Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI, J. Neurol, vol.253, pp.1437-1441, 2006. ,
, Phys. Ther, vol.88, pp.105-113, 2008.
Facioscapulohumeral muscular dystrophy, Muscle Nerve, vol.34, pp.1-15, 2006. ,
URL : https://hal.archives-ouvertes.fr/hal-00770764
Ventilatory support in facioscapulohumeral muscular dystrophy, Neurology, vol.63, pp.176-178, 2004. ,
Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy, Neurology, vol.51, pp.1454-1456, 1998. ,
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit, Hum. Mol. Genet, vol.2, pp.2037-2042, 1993. ,
Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35, Muscle Nerve, vol.2, pp.6-13, 1995. ,
Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy, Hum. Mol. Genet, vol.3, pp.1287-1295, 1994. ,
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element, Gene, vol.236, pp.25-32, 1999. ,
Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers, Proc. Natl. Acad. Sci. USA, vol.106, pp.6220-6225, 2009. ,
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1, Nature, vol.439, pp.973-977, 2006. ,
Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q, Hum. Mol. Genet, vol.12, pp.2909-2921, 2003. ,
Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy, Neurology, vol.68, pp.569-577, 2007. ,
Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress, Neuromuscul. Disord, vol.13, pp.322-333, 2003. ,
Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation, Hum. Mol. Genet, vol.12, pp.2895-2907, 2003. ,
Facioscapulohumeral muscular dystrophy, Neurotherapeutics, vol.5, pp.601-606, 2008. ,
URL : https://hal.archives-ouvertes.fr/hal-00770764
, Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD), 2009.
Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy, Muscle Nerve, vol.2, pp.103-109, 1995. ,
Dinucleotide repeat polymorphism adjacent to the ANT1 gene on 4q35, Nucleic Acids Res, vol.20, p.1161, 1992. ,
A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed, J. Biol. Chem, vol.264, pp.13998-14004, 1989. ,
Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35, Hum. Mol. Genet, vol.5, pp.581-590, 1996. ,
FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients, J. Med. Genet, vol.41, pp.826-836, 2004. ,
A unifying genetic model for facioscapulohumeral muscular dystrophy, Science, vol.329, pp.1650-1653, 2010. ,
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies, EMBO J, vol.27, pp.2766-2779, 2008. ,
The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein, Neuromuscul. Disord, vol.17, pp.611-623, 2007. ,
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1, Proc. Natl. Acad. Sci. USA, vol.104, pp.18157-18162, 2007. ,
Belayew, A. The FSHD atrophic myotube phenotype is caused by DUX4 expression, PLoS One, vol.6, 2011. ,
DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo, Ann. Neurol, 2010. ,
RAGE-NF-kappaB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy, Acta Neurol. Scand, vol.115, pp.115-121, 2007. ,
Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle, J. Mol. Med, vol.83, pp.216-224, 2005. ,
Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes, Proteomics, vol.6, pp.5303-5321, 2006. ,
Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects, J. Cell. Mol. Med, vol.14, pp.275-289, 2010. ,
URL : https://hal.archives-ouvertes.fr/inserm-00284424
Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns, PLoS One, vol.6, 2011. ,
Management of progressive muscular dystrophy in childhood, JAMA, vol.184, pp.89-96, 1963. ,
A physical activity questionnaire for the elderly, Med. Sci. Sports Exerc, vol.23, pp.974-979, 1991. ,
Maximal respiratory pressures: normal values and relationship to age and sex, Am. Rev. Respir. Dis, vol.99, pp.696-702, 1969. ,
Does oxidative stress alter quadriceps endurance in chronic obstructive pulmonary disease?, Am. J. Respir. Crit. Care Med, vol.169, pp.1022-1027, 2004. ,
Evidence of local exercise-induced systemic oxidative stress in chronic obstructive pulmonary disease patients, Eur. Respir. J, vol.20, pp.1123-1129, 2002. ,
URL : https://hal.archives-ouvertes.fr/hal-01622943
Impaired skeletal muscle endurance related to physical inactivity and altered lung function in COPD patients, Chest, vol.113, pp.900-905, 1998. ,
URL : https://hal.archives-ouvertes.fr/hal-01625242
Implication of xanthine oxidase in muscle oxidative stress in COPD patients, Free Radic. Res, vol.42, pp.807-814, 2008. ,
The 2-minute walk test as a measure of functional improvement in persons with lower limb amputation, Arch. Phys. Med. Rehabil, vol.82, pp.1478-1483, 2001. ,
Reliability, validity, and responsiveness of a 2-min walk test to assess exercise capacity of COPD patients, Chest, vol.130, pp.119-125, 2006. ,
Monocarboxylate transporters, blood lactate removal after supramaximal exercise, and fatigue indexes in humans, J. Appl. Physiol, vol.98, pp.804-809, 2005. ,
URL : https://hal.archives-ouvertes.fr/inserm-00148282
Effects of intermittent hypoxic training on amino and fatty acid oxidative combustion in human permeabilized muscle fibers, J. Appl. Physiol, vol.102, pp.79-86, 2007. ,
URL : https://hal.archives-ouvertes.fr/hal-01587344
, Rev. Med. Liege, vol.62, pp.628-638, 2007.
