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Results from a 36-Week Open-Label Study of Recombinant Human Growth Hormone and Testosterone in Facioscapulohumeral Muscular Dystrophy (FSHD)

Author:Heatwole, Chad   Luebbe, Elizabeth   Hamel, Johanna   Mongiovi, Philip   Ciafaloni, Emma   Dilek, Nuran   Martens, William   Weber, David   Hani, Rashid   Allen, Jamie   Smith, Claire   Howell, Samantha   Rosero, Spencer   Eichinger, Katy   Baker, Linday   Dekdebrun, Jeanne   Hilbert, Jim   Varma, Anika   McDermott, Michael   Thornton, Charles   Moxley, Richard   

Session Name:S48: Therapeutics for Muscle Disease  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:S48.009  

Author Institution:University of Rochester Medical Center, Rochester, NY  Children's Hospital of Philadelphia, Philadelphia, PA  University of Rochester Medical Center, Baltimore, MD  

Annualized Rates of Change from A Phase 2, Randomized, Double-Blind, Placebo-Controlled, 48-Week Study of Losmapimod in Subjects with FSHD: ReDUX4

Author:Tawil, Alrabi   

Session Name:S48: Therapeutics for Muscle Disease  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:S48.010  

Author Institution:University of Rochester Medical Center, Rochester, NY  

Deep Mutational Scanning and High-throughput Functional Testing to Resolve Variants of Unknown Significance in Sarcoglycanopathies

Author:Haller, Gabe   Li, Chengcheng   Weihl, Conrad   

Session Name:N4: Neuroscience in the Clinic: Bridging Genetics to the Clinic in Neuromuscular Disease  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:N4.001  

Author Institution:Washington University, St. Louis, MO  Washington University in St. Louis, St. Louis, MO  

Correlating Testing for Rare Genetic Variants with a Broad Clinicopathologic Spectrum of Congenital Myopathies

Author:Jayaraman, Divya   Genetti, Casie   Aykanat, Asli   Win, Wathone   Valivullah, Zaheer   O'Heir, Emily   Darras, Basil   Laine, Regina   O'Donnell-Luria, Anne   Beggs, Alan   

Session Name:N4: Neuroscience in the Clinic: Bridging Genetics to the Clinic in Neuromuscular Disease  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:N4.003  

Author Institution:Boston Children’s Hospital, Boston, MA  Broad Institute of MIT and Harvard, Boston, MA  Boston Children's Hospital, Boston, MA  Boston Children’s Hospital/Broad Institute of Harvard and MIT, Boston, MA  Boston Children's Hospital/Harvard Medical School, Boston, MA  

Extracellular RNA splice events in cerebrospinal fluid as candidate biomarkers of myotonic dystrophy type 1

Author:Kumari, Preeti   Hu, Ningyan   Sizemore, Alex   Sullivan, Lauren   Mckee, Brigham   Conquest, Parker   Wheeler, Thurman   

Session Name:N4: Neuroscience in the Clinic: Bridging Genetics to the Clinic in Neuromuscular Disease  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:N4.004  

Author Institution:Massachusetts General Hospital, Charlestown, MA