Results 141 to 150 of about 9,445 (236)

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? [PDF]

, 2011
Mark Richards, Frédérique Coppée, Nick Thomas, Alexandra Belayew, Meena Upadhyaya   +4 more
openalex   +1 more source

Quantitative Three-dimensional Scanning of Facial Movements in Facioscapulohumeral Dystrophy

Neurological Sciences and Neurophysiology
Background: Facioscapulohumeral dystrophy (FSHD) is the third prevalent neuromuscular disorder, particularly with facial and upper limb involvement. Due to its characteristics, quantitative assessment of facial function is challenging but essential for ...
Ceren Hangul, Umut Ozsoy, Arzu Hizay, Sibel Berker Karauzum, Elizabeta Sauer, Mehmet Ziya Firat, Hilmi Uysal   +6 more
doaj   +1 more source

If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD) [PDF]

, 2011
James E. Hilbert, John T. Kissel, Elizabeth Luebbe, William B. Martens, Michael McDermott, Donald B. Sanders, Rabi Tawil, Charles A. Thornton, Richard T. Moxley   +8 more
openalex   +1 more source

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 [PDF]

, 2012
Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek, Judit Balog, Gregory J. Block, Gijs W.E. Santen, Amanda M. Amell, Patrick J. van der Vliet, Rowida Almomani, Kirsten R. Straasheijm, Yvonne D. Krom, Rinse Klooster, Yu Sun, Johan T. den Dunnen, Quinta Helmer, Colleen M. Donlin‐Smith, George W. Padberg, Baziel G.M. van Engelen, Jessica C. de Greef, Annemieke Aartsma‐Rus, Rune R. Frants, Marjolein Visser, Claude Desnuelle, Sabrina Sacconi, Galina N. Filippova, Egbert Bakker, Michael J. Bamshad, Stephen J. Tapscott, Daniel G. Miller, Silvère M. van der Maarel   +29 more
openalex   +1 more source

Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD [PDF]

, 2012
Judit Balog, Peter Thijssen, Jessica C. de Greef, Bharati Shah, Baziel G.M. van Engelen, Kyoko Yokomori, Stephen J. Tapscott, Rabi Tawil, Silvère M. van der Maarel   +8 more
openalex   +1 more source

268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials

Neuromuscular Disorders, 2023
F. Montagnese, K. de Valle, R. Lemmers, K. Mul, J. Dumonceaux, N. Voermans   +5 more
semanticscholar   +1 more source

Fibroblast cell line with inducible cassette exchange system- tool to study gain and loss of gene function [PDF]

, 2012
We generated fibroblast cell line with single copy of targeting Cre/Lox cassette exchange. The cassette is targeted with circular plasmid P2lox/cre caring the gene of interest.
Bosnakovski, Darko
core  

Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells [PDF]

, 2013
Gregory J. Block, Divya Narayanan, Amanda M. Amell, Lisa M. Petek, Kathryn C. Davidson, Thomas D. Bird, Rabi Tawil, Randall T. Moon, Daniel G. Miller   +8 more
openalex   +1 more source

MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy

Cell Reports, 2023
V. Runfola, Roberto Giambruno, C. Caronni, Maria Pannese, A. Andolfo, D. Gabellini   +5 more
semanticscholar   +1 more source

Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation

, 2003
Sara T. Winokur
openalex   +1 more source