Results 131 to 140 of about 1,867 (154)

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

Frontiers in Genetics, 2023
Eleonora Torchia, Cascella Raffaella, Giardina Emiliano   +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 FSHD muscle–blood biomarker: a circulating transcriptomic biomarker for clinical severity in facioscapulohumeral muscular dystrophy

Brain Communications, 2023
Leo Joosten, Peter Zammit, Engelen B
exaly  

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

European Journal of Neurology, 2021
Karlien Mul, Engelen B, Sabrina Sacconi   +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
Scott Harper, Afrooz Rashnonejad, Wein N   +2 more
exaly  

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

Human Mutation, 2009
Silvere Van Der Maarel, Engelen B, Sabrina Sacconi   +2 more
exaly  

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

Neurogenetics, 2019
Raffaella Cascella, Emiliano Giardina, Valerio Caputo   +2 more
exaly  

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

Journal of Cellular and Molecular Medicine, 2010
Yegor Vassetzky
exaly  

DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?

Journal of Cellular and Molecular Medicine, 2013
Alexandra Belayew, Alexandra Tassin, Frédérique Coppée   +2 more
exaly