34. Beste C, Ocklenburg S, von der Hagen M, Di Donato N. Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture. Brain Struct Funct. 2015. Epub 2015/05/02. https://doi.org/10.1007/s00429-015-1051-6 PMID: 25930014.

35. Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Srour M, et al. Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nat Genet. 2013; 45(11):1300–8. Epub 2013/09/24. https://doi.org/10.1038/ng.2765 PMID: 24056717.

36. Gee HY, Sadowski CE, Aggarwal PK, Porath JD, Yakulov TA, Schueler M, et al. FAT1 mutations cause a glomerulotubular nephropathy. Nat Commun. 2016; 7:10822. Epub 2016/02/26. https://doi.org/10.1038/ncomms10822 PMID: 26905694.

37. Ciani L, Patel A, Allen ND, fFrench-Constant C. Mice lacking the giant protocadherin mFAT1 exhibit renal slit junction abnormalities and a partially penetrant cyclopia and anophthalmia phenotype. Mol Cell Biol. 2003; 23(10):3575–82. Epub 2003/05/02. https://doi.org/10.1128/MCB.23.10.3575-3582. 2003 PMID: 12724416.

38. Badouel C, Zander MA, Liscio N, Bagherie-Lachidan M, Sopko R, Coyaud E, et al. Fat1 interacts with Fat4 to regulate neural tube closure, neural progenitor proliferation and apical constriction during mouse brain development. Development. 2015; 142(16):2781–91. Epub 2015/07/26. https://doi.org/10.1242/dev.123539 PMID: 26209645.

39. Haase G, Dessaud E, Garces A, de Bovis B, Birling M, Filippi P, et al. GDNF acts through PEA3 to regulate cell body positioning and muscle innervation of specific motor neuron pools. Neuron. 2002; 35(5):893–905. Epub 2002/10/10. PMID: 12372284.

40. Vrieseling E, Arber S. Target-induced transcriptional control of dendritic patterning and connectivity in motor neurons by the ETS gene Pea3. Cell. 2006; 127(7):1439–52. Epub 2006/12/28. https://doi.org/10.1016/j.cell.2006.10.042 PMID: 17190606.

41. Livet J, Sigrist M, Stroebel S, De Paola V, Price SR, Henderson CE, et al. ETS gene Pea3 controls the central position and terminal arborization of specific motor neuron pools. Neuron. 2002; 35(5):877–92. Epub 2002/10/10. PMID: 12372283.

42. Wright DE, Snider WD. Focal expression of glial cell line-derived neurotrophic factor in developing mouse limb bud. Cell Tissue Res. 1996; 286(2):209–17. Epub 1996/11/01. PMID: 8854889.

43. Garces A, Haase G, Airaksinen MS, Livet J, Filippi P, deLapeyriere O. GFRalpha 1 is required for development of distinct subpopulations of motoneuron. J Neurosci. 2000; 20(13):4992–5000. Epub 2000/06/24. PMID: 10864957.

44. Treanor JJ, Goodman L, de Sauvage F, Stone DM, Poulsen KT, Beck CD, et al. Characterization of a multicomponent receptor for GDNF. Nature. 1996; 382(6586):80–3. Epub 1996/07/04. https://doi.org/10.1038/382080a0 PMID: 8657309.

45. Durbec P, Marcos-Gutierrez CV, Kilkenny C, Grigoriou M, Wartiowaara K, Suvanto P, et al. GDNF signalling through the Ret receptor tyrosine kinase. Nature. 1996; 381(6585):789–93. Epub 1996/06/27. https://doi.org/10.1038/381789a0 PMID: 8657282.

46. Caruso N, Herberth B, Lamballe F, Arce-Gorvel V, Maina F, Helmbacher F. Plasticity versus specificity in RTK signalling modalities for distinct biological outcomes in motor neurons. BMC Biol. 2014; 12:56. Epub 2014/08/16. https://doi.org/10.1186/s12915-014-0056-6 PMID: 25124859.

