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The Disease Course of Untreated Patients with Thymidine Kinase 2 Deficiency (TK2d) Aged >12 Years at TK2d Symptom Onset: Findings from the Largest International TK2d Dataset

Author:Domínguez-González, Cristina   Nascimento Osorio, Andrés   Ma, Yuanjun   Boudiaf, Nada   Kim, Richard   VanMeter, Susan   Brunnert, Marcus   Hirano, Michio   

Session Name:P2: Neuromuscular and Clinical Neurophysiology (EMG): Genetic Myopathies  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:P2.020  

Author Institution:Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain  Neuromuscular Diseases Unit, Neurology Department, Hospital Universitario 12 de Octubre, Madrid, Spain  Research Institute Hospital Universitario 12 de Octubre (i+12), Madrid, Spain, Madrid, Spain  UCB, Morrisville, NC, USA, Rtp, NC  Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA, New York, NY  

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Effectiveness of Ataluren in Patients with nmDMD: Confirmatory Evidence from the STRIDE Registry

Author:Werner, Christian   Mercuri, Eugenio   Buccella, Filippo   Nascimento Osorio, Andrés   Tulinius, Már   Desguerre, Isabelle   Dutra de Resende, Maria Bernadete   McDonald, Craig   Gordish-Dressman, Heather   Morgenroth, Lauren   Johnson, Shelley   Krolick, Alexis   Anbu, Balaji   L,   

Session Name:P7: Child Neurology and Developmental Neurology: Neuromuscular 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P7.008  

Author Institution:PTC Therapeutics Germany GmbH, Frankfurt, Germany  Catholic University, Rome, Italy  Parent Project APS Italy, Rome, Italy  Unidad de Patología Neuromuscular, Hospital Sant Joan de Déu, Universidad de Barcelona, Barcelona, Spain  Queen Silvia Children’s Hospital, University of Gothenburg, Gothenburg, Sweden  Hôpital Necker – Enfants Malades, Paris, France  University of São Paulo, São Paulo, Brazil  University of California Davis School of Medicine, Davis, CA  Children's National Health System and the George Washington, Washington DC, WA  Therapeutic Research in Neuromuscular Disorders Solutions (TRiNDS), Pittsburgh, PA  PTC Therapeutics Inc., Warren, NJ  University College London Great Ormond Street Institute of Child Health, London, United Kingdom  

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The Disease Course of Untreated Patients with Thymidine Kinase 2 Deficiency (TK2d) Aged =12 Years at TK2d Symptom Onset: Findings from the Largest International TK2d Dataset

Author:Hirano, Michio   Nascimento Osorio, Andrés   Ma, Yuanjun   Boudiaf, Nada   Kim, Richard   VanMeter, Susan   Brunnert, Marcus   Domínguez-González, Cristina   

Session Name:P10: Child Neurology and Developmental Neurology: Neurogenetics 2  

Topic:Child Neurology and Developmental Neurology  

Program Number:P10.007  

Author Institution:Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA, New York, NY  Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain  Neuromuscular Diseases Unit, Neurology Department, Hospital Universitario 12 de Octubre, Madrid, Spain  Research Institute Hospital Universitario 12 de Octubre (i+12), Madrid, Spain, Madrid, Spain  

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