All Supporting Literature

February 1, 2019

MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD

Leo H Wang, Seth D Friedman, Dennis Shaw, Lauren Snider, Chao-Jen Wong, Chris B Budech Sandra L Poliachik, Nancy E Gove, Leann M Lewis, Amy E Campbell, Richard J F L Lemmers, Silvère M Maarel, Stephen J Tapscott, Rabi N Tawil. Human Molecular Genetics (2019).

August 1, 2018

Facioscapulohumeral dystrophy: activating an early embryonic transcriptional program in human skeletal muscle

Amy E. Campbell, Andrea E. Belleville, Rebecca Resnick, Sean C. Shadle, Stephen J. Tapscott. Human Molecular Genetics (2018).

November 14, 2017

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

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, and Baziel G.M. van Engelen. Neurology (2017).

March 1, 2017

MRI as outcome measure in facioscapulohumeral muscular dystrophy: 1-year follow-up of 45 patients

Grete Andersen, Julia R. Dahlqvist, Christoffer R. Vissing, Karen Heje, Carsten Thomsen, John Vissing. Journal of Neurology (2017).

February 1, 2016

Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures

Rabi Tawil, George W. Padberg, Dennis W. Shaw, Silvère M. van der Maarel, Stephen J. Tapscott, The FSHD Workshop Participants. Neuromuscular Disorders (2016).

October 15, 2015

Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy

Jane E. Hewitt. Human Molecular Genetics (2015).

July 28, 2015

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy

Rabi Tawil, John T. Kissel, Chad Heatwole, Shree Pandya, Gary Gronseth, Michael Benatar. Neurology (2015).

February 1, 2015

Reachable Workspace in Facioscapulohumeral muscular dystrophy (FSHD) by Kinect

Jay J. Han, Gregorij Kurillo, Richard T. Abresch, Evan de Bie, Alina Nicorici, and Ruzena Bajcsy. Muscle & Nerve (2015).

September 16, 2014

Population-based incidence and prevalence of facioscapulohumeral dystrophy

Johanna C.W. Deenen, Hisse Arnts, Silvère M. van der Maarel, George W. Padberg, Jan J.G.M. Verschuuren, Egbert Bakker, Stephanie S. Weinreich, André L.M. Verbeek, Baziel G.M. van Engelen. Neurology (2014).

January 17, 2012

DUX4 activates germline genes, retroelements, and immune mediators: Implications for facioscapulohumeral dystrophy

Linda N. Geng, Zizhen Yao, Lauren Snider, Abraham P. Fong, Jennifer N. Cech, Janet M. Young, Silvere M. van der Maarel. Developmental Cell (2012).