47. Helmbacher F, Dessaud E, Arber S, deLapeyriere O, Henderson CE, Klein R, et al. Met signaling is required for recruitment of motor neurons to PEA3-positive motor pools. Neuron. 2003; 39(5):767–77. Epub 2003/09/02. PMID: 12948444.

48. Price SR, De Marco Garcia NV, Ranscht B, Jessell TM. Regulation of motor neuron pool sorting by differential expression of type II cadherins. Cell. 2002; 109(2):205–16. Epub 2002/05/15. PMID: 12007407.

49. Fukuhara K, Imai F, Ladle DR, Katayama K, Leslie JR, Arber S, et al. Specificity of Monosynaptic Sensory-Motor Connections Imposed by Repellent Sema3E-PlexinD1 Signaling. Cell Rep. 2013; 5(3):748–58. Epub 2013/11/12. https://doi.org/10.1016/j.celrep.2013.10.005 PMID: 24210822.

50. Pecho-Vrieseling E, Sigrist M, Yoshida Y, Jessell TM, Arber S. Specificity of sensory-motor connections encoded by Sema3e-Plxnd1 recognition. Nature. 2009; 459(7248):842–6. Epub 2009/05/08. https://doi.org/10.1038/nature08000 PMID: 19421194.

51. Dudanova I, Klein R. Integration of guidance cues: parallel signaling and crosstalk. Trends Neurosci. 2013; 36(5):295–304. Epub 2013/03/15. https://doi.org/10.1016/j.tins.2013.01.007 PMID: 23485451.

52. Bonanomi D, Chivatakarn O, Bai G, Abdesselem H, Lettieri K, Marquardt T, et al. Ret is a multifunctional coreceptor that integrates diffusible- and contact-axon guidance signals. Cell. 2012; 148(3):568–82. Epub 2012/02/07. https://doi.org/10.1016/j.cell.2012.01.024 PMID: 22304922.
53. Dudanova I, Gatto G, Klein R. GDNF acts as a chemoattractant to support ephrinA-induced repulsion of limb motor axons. Curr Biol. 2010; 20(23):2150-6. Epub 2010/11/27. https://doi.org/10.1016/j.cub.2010.11.021 PMID: 21109439.

54. Kramer ER, Knott L, Su F, Dessaud E, Krull CE, Helmbacher F, et al. Cooperation between GDNF/Ret and ephrinA/EphA4 signals for motor-axon pathway selection in the limb. Neuron. 2006; 50(1):35-47. Epub 2006/04/08. https://doi.org/10.1016/j.neuron.2006.02.020 PMID: 16600854.

55. Charoy C, Nawabi H, Reynaud F, Derrington E, Bozon M, Wright K, et al. gdnf activates midline repulsion by Semaphorin3B via NCAM during commissural axon guidance. Neuron. 2012; 75(6):1051-66. Epub 2012/09/25. https://doi.org/10.1016/j.neuron.2012.08.021 PMID: 22998873.

56. Shneider NA, Brown MN, Smith CA, Pickel J, Alvarez FJ. Gamma motor neurons express distinct genetic markers at birth and require muscle spindle-derived GDNF for postnatal survival. Neural Dev. 2009; 4:42. Epub 2009/12/04. https://doi.org/10.1186/1749-8104-4-42 PMID: 19954518.

57. Henderson CE, Phillips HS, Pollock RA, Davies AM, Lemeulle C, Armanini M, et al. GDNF: a potent survival factor for motoneurons present in peripheral nerve and muscle. Science. 1994; 266 (5187):1062-4. Epub 1994/11/11. PMID: 7973664.

58. Kelly RG, Zammit PS, Schneider A, Alonso S, Biben C, Buckingham ME. Embryonic and fetal myogenic programs act through separate enhancers at the MLC1F/3F locus. Dev Biol. 1997; 187(2):183-99. Epub 1997/07/15. https://doi.org/10.1006/dbio.1997.8577 PMID: 9242416.

