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.2037-2079, 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. ,
Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy, Muscle Nerve, vol.2, pp.103-112, 1995. ,
Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions, Genomics, vol.19, pp.21-27, 1994. ,
Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD), Hum Mol Genet, vol.4, pp.951-959, 1995. ,
Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group, Ann Neurol, vol.39, pp.744-752, 1996. ,
Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy, Ann Neurol, vol.58, pp.569-76, 2005. ,
Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle, Cell, vol.110, pp.339-387, 2002. ,
Facioscapulohu meral muscular dystrophy in mice overexpressing FRG1, Nature, vol.439, pp.973-980, 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.2909-2930, 2003. ,
Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation, Hum Mol Genet, vol.12, pp.2895-907, 2003. ,
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. ,
The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein, Neuromuscul Disord, vol.17, pp.611-634, 2007. ,
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1, Proc Natl Acad Sci USA, vol.104, pp.18157-62, 2007. ,
Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3 kb dispersed repeated elements, Hum Mol Genet, vol.7, pp.1681-94, 1998. ,
A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulohumeral dystrophy, Genome Res, vol.18, pp.39-45, 2008. ,
Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts, Proc Natl Acad Sci USA, vol.103, pp.6982-6989, 2006. ,
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy, Am J Hum Genet, vol.81, pp.884-94, 2007. ,
Facioscapulohumeral muscular dystrophy, Biochim Biophys Acta, vol.1772, pp.186-94, 2007. ,
URL : https://hal.archives-ouvertes.fr/hal-00480367
Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress, Neuromuscul Disord, vol.13, pp.322-325, 2003. ,
Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patients, Gene Ther, vol.12, pp.1651-62, 2005. ,
Improved characterization of FSHD mutations, Ann Genet, vol.44, pp.105-115, 2001. ,
Monocarboxylate transporters, blood lactate removal after supramaximal exercise, and fatigue indexes in humans, J Appl Physiol, vol.98, pp.804-813, 2005. ,
URL : https://hal.archives-ouvertes.fr/inserm-00148282
Relationships between maximal muscle oxidative capacity and blood lactate removal after supramaximal exercise and fatigue indexes in humans, J Appl Physiol, vol.97, pp.2132-2140, 2004. ,
URL : https://hal.archives-ouvertes.fr/hal-01587415
Inhibition of Notch signaling induces myotube hypertrophy by recruiting a subpopulation of reserve cells, J Cell Physiol, vol.208, pp.538-586, 2006. ,
MRI Cell Image Analyzer--A visual scripting interface for ImageJ and its usage at the microscopy facility Montpellier RIO Imaging, Proceedings of the ImageJ User and Developer Conference, pp.105-115 ,
Replicating myoblasts express a muscle-specific phenotype, Proc Natl Acad Sci USA, vol.85, pp.9606-9616, 1988. ,
Human adult craniofacial muscle-derived cells: neural-cell adhesion-molecule ,
, CD56)-expressing cells appear to contain multipotential stem cells, Biotechnol Appl Biochem, vol.40, pp.25-34, 2004.
Isolation and characterization of mesoangioblasts from facioscapulohumeral muscular dystrophy muscle biopsies, Stem Cells, vol.25, pp.3173-82, 2007. ,
Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation, FEBS Lett, vol.537, pp.133-141, 2003. ,
Microtubule-dependent transport and organization of sarcomeric myosin during skeletal muscle differentiation, Embo J, vol.24, pp.3781-92, 2005. ,
URL : https://hal.archives-ouvertes.fr/hal-00016383
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy, Nat Genet, vol.35, pp.315-322, 2003. ,
Defective satellite cells in congenital myotonic dystrophy, Hum Mol Genet, vol.10, pp.2079-87, 2001. ,
Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts, Neuromuscul Disord, vol.11, pp.728-763, 2001. ,
Molecular basis for impaired muscle differentiation in myotonic dystrophy, Mol Cell Biol, vol.21, pp.6927-6965, 2001. ,
Differentiation properties of pure populations of human dystrophic muscle cells, Exp Cell Res, vol.144, pp.495-503, 1983. ,
RAGE-NF-kappaB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy, Acta Neurol Scand, vol.115, pp.115-136, 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.216-240, 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 MyoDdependent genes, Proteomics, vol.6, pp.5303-5324, 2006. ,