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TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.

Robert J Graham, Alan H Beggs, Barry J Byrne, Casie A Genetti, Emma S James, Francesco Muntoni, Imelda Hughes, Laurie B LaRusso, Michele L Yang, Mojtaba Noursalehi, Nancy L Kuntz, Rachel Alvarez, Sabrina W Yum, Salvador Rico, Suyash Prasad, Tmirah Haselkorn

Transforaminal Intrathecal Access for Injection of Nusinersen in Adult and Pediatric Patients with Spinal Muscular Atrophy

242nd ENMC International Workshop: Diagnosis and management of juvenile myasthenia gravis Hoofddorp, the Netherlands, 1–3 March 2019

Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement

Peter B. Kang, Charbel El Kosseifi, Hugh J. McMillan, Katharine E. Alter, Kevin F. Fitzpatrick, Nancy L. Kuntz, Susana Quijano-Roy, Tanya J. Lehky

Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

Pulsed glucocorticoids enhance dystrophic muscle performance through epigenetic-metabolic reprogramming

Mattia Quattrocelli, Aaron S. Zelikovich, Alexis R. Demonbreun, Clara Bien Peek, Elizabeth M. McNally, Grant D. Barish, Joseph Bass, Nancy L. Kuntz, Saptarsi M. Haldar, Zhen Jiang

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.

Darryl C. De Vivo, Alfred W. Sandrock, Christopher Stebbins, Douglas Kerr, Enrico Bertini, Francy Shu, Gabriel Braley, Haluk Topaloglu, Ishir Bhan, Janbernd Kirschner, John F. Staropoli, Julie A. Parsons, Kathryn J. Swoboda, Kristina Johnson, Marco Petrillo, Monique M. Ryan, Nancy L. Kuntz, Richard Foster, Richard S. Finkel, Russell J. Butterfield, Sandra P. Reyna, Sarah Gheuens, Stephanie Fradette, Tawfeg Ben-Omran, Thomas O. Crawford, Valeria A. Sansone, Wildon Farwell, Wuh-Liang Hwu, Yuh-Jyh Jong

Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy

Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function.

Eric P. Hoffman, Adrienne Arrieta, Andrea L. Smith, Avital Cnaan, Benjamin D. Schwartz, Catherine Siener, Craig M. McDonald, Diana Castro, Edward C. Smith, Heather Gordish-Dressman, Jean K. Mah, Jesse M. Damsker, John van den Anker, John M. McCall, Kanneboyina Nagaraju, Katharine Bushby, Laurel J. Mengle-Gaw, Lauren P. Morgenroth, Laurie S. Conklin, Mar Tulinius, Mark Jaros, Maya Shimony, Michela Guglieri, Monique M. Ryan, Nancy L. Kuntz, Paula R. Clemens, Phil Shale, Richard Webster, Richard S. Finkel, Yoram Nevo

Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy.

Anne M. Connolly, Alina Nicorici, Catherine A. Siener, Craig M. McDonald, Craig M. Zaidman, Jerry R. Mendell, Julaine M. Florence, Kevin M. Flanigan, Leslie L. Nelson, Linda B. Johnson, Linda P. Lowes, Lindsay N. Alfano, Mary M. Cradock, Nancy L. Kuntz, Pallavi Anand, Paul T. Golumbek, Richard S. Finkel, Susan T. Iannaccone

Moderate exercise improves function and increases adiponectin in the mdx mouse model of muscular dystrophy.

Aaron S. Zelikovich, Elizabeth M. McNally, Isabella M. Salamone, Mattia Quattrocelli, Nancy L. Kuntz