Results 91 to 100 of about 57,206 (164)

Elevated plasma complement components in facioscapulohumeral dystrophy. [PDF]

Hum Mol Genet, 2022
Wong CJ, Wang L, Holers VM, Frazer-Abel A, van der Maarel SM, Tawil R, Statland JM, Tapscott SJ, ReSolve Network.   +8 more
europepmc   +1 more source

Artificial Intelligence for Evaluation of Retinal Vasculopathy in Facioscapulohumeral Dystrophy Using OCT Angiography: A Case Series. [PDF]

Diagnostics (Basel), 2023
Maceroni M, Monforte M, Cariola R, Falsini B, Rizzo S, Savastano MC, Martelli F, Ricci E, Bortolani S, Tasca G, Minnella AM.   +10 more
europepmc   +1 more source

Natural History of Facioscapulohumeral Dystrophy in Children: A 2-Year Follow-up. [PDF]

Neurology, 2021
Dijkstra JN, Goselink RJM, van Alfen N, de Groot IJM, Pelsma M, van der Stoep N, Theelen T, van Engelen BGM, Voermans NC, Erasmus CE.   +9 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

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

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

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

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

Decreased nocturnal movements in patients with facioscapulohumeral muscular dystrophy

, 2010
Reduced mobility during sleep characterizes a variety of movement disorders and neuromuscular diseases. Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of muscular dystrophy in the general population, and people with FSHD have
Della Marca, Giacomo, Colicchio, Salvatore, Vollono, Catello, Scarano, Emanuele, Tonali, Pietro Attilio, Ricci, Enzo, Frusciante, Roberto, Dittoni, Serena, Testani, Elisa, Iannaccone, Elisabetta, Losurdo, Anna   +10 more
core  

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