Results 51 to 60 of about 1,312 (124)

KLF18 is a necessary component of the DUX4-initiated transcriptional network and a candidate locus for phenotypic diversity. [PDF]

Genes Dev
Hamm DC, O'Donnell AB, Bennett SR, Lemmers RJLF, van der Vliet PJ, van der Maarel SM, Tapscott SJ.   +6 more
europepmc   +1 more source

Adaptive response to electrical pulse stimulation is impaired in FSHD myotubes by DUX4 gene network activation. [PDF]

Sci Rep
Kong X, Rajagopal A, Foust SR, Osorio J, Mortazavi A, Grosberg A, Yokomori K.   +6 more
europepmc   +1 more source

Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry. [PDF]

Orphanet J Rare Dis
Sanson B, Slioui A, Garcia J, Klouvi L, Lejeune J, Stalens C, Guien C, Rabarimeriarijaona S, Bernard R, Nectoux J, Attarian S, Bédat-Millet AL, Bouhour F, Boyer FC, Chanson JB, Choumert A, Cintas P, De La Cruz E, Féasson L, Fournier M, Ghorab K, Jacquin-Piques A, Laforêt P, Magot A, Michaud M, Noury JB, Solé G, Spinazzi M, Stojkovic T, Tard C, Villa L, Béroud C, Sacconi S, French FSHD registry collaboration group.   +33 more
europepmc   +1 more source

Optimising the molecular investigation of the FSHD locus: an integrated workflow using single molecule optical mapping and Southern blot analysis. [PDF]

J Med Genet
Jang J, Sung H, Lee JA, Cho SI, Lee JS, Seong MW.   +5 more
europepmc   +1 more source

Disease burden in Serbian patients with facioscapulohumeral muscular dystrophy. [PDF]

Front Neurol
Ralic B, Albano N, Viric V, Nuredini A, Azanjac AA, Rajic S, Marjanovic A, Tupler R, Heatwole C, Peric S.   +9 more
europepmc   +1 more source

Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy. [PDF]

Cell Death Dis
Ganassi M, Strafella C, Savarese M, Heher P, Engquist EN, McGuire L, Johari M, De Nicola GF, Bigot A, Mouly V, Bortolani S, Torchia E, Monforte M, Megalizzi D, Sabino A, Ricci E, Giardina E, Zammit PS, Tasca G.   +18 more
europepmc   +1 more source

DUX4-rearranged B-ALL: deciphering a biological and clinical conundrum. [PDF]

Leukemia
Bakewell J, Moorman AV, Ryan SL.
europepmc   +1 more source

Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features. [PDF]

Eur J Neurol
Torchia E, Vandeputte P, Monforte M, Gillet C, Verny C, Bernard R, Tasca G, Spinazzi M.   +7 more
europepmc   +1 more source

Targeted sequencing and iterative assembly of near-complete genomes. [PDF]

Nat Commun
Gamaarachchi H, Stevanovski I, Hammond JM, M Reis AL, Rapadas M, Jayasooriya K, Russell T, Yeow D, Hort Y, Patel C, Mallett AJ, Stackpoole E, Roman L, Silver LW, Hogg CJ, Streeting LM, Bogdanovic O, Coelho Rodrigues Noronha R, Santos do Nascimento LA, Lima Cardoso A, Georges A, Cheng H, Patel HR, Kumar KR, Mallawaarachchi AC, Deveson IW.   +25 more
europepmc   +1 more source

Facioscapulohumeral Dystrophy: Molecular Basis and Therapeutic Opportunities. [PDF]

Cold Spring Harb Perspect Biol
Arends T, Hamm DC, van der Maarel S, Tapscott SJ.   +3 more
europepmc   +1 more source