59. Kelly R, Alonso S, Tajbakhsh S, Cossu G, Buckingham M. Myosin light chain 3F regulatory sequences confer regionalized cardiac and skeletal muscle expression in transgenic mice. J Cell Biol. 1995; 129 (2):383-96. Epub 1995/04/01. PMID: 7721942.

60. Lamballe F, Genestine M, Caruso N, Arce V, Richelme S, Helmbacher F, et al. Pool-specific regulation of motor neuron survival by neurotrophic support. J Neurosci. 2011; 31(31):11144-58. Epub 2011/08/05. https://doi.org/10.1523/JNEUROSCI.2198-11.2011 PMID: 21813676.

61. Maina F, Casagranda F, Audero E, Simeone A, Comoglio PM, Klein R, et al. Uncoupling of Grb2 from the Met receptor in vivo reveals complex roles in muscle development. Cell. 1996; 87(3):531-42. Epub 1996/11/01. PMID: 8898205.

62. Bladt F, Riethmacher D, Isenmann S, Aguzzi A, Birchmeier C. Essential role for the c-met receptor in the migration of myogenic precursor cells into the limb bud. Nature. 1995; 376(6543):768-71. Epub 1995/08/31. https://doi.org/10.1038/376768a0 PMID: 7651534.

63. Buckingham M, Relaix F. PAX3 and PAX7 as upstream regulators of myogenesis. Semin Cell Dev Biol. 2015; 44:115-25. Epub 2015/10/02. https://doi.org/10.1016/j.semcdb.2015.09.017 PMID: 26424495.

64. Engleka KA, Gitler AD, Zhang M, Zhou DD, High FA, Epstein JA. Insertion of Cre into the Pax3 locus creates a new allele of Splotch and identifies unexpected Pax3 derivatives. Dev Biol. 2005; 280 (2):396-406. Epub 2005/05/11. https://doi.org/10.1016/j.ydbio.2005.02.002 PMID: 15882581.

65. Tremblay P, Dietrich S, Mericskay M, Schubert FR, Li Z, Paulin D. A crucial role for Pax3 in the development of the hypaxial musculature and the long-range migration of muscle precursors. Dev Biol. 1998; 203(1):49-61. Epub 1998/11/10. https://doi.org/10.1006/dbio.1998.9041 PMID: 9806772.

66. Srinivas S, Watanabe T, Lin CS, William CM, Tanabe Y, Jessell TM, et al. Cre reporter strains produced by targeted insertion of EYFP and ECFP into the ROSA26 locus. BMC Dev Biol. 2001; 1:4. Epub 2001/04/12. https://doi.org/10.1186/1471-213X-1-4 PMID: 11299042.

67. Stifani N, Freitas AR, Liakhovitskaia A, Medvinsky A, Kania A, Stifani S. Suppression of interneuron programs and maintenance of selected spinal motor neuron fates by the transcription factor AML1/ Runx1. Proc Natl Acad Sci U S A. 2008; 105(17):6451-6. Epub 2008/04/23. https://doi.org/10.1073/pnas.0711299105 PMID: 18427115.

68. Zhang F, Kumano M, Beraldi E, Fazli L, Du C, Moore S, et al. Clusterin facilitates stress-induced lipidation of LC3 and autophagosome biogenesis to enhance cancer cell survival. Nat Commun. 2014; 5:5775. Epub 2014/12/17. https://doi.org/10.1038/ncomms6775 PMID: 25503391.

69. Shannan B, Seifert M, Leskov K, Willis J, Boothman D, Tilgen W, et al. Challenge and promise: roles for clusterin in pathogenesis, progression and therapy of cancer. Cell Death Differ. 2006; 13(1):12-9. Epub 2005/09/24. https://doi.org/10.1038/sj.cdd.4401779 PMID: 16179938.

