Results 81 to 90 of about 3,762 (173)

In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype. [PDF]

Nucleic Acids Res, 2023
Laberthonnière C, Delourme M, Chevalier R, Dion C, Ganne B, Hirst D, Caron L, Perrin P, Adélaïde J, Chaffanet M, Xue S, Nguyen K, Reversade B, Déjardin J, Baudot A, Robin JD, Magdinier F.   +16 more
europepmc   +1 more source

A systemically deliverable lipid-conjugated siRNA targeting DUX4 as an facioscapulohumeral muscular dystrophy therapeutic

Molecular Therapy: Methods & Clinical Development
Facioscapulohumeral muscular dystrophy (FSHD) is the third most diagnosed muscular dystrophy. The disease is caused by genetic and epigenetic disruptions that result in misexpression of the germline transcription factor DUX4 in skeletal muscle, leading ...
Katelyn Daman, Jing Yan, Annabelle Biscans, Dimas Echeverria, Taisia Shmushkovich, Alexey Wolfson, Julia F. Alterman, Anastasia Khvorova, Charles P. Emerson, Jr.   +8 more
doaj   +1 more source

Objective Monitoring of Facioscapulohumeral Dystrophy During Clinical Trials Using a Smartphone App and Wearables: Observational Study. [PDF]

JMIR Form Res, 2022
Maleki G, Zhuparris A, Koopmans I, Doll RJ, Voet N, Cohen A, van Brummelen E, Groeneveld GJ, De Maeyer J.   +8 more
europepmc   +1 more source

Transcriptomic gene signatures measure satellite cell activity in muscular dystrophies

iScience
Summary: The routine need for myonuclear turnover in skeletal muscle, together with more sporadic demands for hypertrophy and repair, are performed by resident muscle stem cells called satellite cells.
Elise N. Engquist, Anna Greco, Leo A.B. Joosten, Baziel G.M. van Engelen, Christopher R.S. Banerji, Peter S. Zammit   +5 more
doaj   +1 more source

CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis. [PDF]

Neurology, 2021
Rieken A, Bossler AD, Mathews KD, Moore SA.   +3 more
europepmc   +1 more source

RIPK3-mediated cell death is involved in DUX4-mediated toxicity in facioscapulohumeral dystrophy. [PDF]

J Cachexia Sarcopenia Muscle, 2021
Mariot V, Joubert R, Le Gall L, Sidlauskaite E, Hourde C, Duddy W, Voit T, Bencze M, Dumonceaux J.   +8 more
europepmc   +1 more source

A pilot study of a single intermittent arm cycling exercise programme on people affected by Facioscapulohumeral dystrophy (FSHD). [PDF]

PLoS One, 2022
Philp F, Kulshrestha R, Emery N, Arkesteijn M, Pandyan A, Willis T.   +5 more
europepmc   +1 more source

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy. [PDF]

Orphanet J Rare Dis, 2022
Sanson B, Stalens C, Guien C, Villa L, Eng C, Rabarimeriarijaona S, Bernard R, Cintas P, Solé G, Tiffreau V, Echaniz-Laguna A, Magot A, Juntas Morales R, Boyer FC, Nadaj-Pakleza A, Jacquin-Piques A, Béroud C, Sacconi S, French FSHD registry collaboration group.   +18 more
europepmc   +1 more source

Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells-derived innervated muscle fibres. [PDF]

J Cachexia Sarcopenia Muscle, 2022
Laberthonnière C, Novoa-Del-Toro EM, Delourme M, Chevalier R, Broucqsault N, Mazaleyrat K, Streichenberger N, Manel V, Bernard R, Salort Campana E, Attarian S, Nguyen K, Robin JD, Baudot A, Magdinier F.   +14 more
europepmc   +1 more source

Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers. [PDF]

Sci Rep, 2022
van den Heuvel A, Lassche S, Mul K, Greco A, San León Granado D, Heerschap A, Küsters B, Tapscott SJ, Voermans NC, van Engelen BGM, van der Maarel SM.   +10 more
europepmc   +1 more source