Evaluation biologique du stress oxydant: application en routine clinique, Nutr. Endocrinol, pp.16-31, 2009. ,
Effect of different contraceptive methods on the oxidative stress status in women aged 40 48 years from the ELAN study in the province of Liege, Hum. Reprod, vol.22, pp.2335-2343, 2007. ,
Quantification of ceroid and lipofuscin in skeletal muscle, J. Histochem. Cytochem, vol.59, pp.769-779, 2011. ,
Oxidative stress as a potential pathogenic mechanism in an animal model of Duchenne muscular dystrophy, Neuromuscul. Disord, vol.7, pp.379-386, 1997. ,
Patients with dystrophinopathy show evidence of increased oxidative stress. Free Radic, Biol. Med, vol.34, pp.1217-1220, 2003. ,
Early onset of lipofuscin accumulation in dystrophin-deficient skeletal muscles of DMD patients and mdx mice, J. Mol. Histol, vol.35, pp.489-499, 2004. ,
Immunochemical detection of oxidized proteins, Chem. Res. Toxicol, vol.6, pp.430-433, 1993. ,
Protein oxidation, Ann. N. Y. Acad. Sci, vol.899, pp.191-208, 2000. ,
Mitochondrial regular arrangement in muscle cells: a crystal-like pattern, Am. J. Physiol. Cell Physiol, vol.288, pp.757-767, 2005. ,
URL : https://hal.archives-ouvertes.fr/inserm-00391045
Simvastatin induces impairment in skeletal muscle while heart is protected, Biochem. Biophys. Res. Commun, vol.338, pp.1426-1434, 2005. ,
Analysis of mitochondrial function in situ in permeabilized muscle fibers, tissues and cells, Nat. Protoc, vol.3, pp.965-976, 2008. ,
synthesis in permeabilized cells: assessment of the ATP/O values in situ, Anal. Biochem, vol.263, pp.169-175, 1998. ,
Cytochrome c oxidase is decreased in Alzheimer's disease platelets, Neurobiol. Aging, vol.25, pp.105-110, 2004. ,
Excitotoxicity and nitric oxide in Parkinson's disease pathogenesis, Ann. Neurol, vol.44, pp.110-114, 1998. ,
FRG1P is localised in the nucleolus, Cajal bodies, and speckles, J. Med. Genet, vol.41, p.46, 2004. ,
FRG1P-mediated aggregation of proteins involved in pre-mRNA processing, Chromosoma, vol.116, pp.53-64, 2007. ,
Muscular dystrophy candidate gene FRG1 is critical for muscle development, Dev. Dyn, vol.238, pp.1502-1512, 2009. ,
region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy, Dis. Model Mech, vol.2, pp.267-274, 2009. ,
Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?, Hum. Genet, vol.131, pp.325-340, 2012. ,
DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy, Dev. Cell, vol.22, pp.38-51, 2012. ,
Ferritin concentrations, metabolic syndrome, and type 2 diabetes in middle-aged and elderly chinese, J. Clin. Endocrinol. Metab, vol.93, pp.4690-4696, 2008. ,
Ascorbyl free radical as a reliable indicator of free-radical-mediated myocardial ischemic and post-ischemic injury. A real-time continuous-flow ESR study, Eur. J. Biochem, vol.193, pp.845-854, 1990. ,
Ascorbyl free radical: a noninvasive marker of oxidative stress in human open-heart surgery. Free Radic, Biol. Med, vol.16, pp.523-528, 1994. ,
Modulation of IL-1-induced chemokine expression in human mesangial cells through alterations in redox status, Cytokine, vol.9, pp.178-186, 1997. ,
