Results 161 to 170 of about 9,445 (236)

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients [PDF]

, 2017
Mutations in the filamin C gene (FLNC) cause a myofibrillar myopathy (MFM), morphologically characterized by focal myofibrillar destruction and abnormal accumulation of several proteins within skeletal muscle fibres.
Brodherr, Turgut, Bruchertseifer, Vera, Eger, Katharina, Fischer, Dirk, Fürst, Dieter O., Germing, Alfried, Hellenbroich, Yorck, Heyer, Christoph M., Huebner, Angela, Ketelsen, Uwe-Peter, Kirschner, Janbernd, Kley, Rudolf A., Lochmüller, Hanns, Müller, Klaus, Peters, Sören A., Reum, Conny, Schröder, Rolf, Tolksdorf, Karen, van der Ven, Peter F. M., Vorgerd, Matthias, Walter, Maggie C.   +20 more
core  

Biphasic Myopathic Phenotype of Mouse DUX, an ORF within Conserved FSHD-Related Repeats

, 2009
Darko Bosnakovski, Randy S. Daughters, Zhaohui Xu, Jonathan Slack, Michael Kyba   +4 more
openalex   +2 more sources

265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22–24 April 2022, Hoofddorp, The Netherlands

Neuromuscular Disorders, 2022
M. Monforte, S. Attarian, J. Vissing, J. Díaz-Manera, G. Tasca, R. Badiani, D. Bendahan, P. Carlier, R. Carlier, O. Leinhard, R. Fernández-Torrón, Teresa Gerhalter, L. Heskamp, H. Kan, D. Leung, A. Martins-Bach, Kisten Meiburger, A. Pichiecchio, M. Rataj, S. Sacconi, F. Santini, N. Alfen, S. Vincenten, N. Voermans   +23 more
semanticscholar   +1 more source

DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis [PDF]

, 2023
Maayan Salton, Eden Engal, Aveksha Sharma, Nadeen Taqatqa, Mercedes Bentata, Shiri Jaffe‐Herman, Ophir Geminder, Reyut Lewis, Marc Gotkine, Rachel Eiges, Vincent Mouly, Yotam Drier   +11 more
openalex   +1 more source

Increased FSHD region gene1 expression reduces in vitro cell migration, invasion, and angiogenesis, ex vivo supported by reduced expression in tumors [PDF]

, 2017
Ankit Tiwari, Niharika Pattnaik, Archita Jaiswal, Manjusha Dixit   +3 more
openalex   +1 more source

Adding quantitative muscle MRI to the FSHD clinical trial toolbox [PDF]

, 2017
Karlien Mul, Sanne C. C. Vincenten, Nicol C. Voermans, Richard J.L.F. Lemmers, Patrick J. van der Vliet, Silvère M. van der Maarel, George W. Padberg, Corinne G.C. Horlings, Baziel G.M. van Engelen   +8 more
openalex   +1 more source

The changed transcriptome of muscular dystrophy and inflammatory myopathy : contributions of non-coding RNAs to muscle damage and recovery [PDF]

, 2019
De Paepe, Boel
core   +1 more source

Reliability and validity of the FSHD-composite outcome measure in childhood facioscapulohumeral dystrophy

, 2021
Katy de Valle, Fiona Dobson, Ian Woodcock, Kate Carroll, Monique M. Ryan, Chad Heatwole, Katy Eichinger, Jennifer L. McGinley   +7 more
openalex   +2 more sources

Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study [PDF]

, 2019
Samantha LoRusso, Nicholas E. Johnson, Michael McDermott, Katy Eichinger, Russell J. Butterfield, Elena Carraro, Kiley Higgs, Leann Lewis, Karlien Mul, Sabrina Sacconi, Valeria Sansone, Perry B. Shieh, Baziel G.M. van Engelen, Kathryn R. Wagner, Leo Wang, Jeffrey Statland, Rabi Tawil   +16 more
openalex   +1 more source

Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD

, 2013
Yvonne D. Krom, Peter Thijssen, Janet M. Young, Bianca den Hamer, Judit Balog, Zizhen Yao, Lisa Maves, Lauren Snider, Paul Knopp, Peter S. Zammit, Tonnie Rijkers, Baziel G.M. van Engelen, George W. Padberg, Rune R. Frants, Rabi Tawil, Stephen J. Tapscott, Silvère M. van der Maarel   +16 more
openalex   +2 more sources