70. Zhang H, Kim JK, Edwards CA, Xu Z, Taichman R, Wang CY. Clusterin inhibits apoptosis by interacting with activated Bax. Nat Cell Biol. 2005; 7(9):909-15. Epub 2005/08/23. https://doi.org/10.1038/ncb1291 PMID: 16113678.

71. Wicher GK, Aldskogius H. Adult motor neurons show increased susceptibility to axotomy-induced death in mice lacking clusterin. Eur J Neurosci. 2005; 21(7):2024-8. Epub 2005/05/05. https://doi.org/10.1111/j.1460-9568.2005.04008.x PMID: 15869496.
72. Dessaud E, Yang LL, Hill K, Cox B, Ulloa F, Ribeiro A, et al. Interpretation of the sonic hedgehog morphogen gradient by a temporal adaptation mechanism. Nature. 2007; 450(7170):717-20. Epub 2007/11/30. https://doi.org/10.1038/nature06347 PMID: 18046410.

73. Durland JL, Sferlazzo M, Logan M, Burke AC. Visualizing the lateral somitic frontier in the Prx1Cre transgenic mouse. J Anat. 2008; 212(5):590-602. Epub 2008/04/24. https://doi.org/10.1111/j.1469-7580.2008.00879.x PMID: 18430087.

74. Logan M, Martin JF, Nagy A, Lobe C, Olson EN, Tabin CJ. Expression of Cre Recombinase in the developing mouse limb bud driven by a Prxl enhancer. Genesis. 2002; 33(2):77-80. Epub 2002/07/12. https://doi.org/10.1002/gene.10092 PMID: 12112875.

75. Danielian PS, Muccino D, Rowitch DH, Michael SK, McMahon AP. Modification of gene activity in mouse embryos in utero by a tamoxifen-inducible form of Cre recombinase. Curr Biol. 1998; 8(24):1323-6. Epub 1998/12/09. PMID: 9843687.

76. Le Lievre CS, Le Douarin NM. Mesenchymal derivatives of the neural crest: analysis of chimaeric quail and chick embryos. J Embryol Exp Morphol. 1975; 34(1):125-54. Epub 1975/08/01. PMID: 1185098.

77. Mathew SJ, Hansen JM, Merrell AJ, Murphy MM, Lawson JA, Hutcheson DA, et al. Connective tissue fibroblasts and Tcf4 regulate myogenesis. Development. 2011; 138(2):371-84. Epub 2010/12/24. https://doi.org/10.1242/dev.057463 PMID: 21177349.

78. Kardon G, Harfe BD, Tabin CJ. A Tcf4-positive mesodermal population provides a prepattern for vertebrate limb muscle patterning. Dev Cell. 2003; 5(6):937-44. Epub 2003/12/12. PMID: 14667415.

79. Rivers LE, Young KM, Rizzi M, Jamen F, Psachoulia K, Wade A, et al. PDGFRA/NG2 glia generate myelinating oligodendrocytes and piriform projection neurons in adult mice. Nat Neurosci. 2008; 11(12):1392-401. Epub 2008/10/14. https://doi.org/10.1038/nn.2220 PMID: 18849983.

80. Tallquist MD, Weismann KE, Hellstrom M, Soriano P. Early myotome specification regulates PDGFA expression and axial skeleton development. Development. 2000; 127(23):5059-70. Epub 2000/11/04. PMID: 11060232.

81. Brockschnieder D, Pechmann Y, Sonnenberg-Riethmacher E, Riethmacher D. An improved mouse line for Cre-induced cell ablation due to diphtheria toxin A, expressed from the Rosa26 locus. Genesis. 2006; 44(7):322-7. https://doi.org/10.1002/dvg.20218 PMID: 16791847.

82. Lewis J, Chevallier A, Kieny M, Wolpert L. Muscle nerve branches do not develop in chick wings devoid of muscle. J Embryol Exp Morphol. 1981; 64:211-32. Epub 1981/08/01. PMID: 7310301.

