The Neurobiology of Childhood Spinal Muscular Atrophy by Thomas O. Crawford, Carlos A. Pardo

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The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases by Noam Auslander, Daniel M Ramos, Ivette Zelaya, Hiren Karathia, Thomas O. Crawford, Alejandro A Schäffer, Charlotte J Sumner, Eytan Ruppin

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Ataxia telangiectasia: a review by Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Thomas O. Crawford, Howard M. Lederman

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Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations by Michele A. Lloyd-Puryear, Thomas O. Crawford, Amy Brower, Kristin Stephenson, Tracy Trotter, Edward Goldman, Aaron Goldenberg, R. Rodney Howell, Annie Kennedy, Michael Watson

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TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function by Arens Taga, Margo A. Peyton, Benedikt Goretzki, Thomas Q. Gallagher, Ann Ritter, Amy Harper, Thomas O. Crawford, Ute A. Hellmich, Charlotte J. Sumner, Brett A. McCray

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Growth in ataxia telangiectasia by Valerie A. I. Natale, Tim J. Cole, Cynthia Rothblum-Oviatt, Jennifer Wright, Thomas O. Crawford, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Haley Schlechter, Howard M. Lederman

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Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study. by Thomas O Crawford, Sergey V Paushkin, Dione T Kobayashi, Suzanne J Forrest, Cynthia L Joyce, Richard S Finkel, Petra Kaufmann, Kathryn J Swoboda, Danilo Tiziano, Rosa Lomastro, Rebecca H Li, Felicia L Trachtenberg, Thomas Plasterer, Karen S Chen, Pilot Study of Biomarkers for Spinal Muscular Atrophy Trial Group

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SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy. by John T Kissel, Charles B Scott, Sandra P Reyna, Thomas O Crawford, Louise R Simard, