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Pre-clinical Antisense Oligonucleotide Treatment of CMT2E in a Human Induced Pluripotent Stem Cell (iPSC)-derived Motor Neuron Model

Author:Medina, Jessica   Rebelo, Adriana   Jacobs, Elizabeth   Danzi, Matt   Zuchner, Stephan   Saporta, Mario   

Session Name:S5: ALS and CMT: New Therapeutic Approaches  

Topic:Neuromuscular and Clinical Neurophysiology (EMG)  

Program Number:S5.008  

Author Institution:University of Miami, MIAMI, FL  University of Miami School of Medicine, Miami, FL  

Mechanisms of Neurodegeneration and Mini-gene Therapeutic Approach for Charcot-Marie-Tooth Disease Type 4B3

Author:Jacobs, Elizabeth   Danzi, Matt   Rebelo, Adriana   Zuchner, Stephan   Saporta, Mario   

Session Name:S37: Emerging Therapies in Child Neurology  

Topic:Child Neurology and Developmental Neurology  

Program Number:S37.007  

Author Institution:University of Miami Miller School of Medicine, Miami, FL  

Childhood Onset Amyotrophic Lateral Sclerosis Associated with SPTLC2 Gain-of-Function Pathogenic Variants: Clinical, Genetic, and Biochemical Insights

Author:Orbach, Rotem   Syeda, Safoora   Mohassel, Payam   Dohrn, Maike   Lone, Museer A.   Donkervoort, Sandra   Foley, A. Reghan   Beijer, Danique   Bayraktar, Elif   Oflazer, Piraye   Munot, Pinki   Rose, Aubrey   Lyons, Michael   Louie, Raymond   Gable, Kenneth   Franca, Marcondes C.   Galarza-Brito, Juan E.   Eckenweiler, Matthias   Asamoah, Alexander   Majumdar, Anirban   Shieh, Perry   Schumann, Anke   Gupta, Sita D.   Lakhotia, Arpita   Jackson, Kelly   Chao, Kathrine R.   Winder, Thomas   Catapano, Francesco   Feng, Lucy   Kirschner, Janbernd   Chen, Sitong   Danzi, Matt   Synofzik, Matthis   Muntoni, Francesco   Basak, A. Nazli   Dunn, Teresa M.   Hornemann, Thorsten   Zuchner, Stephan   Bonnemann, Carsten   

Session Name:P4: Child Neurology and Developmental Neurology: Pediatric Neuromuscular  

Topic:Child Neurology and Developmental Neurology  

Program Number:P4.001  

Author Institution:NINDS/NIH, Bethesda, MD  University of Miami, MIAMI, FL  Institute of Clinical Chemistry, University of Zurich, Zurich, Switzerland  Koç University, Istanbul, Turkey  UCL Institute of Child Health, London, United Kingdom  Greenwood Genetic Center, Greenwood, SC  Uniformed Services University of Health Sciences, Bethesda, MD  University of Campinas, Sao Paulo, Brazil  Hospital Pablo Arturo Suarez, Quito, Ecuador  University of Freiburg, Freiburg, Germany  University of Louisville, Louisville, KY  Bristol Children's Hospital, Bristol, United Kingdom  University of California Los Angeles, Los Angeles, CA  University of Louisville/Norton Children Medical Group, Louisville, KY  Broad Institute of MIT and Harvard, Cambridge, MA  Invitae Corp., Marshfield, WI  Hertie-Institute for Clinical Brain Research, Tubingen, Germany  

GAA-FGF14 Disease: Defining Its Frequency, Molecular Basis, and 4-aminopyridine Response in a Large Cohort of Patients with Downbeat Nystagmus

Author:Pellerin, David   Heindl, Felix   Wilke, Carlo   Danzi, Matt   Traschutz, Andreas   Ashton, Catherine   Dicaire, Marie-Josee   Cuillerier, Alexanne   Del Gobbo, Giulia   Boycott, Kym   Claassen, Jens   Rujescu, Dan   Hartmann, Annette   Zuchner, Stephan   Brais, Bernard   Strupp, Michael   Synofzik, Matthis   

Session Name:P6: Movement Disorders: Ataxias 1  

Topic:Movement Disorders  

Program Number:P6.013  

Author Institution:McGill University, Montreal, QC, Canada  Ludwig-Maximilians University, Munich, Germany  University of Tübingen, Tübingen, Germany  University of Miami School of Medicine, Miami, FL  Royal Perth Hospital, Perth, Australia  Children’s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada  University Duisburg-Essen, Essen, Germany  Medical University of Vienna, Dept. Psychiatry and Psychotherapy, Vienna, Austria  Medical University of Vienna, Vienna, Germany  University of Tübingen, Tubingen, Germany