83. Zecca M, Struhl G. A feed-forward circuit linking wingless, fat-dachsous signaling, and the warts-hippo pathway to Drosophila wing growth. PLoS Biol. 2010; 8(6):e1000386. Epub 2010/06/10. https://doi.org/10.1371/journal.pbio.1000386 PMID: 20532238.

84. Fan Y, Richelme S, Avazeri E, Audebert S, Helmbacher F, Dono R, et al. Tissue-Specific Gain of RTK Signalling Uncovers Selective Cell Vulnerability during Embryogenesis. PLoS Genet. 2015; 11(9): e1005533. Epub 2015/09/24. https://doi.org/10.1371/journal.pgen.1005533 PMID: 26393505.

85. Vasyutina E, Stebler J, Brand-Saberi B, Schulz S, Raz E, Birchmeier C. CXCR4 and Gab1 cooperate to control the development of migrating muscle progenitor cells. Genes Dev. 2005; 19(18):2187-98. Epub 2005/09/17. https://doi.org/10.1101/gad.346205 PMID: 16166380.

86. Lieberam I, Agalliu D, Nagasawa T, Ericson J, Jessell TM. A Cxcl12-CXCR4 chemokine signaling pathway defines the initial trajectory of mammalian motor axons. Neuron. 2005; 47(5):667-79. Epub 2005/09/01. https://doi.org/10.1016/j.neuron.2005.08.011 PMID: 16129397.

87. Barriga EH, Franze K, Charras G, Mayor R. Tissue stiffening coordinates morphogenesis by triggering collective cell migration in vivo. Nature. 2018. Epub 2018/02/15. https://doi.org/10.1038/nature25742 PMID: 29443958.

88. Poliak S, Norovich AL, Yamagata M, Sanes JR, Jessell TM. Muscle-type Identity of Proprioceptors Specified by Spatially Restricted Signals from Limb Mesenchyme. Cell. 2016; 164(3):512-25. Epub 2016/01/30. https://doi.org/10.1016/j.cell.2015.12.049 PMID: 26824659.

89. Colasanto MP, Eyal S, Mohassel P, Bamshad M, Bonnemann CG, Zelzer E, et al. Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3. Dis Model Mech. 2016; 9(11):1257-69. Epub 2016/08/05. https://doi.org/10.1242/dmm.025874 PMID: 27491074.

90. Merrell AJ, Ellis BJ, Fox ZD, Lawson JA, Weiss JA, Kardon G. Muscle connective tissue controls development of the diaphragm and is a source of congenital diaphragmatic hernias. Nat Genet. 2015; 47(5):496-504. Epub 2015/03/26. https://doi.org/10.1038/ng.3250 PMID: 25807280.

91. Hasson P, DeLaurier A, Bennett M, Grigorieva E, Naiche LA, Papaioannou VE, et al. Tbx4 and tbx5 acting in connective tissue are required for limb muscle and tendon patterning. Dev Cell. 2010; 18(1):148-56. Epub 2010/02/16. https://doi.org/10.1016/j.devcel.2009.11.013 PMID: 20152185.
92. Vickerman L, Neufeld S, Cobb J. Shox2 function couples neural, muscular and skeletal development in the proximal forelimb. Dev Biol. 2011; 350(2):323-36. Epub 2010/12/16. https://doi.org/10.1016/j.ydbio.2010.11.031 PMID: 21156168.

93. Stricker S, Mathia S, Haupt J, Seemann P, Meier J, Mundlos S. Odd-skipped related genes regulate differentiation of embryonic limb mesenchyme and bone marrow mesenchymal stromal cells. Stem Cells Dev. 2012; 21(4):623-33. Epub 2011/06/16. https://doi.org/10.1089/scd.2011.0154 PMID: 21671783.

94. Stricker S, Brieske N, Haupt J, Mundlos S. Comparative expression pattern of Odd-skipped related genes Osr1 and Osr2 in chick embryonic development. Gene Expr Patterns. 2006; 6(8):826-34. Epub 2006/03/24. https://doi.org/10.1016/j.modegp.2006.02.003 PMID: 16554187.

95. Vallecillo-Garcia P, Orgeur M, Vom Hofe-Schneider S, Stumm J, Kappert V, Ibrahim DM, et al. Odd skipped-related 1 identifies a population of embryonic fibro-adipogenic progenitors regulating myogenesis during limb development. Nat Commun. 2017; 8(1):1218. Epub 2017/11/01. https://doi.org/10.1038/s41467-017-01120-3 PMID: 29084951.

96. Uezumi A, Fukada S, Yamamoto N, Takeda S, Tsuchida K. Mesenchymal progenitors distinct from satellite cells contribute to ectopic fat cell formation in skeletal muscle. Nat Cell Biol. 2010; 12(2):143-52. Epub 2010/01/19. https://doi.org/10.1038/ncb2014 PMID: 20081842.

97. Joe AW, Yi L, Natarajan A, Le Grand F, So L, Wang J, et al. Muscle injury activates resident fibro/adipogenic progenitors that facilitate myogenesis. Nat Cell Biol. 2010; 12(2):153-63. Epub 2010/01/19. https://doi.org/10.1038/ncb2015 PMID: 20081841.

98. Contreras O, Rebolledo DL, Oyarzun JE, Olguin HC, Brandan E. Connective tissue cells expressing fibro/adipogenic progenitor markers increase under chronic damage: relevance in fibroblast-myofibroblast differentiation and skeletal muscle fibrosis. Cell Tissue Res. 2016; 364(3):647-60. Epub 2016/01/09. https://doi.org/10.1007/s00441-015-2343-0 PMID: 26742767.

99. Uezumi A, Ito T, Morikawa D, Shimizu N, Yoneda T, Segawa M, et al. Fibrosis and adipogenesis originate from a common mesenchymal progenitor in skeletal muscle. J Cell Sci. 2011; 124(Pt 21):3654-64. Epub 2011/11/03. https://doi.org/10.1242/jcs.086629 PMID: 22045730.

100. Hayashi S, Takeichi M. Emerging roles of protocadherins: from self-avoidance to enhancement of motility. J Cell Sci. 2015; 128(8):1455-64. Epub 2015/03/10. https://doi.org/10.1242/jcs.166306 PMID: 25749861.

101. Lefebvre JL, Kostadinov D, Chen WV, Maniatis T, Sanes JR. Protocadherins mediate dendritic self-avoidance in the mammalian nervous system. Nature. 2012; 488(7412):517-21. Epub 2012/07/31. https://doi.org/10.1038/nature11305 PMID: 22842903.

102. Madduri S, Papaloizos M, Gander B. Synergistic effect of GDNF and NGF on axonal branching and elongation in vitro. Neurosci Res. 2009; 65(1):88-97. Epub 2009/06/16. https://doi.org/10.1016/j.neures.2009.06.003 PMID: 19523996.

103. Yang X, Arber S, William C, Li L, Tanabe Y, Jessell TM, et al. Patterning of muscle acetylcholine receptor gene expression in the absence of motor innervation. Neuron. 2001; 30(2):399-410. PMID: 11395002.

104. Lin W, Burgess RW, Dominguez B, Pfaff SL, Sanes JR, Lee KF. Distinct roles of nerve and muscle in postsynaptic differentiation of the neuromuscular synapse. Nature. 2001; 410(6832):1057-64. https://doi.org/10.1038/35074025 PMID: 11323662.

105. Darabid H, Perez-Gonzalez AP, Robitaille R. Neuromuscular synaptogenesis: coordinating partners with multiple functions. Nat Rev Neurosci. 2014; 15(11):703-18. Epub 2014/12/11. PMID: 25493308.

106. James JM, Mukouyama YS. Neuronal action on the developing blood vessel pattern. Semin Cell Dev Biol. 2011; 22(9):1019-27. Epub 2011/10/08. https://doi.org/10.1016/j.semcdb.2011.09.010 PMID: 21978864.

107. Tawil R, van der Maarel SM, Tapscott SJ. Facioscapulohumeral dystrophy: the path to consensus on pathophysiology. Skelet Muscle. 2014; 4:12. Epub 2014/06/19. https://doi.org/10.1186/2044-5040-4-12 PMID: 24940479.

108. De Iaco A, Planet E, Coluccio A, Verp S, Duc J, Trono D. DUX-family transcription factors regulate zygotic genome activation in placental mammals. Nat Genet. 2017; 49(6):941-5. Epub 2017/05/02. https://doi.org/10.1038/ng.3858 PMID: 28459456.

109. Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camano P, Dauwerse JG, et al. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science. 2010; 329(5999):1650-3. Epub 2010/08/21. https://doi.org/10.1126/science.1189044 PMID: 20724583.

110. van der Maarel SM, Miller DG, Tawil R, Filippova GN, Tapscott SJ. Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation. Curr Opin Neurol. 2012; 25(5):614-20. Epub 2012/08/16. https://doi.org/10.1097/WCO.0b013e328357f22d PMID: 22892954.
111. Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet. 2012; 44(12):1370-4. https://doi.org/10.1038/ng.2454 PMID: 23143600.

112. van den Boogaard ML, Lemmers RJ, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, et al. Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy. Am J Hum Genet. 2016; 98(5):1020-9. Epub 2016/05/08. https://doi.org/10.1016/j.ajhg.2016.03.013 PMID: 27153398.

113. Banerji CR, Knopp P, Moyle LA, Severini S, Orrell RW, Teschendorff AE, et al. beta-Catenin is central to DUX4-driven network rewiring in facioscapulohumeral muscular dystrophy. J R Soc Interface. 2015; 12(102):20140797. Epub 2015/01/01. https://doi.org/10.1098/rsif.2014.0797 PMID: 25551153.

114. Geng LN, Yao Z, Snider L, Fong AP, Cech JN, Young JM, et al. DUX4 activates germline genes, retro-elements, and immune mediators: implications for facioscapulohumeral dystrophy. Dev Cell. 2012; 22(1):38-51. Epub 2012/01/03. https://doi.org/10.1016/j.devcel.2011.11.013 PMID: 22209328.

115. Wallace LM, Garwick SE, Mei W, Belayew A, Coppee F, Ladner KJ, et al. DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. Ann Neurol. 2011; 69(3):540-52. Epub 2011/03/30. https://doi.org/10.1002/ana.22275 PMID: 21446026.

116. Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, et al. Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. Am J Hum Genet. 2012; 90(4):628-35. Epub 2012/04/10. https://doi.org/10.1016/j.ajhg.2012.02.019 PMID: 22482803.

117. Scionti I, Fabbri G, Fiorillo C, Ricci G, Greco F, D'Amico R, et al. Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling. J Med Genet. 2012; 49(3):171-8. Epub 2012/01/06. https://doi.org/10.1136/jmedgenet-2011-100454 PMID: 22217918.

118. Puppo F, Dionnet E, Gaillard MC, Gaildrat P, Castro C, Vovan C, et al. Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype. Hum Mutat. 2015; 36(4):443-53. Epub 2015/01/24. https://doi.org/10.1002/humu.22760 PMID: 25615407.

119. Mariot V, Roche S, Hourde C, Portilho D, Sacconi S, Puppo F, et al. Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy. Ann Neurol. 2015; 78(3):387-400. Epub 2015/05/29. https://doi.org/10.1002/ana.24446 PMID: 26018399.

120. Ottaviani A, Rival-Gervier S, Boussouar A, Foerster AM, Rondier D, Sacconi S, et al. The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy. PLoS Genet. 2009; 5(2):e1000394. Epub 2009/02/28. https://doi.org/10.1371/journal.pgen.1000394 PMID: 19247430.

