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Retrospective Assessment of Equitable Inclusion of Subjects in The National Institute of Neurological Disorders and Stroke Clinical Studies

Author:Zahid, Manahel   Norato, Gina   Martin, Sandra   Reoma, Lauren   

Session Name:S14: Health Care Disparities  

Topic:Health Care Disparities  

Program Number:S14.003  

Author Institution:NINDS/NIH, Bethesda, MD  

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  

A Novel COL11A1 Variant in a Child with Neuromuscular Findings: Expanding the Genotypic and Phenotypic Spectrum of COL11A1-related Disease

Author:McAnally, Meghan   Potticary, Abigail   Donkervoort, Sandra   Hu, Ying   Pais, Lynn   Huryn, Laryssa   Foley, A. Reghan   Bonnemann, Carsten   

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

Topic:Child Neurology and Developmental Neurology  

Program Number:P4.003  

Author Institution:NINDS/NIH, Bethesda, MD  Broad Institute of MIT and Harvard, Cambridge, MA  NEI/NIH, Bethesda, MD