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A Case of DYNC1H1-related Disorder with Klinefelter Syndrome

Author:LaRosa, Rachel   Wruck, Clara   Kumar, Ashutosh   Wright, ShaEssa   Yelton, Melissa   Aliu, Ermal   Paul, Dustin   

Session Name:P2: Neuromuscular and Clinical Neurophysiology (EMG): Spinal Muscular Atrophy and Hereditary Neuropathies  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P2.018  

Author Institution:Penn State Health Medical Center, Hershey, PA  Penn State Pediatric Neurology, Hershey, PA  

Overlapping Neuropathies: Unraveling a Rare Triad of CMT, CIDP, and Renal Implications

Author:Moura, Carolina   Pupe, Camila   Machado, Flavia   Azevedo, Helen   Campos, Leticia   Santos, Jonadab   Nascimento, Osvaldo   

Session Name:P2: Neuromuscular and Clinical Neurophysiology (EMG): Spinal Muscular Atrophy and Hereditary Neuropathies  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P2.019  

Author Institution:Universidade Federal Fluminense, Niterói, Brazil  Universidade Federal Fluminense, Rio De Janeiro, Brazil  HUAP, Niterói, Brazil  Univeresidade Federal Fluminense, niteroi, Brazil  Universidade de Pernambuco, Recife, Brazil  Mount Sinai, New York, NJ  Fluminense Federal University, Rio De Janeiro, Brazil  

Bariatric Surgery as a Potential Trigger for Worsening HSP

Author:Hsu, Rebecca   Ilieva, Hristelina   

Session Name:P2: Neuromuscular and Clinical Neurophysiology (EMG): Spinal Muscular Atrophy and Hereditary Neuropathies  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P2.020  

Author Institution:Thomas Jefferson University, Department of Neurology, Philadelphia, PA  ALS Weinberg Clinic, Philadelphia, PA  

JAG2 Variant Cloning: Evaluation of a Muscular Dystrophy Gene and a Potential Model System

Author:Turner, Johnnie   Littel, Hannah   Gunasekaran, Mekala   Kang, Peter   

Session Name:P3: Neuromuscular and Clinical Neurophysiology (EMG): Genetic Muscle Diseases  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P3.001  

Author Institution:University of Minnesota Medical School, Minneapolis, MN  

Ataluren Slows the Decline of Muscle Function in Patents with nmDMD: A Meta-analysis of Three Randomized, Double-blind, Placebo-controlled Trials

Author:Jong, Yuh-Jyh   Karachunski, Peter   Statland, Jeffrey   Lorentzos, Michelle   Cairns, Anita   Takeshima, Yasuhiro   Haginoya, Kazuhiro   Penematsa, Vinay   Chou, Connie   Williams, Paula   Werner, Christian   

Session Name:P3: Neuromuscular and Clinical Neurophysiology (EMG): Genetic Muscle Diseases  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P3.002  

Author Institution:Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan  University of Minnesota, Minneapolis, MN  University of Kansas Medical Center, Kansas City, KS  The Children's Hospital at Westmead, Westmead, Australia  Queensland Chlidren's Hospital, South Brisbane, Australia  Hyogo Medical University, Nishinomya, Japan  Miyagi Children'S Hospital, Sendai, Japan  PTC Therapeutics, Inc, South Plainfield, NJ  PTC Therapeutics, Inc., South Plainfield, NJ