Normalization of real-time quantitative reverse transcription-PCR data: a model-based variance estimation approach to identify genes suited for normalization, applied to bladder and colon cancer data sets, Cancer Res, vol.64, pp.5245-5250, 2004. ,
Cytochrome oxidase in health and disease, Gene, vol.286, pp.53-63, 2002. ,
Physical exercise training for type 3 spinal muscular atrophy, Cochrane Database Syst. Rev, vol.3, p.12120, 2019. ,
Severe depletion of mitochondrial DNA in spinal muscular atrophy, Acta Neuropathol, vol.105, pp.245-251, 2003. ,
Spinal muscular atrophy, types I and II: what are the differences in body composition and resting energy expenditure?, Clin. Nutr, vol.36, pp.1674-1680, 2017. ,
Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery, Hum. Mol. Genet, vol.19, pp.3895-3905, 2010. ,
Exercise-induced activation of NMDA receptor promotes motor unit development and survival in a type 2 spinal muscular atrophy model mouse, J. Neurosci, vol.28, pp.953-962, 2008. ,
URL : https://hal.archives-ouvertes.fr/hal-00306035
Physical exercise reduces cardiac defects in type 2 spinal muscular atrophy-like mice, J. Physiol, vol.590, pp.5907-5925, 2012. ,
Effects of arm cycling exercise in spinal muscular atrophy type II patients: a pilot study, J. Child. Neurol, vol.33, pp.209-215, 2018. ,
Effect of exercise intensity, duration and mode on post-exercise oxygen consumption, Sports Med, vol.33, pp.1037-1060, 2003. ,
Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology, Hum. Mol. Genet, vol.23, pp.3432-3444, 2014. ,
Glucose metabolism and pancreatic defects in spinal muscular atrophy, Ann. Neurol, vol.72, pp.256-268, 2012. ,
, , 1995.
, Constitutive muscular abnormalities in culture in spinal muscular atrophy, Lancet, vol.345, pp.694-695
Hypoglycaemia in spinal muscular atrophy, Lancet, vol.346, pp.609-610, 1995. ,
Long-term exercise-specific neuroprotection in spinal muscular atrophy-like mice, J. Physiol, vol.594, pp.1931-1952, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01306145
Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy, Neurology, vol.86, pp.890-897, 2016. ,
Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy, J. Cell Biol, vol.152, pp.1107-1114, 2001. ,
The neurobiology of childhood spinal muscular atrophy, Neurobiol. Dis, vol.3, pp.97-110, 1996. ,
Abnormal fatty acid metabolism in childhood spinal muscular atrophy, Ann. Neurol, vol.45, pp.337-343, 1999. ,
Role of exercise intensity on GLUT4 content, aerobic fitness and fasting plasma glucose in type 2 diabetic mice, Cell Biochem. Funct, vol.33, pp.435-442, 2015. ,
Lipid disturbances associated with spiral muscular atrophy. Clinical, electromyographic, histochemical, and lipid studies, Arch. Neurol, vol.32, pp.195-203, 1975. ,
Responses to fasting and glucose loading in a cohort of well children with spinal muscular atrophy type II, J. Pediatr, vol.167, pp.1362-1363, 2015. ,
Motoneuron survival is promoted by specific exercise in a mouse model of amyotrophic lateral sclerosis, J. Physiol, vol.587, pp.3561-3572, 2009. ,
Exercise metabolism and the molecular regulation of skeletal muscle adaptation, Cell Metab, vol.17, pp.162-184, 2013. ,
Targeting mitochondrial oxidative metabolism as an approach to treat heart failure, Biochim. Biophys. Acta, vol.1833, pp.857-865, 2013. ,
Spinal muscular atrophy type I: is it ethical to standardize supportive care intervention in clinical trials?, J. Child Neurol, vol.32, pp.155-160, 2017. ,
Cardiac involvement in Werdnig-Hoffmann's spinal muscular atrophy, Cardiology, vol.92, pp.178-182, 1999. ,
Intrathecal injections in children with spinal muscular atrophy: nusinersen clinical trial experience, J. Child Neurol, vol.31, pp.899-906, 2016. ,
Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature, J. Neurol. Sci, vol.45, pp.337-348, 1980. ,
Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice, Hum. Mol. Genet, vol.19, pp.3906-3918, 2010. ,
A mouse model for spinal muscular atrophy, Nat. Genet, vol.24, pp.66-70, 2000. ,
ChREBP: a glucose-activated transcription factor involved in the development of metabolic syndrome, Endocr. J, vol.55, pp.617-624, 2008. ,
Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts, Clin. Chem, vol.53, pp.729-734, 2007. ,
Mitochondrial respiratory chain dysfunction in various neuromuscular diseases, J. Clin. Neurosci, vol.12, pp.426-428, 2005. ,
Utilization of skeletal muscle triacylglycerol during postexercise recovery in humans, Am. J. Physiol, vol.275, pp.332-337, 1998. ,
Quantitative proteomic characterization of cellular pathways associated with altered insulin sensitivity in skeletal muscle following high-fat diet feeding and exercise training, Sci. Rep, vol.8, p.10723, 2018. ,
Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III, PLoS One, vol.12, p.173144, 2017. ,
Identification and characterization of a spinal muscular atrophydetermining gene, Cell, vol.80, pp.155-165, 1995. ,
Resistance strength training exercise in children with spinal muscular atrophy, Muscle Nerve, vol.52, pp.559-567, 2015. ,
Protein measurement with the Folin phenol reagent, J. Biol. Chem, vol.193, pp.265-275, 1951. ,
Training improves oxidative capacity, but not function, in spinal muscular atrophy type III, Muscle Nerve, vol.52, pp.240-244, 2015. ,
Long-term exercise in mice has sex-dependent benefits on body composition and metabolism during aging, Physiol. Rep, vol.4, p.13011, 2016. ,
Sex differences during the course of diet-induced obesity in mice: adipose tissue expandability and glycemic control, Int. J. Obes. Lond, vol.36, pp.262-272, 2012. ,
Effect of exercise on fatty acid metabolism and adipokine secretion in adipose tissue, Front. Physiol, vol.10, p.26, 2019. ,
Motor neuron mitochondrial dysfunction in spinal muscular atrophy, Hum. Mol. Genet, vol.25, pp.3395-3406, 2016. ,
Single-blind, randomized, controlled clinical trial of exercise in ambulatory spinal muscular atrophy: why are the results negative?, J. Neuromuscul. Dis, vol.2, pp.463-470, 2015. ,
Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy, Neurology, vol.74, pp.833-838, 2010. ,
SNO'-storms compromise protein activity and mitochondrial metabolism in neurodegenerative disorders, Trends Endocrinol. Metab, vol.28, pp.879-892, 2017. ,
High-intensity exercise decreases IP6K1 muscle content and improves insulin sensitivity (SI2 * ) in glucoseintolerant individuals, J. Clin. Endocrinol. Metab, vol.103, pp.1479-1490, 2018. ,
Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle, J. Cell. Biol, vol.161, pp.571-582, 2003. ,
URL : https://hal.archives-ouvertes.fr/hal-02289336
6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction, Neuromuscul. Disord, vol.27, pp.879-882, 2017. ,
Determination of stable housekeeping genes, differentially regulated target genes and sample integrity: BestKeeper-Excel-based tool using pair-wise correlations, Biotechnol. Lett, vol.26, pp.509-515, 2004. ,
Lipolysis, lipogenesis, and adiposity are reduced while fatty acid oxidation is increased in visceral and subcutaneous adipocytes of endurance-trained rats, Adipocyte, vol.4, pp.22-31, 2015. ,
The use of lead citrate at high pH as an electron-opaque stain in electron microscopy, J. Cell Biol, vol.17, pp.208-212, 1963. ,
The impact of age and sex on body composition and glucose sensitivity in C57BL/6J mice, Physiol. Rep, vol.7, p.13995, 2019. ,
Impaired muscle mitochondrial biogenesis and myogenesis in spinal muscular atrophy, JAMA Neurol, vol.72, pp.666-675, 2015. ,
Pathological impact of SMN2 mis-splicing in adult SMA mice, EMBO Mol. Med, vol.5, pp.1586-1601, 2013. ,
Fructose induced lipogenesis: from sugar to fat to insulin resistance, Trends Endocrinol. Metab, vol.22, pp.60-65, 2011. ,
The pathogenesis of insulin resistance: integrating signaling pathways and substrate flux, J. Clin. Invest, vol.126, pp.12-22, 2016. ,
Cardiac defects contribute to the pathology of spinal muscular atrophy models, Hum. Mol. Genet, vol.19, pp.4059-4071, 2010. ,
Vascular defects and spinal cord hypoxia in spinal muscular atrophy, Ann. Neurol, vol.79, pp.217-230, 2016. ,
High resolution respirometry of permeabilized skeletal muscle fibers in the diagnosis of neuromuscular disorders, Mol. Cell Biochem, vol.174, pp.71-78, 1997. ,
Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy, Neuromuscul. Disord, vol.19, pp.391-396, 2009. ,
Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)?, Pediatr. Neurol, vol.12, 1995. ,
Glycosphingolipid-blotting: an immunological detection procedure after separation by thin layer chromatography, J. Immunol. Methods, vol.72, pp.471-479, 1984. ,
Establishing a standardized therapeutic testing protocol for spinal muscular atrophy, Neurobiol. Dis, vol.24, pp.286-295, 2006. ,
Sexual differences in onset of disease and response to exercise in a transgenic model of ALS, Neuromuscul. Disord, vol.13, pp.737-743, 2003. ,
Sex-dependent and independent effects of long-term voluntary wheel running on Bdnf mRNA and protein expression, Physiol. Behav, vol.156, pp.8-15, 2016. ,
Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload, Am. J. Pathol, vol.165, issue.10, pp.63428-63429, 2004. ,
High-intensity interval versus moderate-intensity continuous training: superior metabolic benefits in diet-induced obesity mice, Life Sci, vol.191, pp.122-131, 2017. ,
The effect of regular exercise on insulin sensitivity in type 2 diabetes mellitus: a systematic review and meta-analysis, Diabetes Metab. J, vol.40, pp.253-271, 2016. ,
Restricted mitochondrial protein acetylation initiates mitochondrial autophagy, J. Cell Sci, vol.126, pp.4843-4849, 2013. ,
Insulin signaling and insulin sensitivity after exercise in human skeletal muscle, Diabetes, vol.49, pp.325-331, 2000. ,
Sex differences in the white matter and myelinated fibers of APP/PS1 mice and the effects of running exercise on the sex differences of AD mice, Front. Aging Neurosci, vol.10, p.243, 2018. ,
Abnormal fatty acid metabolism in spinal muscular atrophy may predispose to perioperative risks, Eur. J. Paediatr. Neurol, vol.16, pp.549-553, 2012. ,