessing exercise performance and dystropathophysiology in the mdx mouse, Muscle & Nerve, vol.50, pp.541-548, 2014. ,
Metabolism in cardiomyopathy: every substrate matters, Cardiovasc. Res, vol.113, pp.411-421, 2017. ,
The 13 C hyperpolarized pyruvate generated by ParaHydrogen detects the response of the heart to altered metabolism in real time, Sci. Rep, vol.8, p.8366, 2018. ,
Smoothing and Differentiation of Data by Simplified Least Squares Procedures, Anal. Chem, vol.36, pp.1627-1639, 1964. ,