Results 111 to 120 of about 3,762 (173)

Bioimpedance analysis of fat free mass and its subcomponents and relative associations with maximal oxygen consumption in facioscapulohumeral dystrophy. [PDF]

Eur J Appl Physiol
Crisafulli O, Bottoni G, Lacetera J, Fassio F, Grattarola L, Lavaselli E, Giovanetti G, Tupler R, Negro M, D'Antona G.   +9 more
europepmc   +1 more source

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy. [PDF]

Brain
Lemmers RJLF, Butterfield R, van der Vliet PJ, de Bleecker JL, van der Pol L, Dunn DM, Erasmus CE, D'Hooghe M, Verhoeven K, Balog J, Bigot A, van Engelen B, Statland J, Bugiardini E, van der Stoep N, Evangelista T, Marini-Bettolo C, van den Bergh P, Tawil R, Voermans NC, Vissing J, Weiss RB, van der Maarel SM.   +22 more
europepmc   +1 more source

Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function. [PDF]

Antioxidants (Basel)
Moriggi M, Ruggiero L, Torretta E, Zoppi D, Arosio B, Ferri E, Castegna A, Fiorillo C, Gelfi C, Capitanio D.   +9 more
europepmc   +1 more source

Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression. [PDF]

Hum Mol Genet
Wong CJ, Friedman SD, Snider L, Bennett SR, Jones TI, Jones PL, Shaw DWW, Blemker SS, Riem L, DuCharme O, Lemmers RJFL, van der Maarel SM, Wang LH, Tawil R, Statland JM, Tapscott SJ.   +15 more
europepmc   +1 more source

Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism. [PDF]

Neurol Genet, 2019
Roche S, Dion C, Broucqsault N, Laberthonnière C, Gaillard MC, Robin JD, Lagarde A, Puppo F, Vovan C, Chaix C, Campana ES, Attarian S, Bartoli M, Bernard R, Nguyen K, Magdinier F.   +15 more
europepmc   +1 more source

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study. [PDF]

Ann Neurol, 2018
Goselink RJM, Schreuder THA, van Alfen N, de Groot IJM, Jansen M, Lemmers RJLF, van der Vliet PJ, van der Stoep N, Theelen T, Voermans NC, van der Maarel SM, van Engelen BGM, Erasmus CE.   +12 more
europepmc   +1 more source

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy. [PDF]

J Med Genet, 2018
Balog J, Goossens R, Lemmers RJLF, Straasheijm KR, van der Vliet PJ, Heuvel AVD, Cambieri C, Capet N, Feasson L, Manel V, Contet J, Kriek M, Donlin-Smith CM, Ruivenkamp CAL, Heard P, Tapscott SJ, Cody JD, Tawil R, Sacconi S, van der Maarel SM.   +19 more
europepmc   +1 more source

Facioscapulohumeral dystrophy: activating an early embryonic transcriptional program in human skeletal muscle. [PDF]

Hum Mol Genet, 2018
Campbell AE, Belleville AE, Resnick R, Shadle SC, Tapscott SJ.   +4 more
europepmc   +1 more source

Poly-hill Sign In Facioscapulohumeral Dystrophy

Annals of Indian Academy of Neurology, 2003
Pradhan S, Gandhi Sanjay
doaj  

Targeting the Polyadenylation Signal of Pre-mRNA: A New Gene Silencing Approach for Facioscapulohumeral Dystrophy. [PDF]

Int J Mol Sci, 2018
Marsollier AC, Joubert R, Mariot V, Dumonceaux J.   +3 more
europepmc   +1 more source