Treatment with glutathione precursor decreases cytokine activity, JPEN J. Parenter. Enteral Nutr, vol.23, pp.1-6, 1999. ,
Chemioxyexcitation (delta pO2/ROS)-dependent release of IL-1 beta, IL-6 and TNF-alpha: evidence of cytokines as oxygen-sensitive mediators in the alveolar epithelium, Cytokine, vol.13, pp.138-147, 2001. ,
trans-2,4-decadienal, a product found in cooking oil fumes, induces cell proliferation and cytokine production due to reactive oxygen species in human bronchial epithelial cells, Toxicol. Sci, vol.87, pp.337-343, 2005. ,
Superoxide, hydroxyl radical, and hydrogen peroxide effects on single-diaphragm fiber contractile apparatus, J. Appl. Physiol, vol.90, pp.45-54, 2001. ,
Sequential effects of GSNO and H2O 2 on the Ca 2 þ sensitivity of the contractile apparatus of fast-and slow-twitch skeletal muscle fibers from the rat, Am. J. Physiol. Cell Physiol, vol.296, pp.1015-1023, 2009. ,
O2( n-) production at 37 degrees C plays a critical role in depressing tetanic force of isolated rat and mouse skeletal muscle, Am. J. Physiol. Cell Physiol, vol.293, pp.650-660, 2007. ,
Permeabilized cell and skinned fiber techniques in studies of mitochondrial function in vivo, Mol. Cell. Biochem, vol.184, pp.81-100, 1998. ,
URL : https://hal.archives-ouvertes.fr/inserm-00391349
Intracellular retention of caveolin 1 in presenilin-deficient cells, J. Biol. Chem, vol.280, pp.6663-6668, 2005. ,
Mornet, D. Formation of multiple complexes between beta-dystroglycan and dystrophin family products, J. Muscle Res. Cell Motil, vol.24, pp.387-397, 2003. ,
Assay for lipid peroxides in animal tissues by thiobarbituric acid reaction, Anal. Biochem, vol.95, pp.351-358, 1979. ,
Hypoxaemia enhances peripheral muscle oxidative stress in chronic obstructive pulmonary disease, Thorax, vol.60, pp.834-841, 2005. ,
Selected methods for the determination of ascorbic acid in animal cells, tissues, and fluids, Methods Enzymol, vol.62, pp.3-11, 1979. ,
Simultaneous determination of vitamins C, E and beta-carotene in human plasma by high-performance liquid chromatography with photodiode-array detection, J. Pharm. Pharm. Sci, vol.7, pp.200-204, 2004. ,
The use of different lipids to express serum tocopherol: lipid ratios for the measurement of vitamin E status, Ann. Clin. Biochem, vol.23, pp.514-520, 1986. ,
Vitamins E plus C and interacting conutrients required for optimal health. A critical and constructive review of epidemiology and supplementation data regarding cardiovascular disease and cancer, Biofactors, vol.7, pp.113-174, 1998. ,
Comparison of plasma alpha and gamma tocopherol levels following chronic oral administration of either all-rac-alpha-tocopheryl acetate or RRR-alpha-tocopheryl acetate in normal adult male subjects, Am. J. Clin. Nutr, vol.43, pp.382-387, 1986. ,
Development and application of a simple routine method for the determination of selenium in serum by octopole reaction system ICPMS, Anal. Bioanal. Chem, vol.381, pp.686-694, 2005. ,
Simulation of multiple isotropic spin-trap EPR spectra, J. Magn. Reson. B, vol.104, pp.105-110, 1994. ,