Results 191 to 200 of about 8,309 (264)

Bilateral foot drop as presenting feature of facioscapulohumeral muscular dystrophy type 1. [PDF]

eNeurologicalSci
Krenn M, Vetchy V, Kasprian G, Grisold W.   +3 more
europepmc   +1 more source

SIX transcription factors are necessary for the activation of DUX4 expression in facioscapulohumeral muscular dystrophy. [PDF]

Skelet Muscle
Fox A, Oliva J, Vangipurapu R, Sverdrup FM.   +3 more
europepmc   +1 more source

Corrigendum to “Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations”

, 2016
Kohei Hamanaka, Kanako Goto, Mami Arai, Koji Nagao, Chikashi Obuse, S. Noguchi, Yukiko Hayashi, Satomi Mitsuhashi, Ichizo Nishino   +8 more
openalex   +1 more source

Proteomic Profiling Uncovers Sexual Dimorphism in the Muscle Response to Wheel Running Exercise in the FLExDUX4 Murine Model of Facioscapulohumeral Muscular Dystrophy. [PDF]

Mol Cell Proteomics
Nishimura Y, Bittel A, Jagan A, Chen YW, Burniston J.   +4 more
europepmc   +1 more source

Author response: Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy

, 2016
Louise A. Moyle, Eric Blanc, Oihane Jaka, Johanna Prueller, Christopher R. S. Banerji, Francesco Saverio Tedesco, Stephen D. R. Harridge, Robert Knight, Peter S. Zammit   +8 more
openalex   +1 more source

Texture analysis and machine learning to predict water T2 and fat fraction from non-quantitative MRI of thigh muscles in Facioscapulohumeral muscular dystrophy

, 2020
Paolo Florent Felisaz, Giulia Colelli, Elena Ballante, Francesca Solazzo, Matteo Paoletti, Giancarlo Germani, Francesco Santini, Xeni Deligianni, Niels Bergsland, Mauro Monforte, Giorgio Tasca, Enzo Ricci, Stefano Bastianello, Silvia Figini, Anna Pichiecchio   +14 more
openalex   +1 more source

Temporal variation in p38-mediated regulation of DUX4 in facioscapulohumeral muscular dystrophy. [PDF]

Sci Rep
Vangipurapu R, Oliva J, Fox A, Sverdrup FM.   +3 more
europepmc   +1 more source

Epigenetics in facioscapulohumeral muscular dystrophy (FSHD) [PDF]

Human Mutation, 2009
openaire   +3 more sources

Respiratory function and evaluation in individuals with facioscapulohumeral muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network. [PDF]

Neuromuscul Disord
Mathews KD, Suhl J, Conway KM, Moore A, Alese JT, Butterfield RJ, Romitti PA, Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet).   +8 more
europepmc   +1 more source

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement [PDF]

, 1996
Becker, A.E. (Anton), Bouwsma, G. (G.), Busch, H.F.M. (Herman), Kooj, A.J. (Anneke), Ledderhof, T.M. (T.), Res, J. (Jan), Troost, D. (Dirk), Visser, M. (Marianne) de, Voogt, W.G. (W.) de   +8 more
core   +1 more source