M. Mostacciuolo, E. Pastorello, G. Vazza, M. Miorin, C. Angelini et al., Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample, Clinical Genetics, vol.54, issue.6, 2009.
DOI : 10.1111/j.1399-0004.2009.01158.x

J. Deenen, H. Arnts, S. Van-der-maarel, G. Padberg, J. Verschuuren et al., Population-based incidence and prevalence of facioscapulohumeral dystrophy, Neurology, vol.83, issue.12, pp.1056-1065, 2014.
DOI : 10.1212/WNL.0000000000000797

R. Tawil, S. Van-der-maarel, and S. Tapscott, Facioscapulohumeral dystrophy: the path to consensus on pathophysiology, Skeletal Muscle, vol.4, issue.1, pp.10-1186, 2014.
DOI : 10.1016/j.nmd.2013.07.009

R. Lemmers, M. Wohlgemuth, K. Van-der-gaag, . Van-der, P. Vliet et al., Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy, The American Journal of Human Genetics, vol.81, issue.5, pp.884-94, 2007.
DOI : 10.1086/521986

R. Lemmers, R. Tawil, L. Petek, J. Balog, G. Block et al., Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2, Nature Genetics, vol.867, issue.12, pp.1370-1374, 2012.
DOI : 10.1038/nprot.2006.27
URL : https://hal.archives-ouvertes.fr/hal-00770764

L. Hartweck, L. Anderson, R. Lemmers, A. Dandapat, E. Toso et al., A focal domain of extreme demethylation within D4Z4 in FSHD2, Neurology, vol.80, issue.4
DOI : 10.1212/WNL.0b013e31827f075c

M. Gaillard, S. Roche, C. Dion, A. Tasmadjian, G. Bouget et al., Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers, Neurology, vol.83, issue.8
DOI : 10.1212/WNL.0000000000000708

M. Larsen, S. Rost, E. Hajj, N. Ferbert, A. Deschauer et al., Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1, European Journal of Human Genetics, vol.2, issue.6, pp.808-824, 2015.
DOI : 10.1016/j.nmd.2011.09.004

R. Lemmers, M. Van-den-boogaard, . Van-der, P. Vliet, C. Donlin-smith et al., Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2, Hum Mutat. Eur J Hum Genet, vol.36, issue.7, pp.679-83, 2015.

S. Mitsuhashi, S. Boyden, E. Estrella, T. Jones, F. Rahimov et al., Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2, Neuromuscular Disorders, vol.23, issue.12, pp.975-80, 2013.
DOI : 10.1016/j.nmd.2013.08.009

S. Sacconi, R. Lemmers, J. Balog, . Van-der, P. Vliet et al., The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1, The American Journal of Human Genetics, vol.93, issue.4, pp.744-51, 2013.
DOI : 10.1016/j.ajhg.2013.08.004
URL : https://hal.archives-ouvertes.fr/hal-00868887

J. Winston, L. Duerden, M. Mort, I. Frayling, M. Rogers et al., Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy, European Journal of Human Genetics, vol.23, issue.1, pp.67-71, 2015.
DOI : 10.1038/nature11011

A. Gendrel, A. Apedaile, H. Coker, A. Termanis, I. Zvetkova et al., Smchd1-Dependent and -Independent Pathways Determine Developmental Dynamics of CpG Island Methylation on the Inactive X Chromosome, Developmental Cell, vol.23, issue.2, pp.265-79, 2012.
DOI : 10.1016/j.devcel.2012.06.011

R. Nozawa, K. Nagao, K. Igami, S. Shibata, N. Shirai et al., Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway, Nature Structural & Molecular Biology, vol.69, issue.5, pp.566-73, 2013.
DOI : 10.1093/bioinformatics/btp352

A. Roberts, M. Blewitt, N. Youngson, E. Whitelaw, and S. Chong, Reduced dosage of the modifiers of epigenetic reprogramming Dnmt1, Dnmt3L, SmcHD1 and Foxo3a has no detectable effect on mouse telomere length in vivo, Chromosoma, vol.22, issue.3???4, pp.377-85, 2011.
DOI : 10.1007/s00412-011-0318-9

J. Hewitt, Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy: Figure 1., Human Molecular Genetics, vol.24, issue.R1, pp.17-23, 2015.
DOI : 10.1093/hmg/ddv237

G. Ricci, L. Ruggiero, L. Vercelli, F. Sera, A. Nikolic et al., A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes, Journal of Neurology, vol.93, issue.1, pp.1204-1218, 2016.
DOI : 10.1007/s00415-016-8123-2

K. Nguyen, P. Walrafen, R. Bernard, S. Attarian, C. Chaix et al., Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy, Annals of Neurology, vol.61, issue.4, pp.627-660, 2011.
DOI : 10.1002/ana.22513

F. Desmet, D. Hamroun, M. Lalande, G. Collod-beroud, M. Claustres et al., Human Splicing Finder: an online bioinformatics tool to predict splicing signals, Nucleic Acids Research, vol.37, issue.9, 2009.
DOI : 10.1093/nar/gkp215
URL : https://hal.archives-ouvertes.fr/inserm-00396239

D. Salgado, J. Desvignes, G. Rai, A. Blanchard, M. Miltgen et al., UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution, Human Mutation, vol.452, issue.Database issue, pp.439-485, 2016.
DOI : 10.1002/humu.22965
URL : https://hal.archives-ouvertes.fr/hal-01469049

F. Magdinier, L. Billard, G. Wittmann, L. Frappart, M. Benchaib et al., Regional methylation of the 5' end CpG island of BRCA1 is associated with reduced gene expression in human somatic cells, The FASEB Journal, vol.14, issue.11, pp.1585-94, 2000.
DOI : 10.1096/fj.14.11.1585

C. Bock, S. Reither, T. Mikeska, M. Paulsen, J. Walter et al., BiQ Analyzer: visualization and quality control for DNA methylation data from bisulfite sequencing, Bioinformatics, vol.21, issue.21, pp.4067-4075, 2005.
DOI : 10.1093/bioinformatics/bti652

V. Mariot, S. Roche, C. Hourde, D. Portilho, S. Sacconi et al., Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy, Annals of Neurology, vol.118, issue.3, pp.387-400, 2015.
DOI : 10.1002/ana.24446
URL : https://hal.archives-ouvertes.fr/hal-01431338

L. Martin, A. Grigoryan, D. Wang, J. Wang, L. Breda et al., Identification and Characterization of Small Molecules That Inhibit Nonsense-Mediated RNA Decay and Suppress Nonsense p53 Mutations, Cancer Research, vol.74, issue.11, pp.3104-3117, 2014.
DOI : 10.1158/0008-5472.CAN-13-2235

N. Broucqsault, J. Morere, M. Gaillard, J. Dumonceaux, J. Torrents et al., Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy, Human Molecular Genetics, vol.22, issue.20, pp.4206-4220, 2013.
DOI : 10.1093/hmg/ddt272
URL : https://hal.archives-ouvertes.fr/hal-00843503

L. Snider, L. Geng, R. Lemmers, M. Kyba, C. Ware et al., Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene, PLoS Genetics, vol.1, issue.10, 2010.
DOI : 10.1371/journal.pgen.1001181.t005

G. Ferri, C. Huichalaf, R. Caccia, and D. Gabellini, Direct interplay between two candidate genes in FSHD muscular dystrophy, Human Molecular Genetics, vol.24, issue.5, pp.1256-66, 2015.
DOI : 10.1093/hmg/ddu536

F. Puppo, E. Dionnet, M. Gaillard, P. Gaildrat, C. Castro et al., in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype, Human Mutation, vol.219, issue.4, pp.443-53, 2015.
DOI : 10.1038/ejhg.2014.191
URL : https://hal.archives-ouvertes.fr/hal-01431349

N. Caruso, B. Herberth, M. Bartoli, F. Puppo, J. Dumonceaux et al., Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy, PLoS Genetics, vol.107, issue.6, 2013.
DOI : 10.1371/journal.pgen.1003550.s017
URL : https://hal.archives-ouvertes.fr/hal-00862092

J. Robin, A. Ludlow, K. Batten, M. Gaillard, G. Stadler et al., transcription is activated by telomere position effect???over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy, Genome Research, vol.25, issue.12, pp.1781-90, 2015.
DOI : 10.1101/gr.190660.115

M. Ferreboeuf, V. Mariot, B. Bessieres, A. Vasiljevic, T. Attie-bitach et al., DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles, Hum Mol Genet
URL : https://hal.archives-ouvertes.fr/hal-00868855

L. Geng, Z. Yao, L. Snider, A. Fong, J. Cech et al., DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy, Developmental Cell, vol.22, issue.1, pp.38-51, 2012.
DOI : 10.1016/j.devcel.2011.11.013