The publications listed below were supported by the FSH Society in the form of research fellowships and travel grants. We thank our many donors for providing the funding to advance our scientific and medical understanding of FSHD!
β-catenin is central to DUX4-driven network rewiring in facioscapulohumeral muscular dystrophy. Banerji CR, Knopp P, Moyle LA, Severini S, Orrell RW, Teschendorff AE, Zammit PS. J R Soc Interface. 2015 Jan 6;12(102):20140797.
Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy. Leung, D. G., Carrino, J. A., Wagner, K. R. and Jacobs, M. A. Muscle Nerve. 2015 Jan 16. doi: 10.1002/mus.24569.
Expression of FSHD-related DUX4-FL alters proteostasis and induces TDP-43 aggregation. Homma S, Beermann ML, Boyce FM, Miller JB. Ann Clin Transl Neurol. 2015 Feb;2(2):151-66. doi: 10.1002/acn3.158. Epub 2015 Jan 15.
miRNA expression in control and FSHD fetal human muscle biopsies. Portilho DM, Alves MR, Kratassiouk G, Roche S, Magdinier F, de Santana EC, Polesskaya A, Harel-Bellan A, Mouly V, Savino W, Butler-Browne G, Dumonceaux J. PLoS One. 2015 Feb 18;10(2):e0116853. doi: 10.1371/journal.pone.0116853. eCollection 2015.
Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies. Statland JM, Shah B, Henderson D, van der Maarel S, Tapscott SJ, Tawil R. Muscle Nerve. 2015 Feb 23. doi: 10.1002/mus.24621.
Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences. Ansseau E, Domire JS, Wallace LM, Eidahl JO, Guckes SM, Giesige CR, Pyne NK, Belayew A, Harper SQ. PLoS One. 2015 Mar 5;10(3):e0118813. doi: 10.1371/journal.pone.0118813. eCollection 2015.
Reachable workspace reflects dynamometer-measured upper extremity strength in FSHD. Han JJ, de Bie E, Nicorici A, Abresch RT, Bajcsy R, Kurillo G. Muscle Nerve. 2015 Mar 18. doi: 10.1002/mus.24651.
Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2. By van den Boogaard ML, Jfl Lemmers R, Camaño P, van der Vliet PJ, Voermans N, van Engelen BG, Lopez de Munain A, Tapscott SJ, van der Stoep N, Tawil R, van der Maarel SM. Eur J Hum Genet. 2015 Mar 18. doi: 10.1038/ejhg.2015.55.
Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy. Jones TI, King OD, Himeda CL, Homma S, Chen JC, Beermann ML, Yan C, Emerson CP Jr, Miller JB, Wagner KR, Jones PL. Clin Epigenetics. 2015 Mar 29;7(1):37. doi: 10.1186/s13148-015-0072-6.
Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy. Santos DB, Boussaid G, Stojkovic T, Orlikowski D, Letilly N, Behin A, Butel S, Lofaso F, Prigent H. Neuromuscul Disord. 2015 Apr 30. pii: S0960-8966(15)00149-2. doi: 10.1016/j.nmd.2015.04.011.
Emerging preclinical animal models for FSHD. Lek A, Rahimov F, Jones PL, Kunkel LM. Trends Mol Med. 2015 May;21(5):295-306. doi: 10.1016/j.molmed.2015.02.011.
Culture Conditions Affect Expression of DUX4 in FSHD Myoblasts. Pandey SN, Khawaja H, Chen YW. Molecules. 2015 May 8;20(5):8304-15. doi: 10.3390/molecules20058304.
Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy. Mariot V, Roche S, Hourdé C, Portilho D, Sacconi S, Puppo F, Duguez S, Rameau P, Caruso N, Delezoide AL, Desnuelle C, Bessières B, Collardeau S, Feasson L, Maisonobe T, Magdinier F, Helmbacher F, Butler-Browne G, Mouly V, Dumonceaux J. Ann Neurol. 2015 May 28. doi: 10.1002/ana.24446.
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