Results 171 to 180 of about 5,041 (194)

Retinal abnormalities in FSHD

Neuromuscular Disorders, 2017
R. Goselink, C. van Kernebeek, V. Schreur, C. Erasmus, N. Voermans, T. Theelen, B. van Engelen   +6 more
openaire   +1 more source

Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD

Frontiers in Genetics, 2023
Eleonora Torchia, Luca Colantoni, Strafella Claudia   +2 more
exaly  

FSHD

2009
Robert J. Desnick, Orlando Guntinas-Lichius, George W. Padberg, Gustav Schonfeld, Xiaobo Lin, Maurizio Averna, Pin Yue, John-John B. Schnog, Victor E. A. Gerdes, Pedro R. Cutillas, Robert J. Unwin, Heike Schulze, Konrad Sandhoff, Jean-François Pellissier, Georges Serratrice, Dominique Figarella-Branger, Cord Sunderkötter, Marcelo Gustavo Binker, Laura Iris Cosen-Binker, Matthias Wettstein, Peter von den Driesch, Rima Nabbout, Massimo Mantegazza, Olivier Dulac, Johann Michael Schröder, Ho Sung Kang, Johann Michael Schröder, Marina Marchetti Hugo Ten Cate, Marina Marchetti, Hugo ten Cate, Lev I. Patrushev, Lee S. Weinstein, Adiba Isa, Fernando Azpiroz, Guang-Sheng Li, Ling Jing, Hui Xu, Anne M. Molloy, John M. Scott, Cord Sunderkötter, Axel Lorentz, Stephan C. Bischoff, Filippo Tamanini, Filippo Tamanini, Thomas Klockgether, Derek A. Wong, Jürgen Kopitz, Carolina von Reitzenstein, Michael Cantz   +48 more
openaire   +1 more source

FSHD / OPMD / EDMD / DMI

Neuromuscular Disorders, 2018
N. Saad, M. Al-Kharsan, S. Garwick-Coppens, N. Pyne, S. Harper   +4 more
  +4 more sources

The facioscapulohumeral muscular dystrophy Rasch‐built overall disability scale (FSHD‐RODS)

European Journal of Neurology, 2021
Karlien Mul, Tatiana Hamadeh, Corinne G C Horlings   +2 more
exaly  

The FSHD muscle–blood biomarker: a circulating transcriptomic biomarker for clinical severity in facioscapulohumeral muscular dystrophy

Brain Communications, 2023
Christopher R S Banerji, Anna Greco, Leo A B Joosten   +2 more
exaly  

Designed U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes

Molecular Therapy - Nucleic Acids, 2021
Afrooz Rashnonejad, Nicolas Wein, Scott Q Harper   +2 more
exaly  

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD

Human Mutation, 2009
Jessica C De Greef, Richard J L F Lemmers, Baziel G M Van Engelen   +2 more
exaly  

Myoblasts from affected and non‐affected FSHD muscles exhibit morphological differentiation defects

Journal of Cellular and Molecular Medicine, 2010
Gilles Carnac, Yegor S Vassetzky, Dalila Laoudj-Chenivesse   +2 more
exaly  

Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era

Neurogenetics, 2019
Stefania Zampatti, Luca Colantoni, Claudia Strafella   +2 more
exaly