121. Park HJ, Lee W, Kim SH, Lee JH, Shin HY, Kim SM, et al. FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1. Yonsei Med J. 2018; 59(2):337-40. Epub 2018/02/13. https://doi.org/10.3349/ymj.2018.59.2.337 PMID: 29436205.

122. Robin JD, Ludlow AT, Batten K, Gaillard MC, Stadler G, Magdinier F, et al. SORBS2 transcription is activated by telomere position effect-over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy. Genome Res. 2015; 25(12):1781-90. Epub 2015/09/12. https://doi.org/10.1101/gr.190660.115 PMID: 26359233.

123. Jones T, Jones PL. A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy. PLoS ONE. 2018; 13(2):e0192657. Epub 2018/02/08. https://doi.org/10.1371/journal.pone.0192657 PMID: 29415061.

124. Bosnakovski D, Chan SSK, Recht OO, Hartweck LM, Gustafson CJ, Athman LL, et al. Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model. Nat Commun. 2017; 8 (1):550. Epub 2017/09/17. https://doi.org/10.1038/s41467-017-00730-1 PMID: 28916757.

125. Dandapat A, Bosnakovski D, Hartweck LM, Arpke RW, Baltgalvis KA, Vang D, et al. Dominant lethal pathologies in male mice engineered to contain an X-linked DUX4 transgene. Cell Rep. 2014; 8 (5):1484-96. Epub 2014/09/02. https://doi.org/10.1016/j.celrep.2014.07.056 PMID: 25176645.

126. Krom YD, Thijssen PE, Young JM, den Hamer B, Balog J, Yao Z, et al. Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD. PLoS Genet. 2013; 9(4): e1003415. Epub 2013/04/18. https://doi.org/10.1371/journal.pgen.1003415 PMID: 23593020.

127. Gonzalez-Navarro FF, Belanche-Munoz LA, Silva-Colon KA. Effective classification and gene expression profiling for the Facioscapulohumeral Muscular Dystrophy. PLoS ONE. 2013; 8(12):e82071. Epub 2013/12/19. https://doi.org/10.1371/journal.pone.0082071 PMID: 24349187.

128. Rahimov F, King OD, Leung DG, Bibat GM, Emerson CP Jr., Kunkel LM, et al. Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers. Proc Natl Acad Sci U S A. 2012; 109(40):16234-9. Epub 2012/09/19. https://doi.org/10.1073/pnas.1209508109 PMID: 22988124.
129. Moyle LA, Blanc E, Jaka O, Prueller J, Banerji CR, Tedesco FS, et al. Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy. Elife. 2016; 5. Epub 2016/11/15. https://doi.org/10.7554/eLife.11405 PMID: 27841748.

130. Leighton PA, Mitchell KJ, Goodrich LV, Lu X, Pinson K, Scherz P, et al. Defining brain wiring patterns and mechanisms through gene trapping in mice. Nature. 2001; 410(6825):174-9. Epub 2001/03/10. https://doi.org/10.1038/35065539 PMID: 11242070.

131. Rodriguez CI, Buchholz F, Galloway J, Sequerra R, Kasper J, Ayala R, et al. High-efficiency deleter mice show that FLPe is an alternative to Cre-loxP. Nat Genet. 2000; 25(2):139-40. Epub 2000/06/03. https://doi.org/10.1038/75973 PMID: 10835623.

132. Moore MW, Klein RD, Farinas I, Sauer H, Armanini M, Phillips H, et al. Renal and neuronal abnormalities in mice lacking GDNF. Nature. 1996; 382(6586):76-9. Epub 1996/07/04. https://doi.org/10.1038/382076a0 PMID: 8657308.

133. Wichterle H, Lieberam I, Porter JA, Jessell TM. Directed differentiation of embryonic stem cells into motor neurons. Cell. 2002; 110(3):385-97. Epub 2002/08/15. PMID: 12176325.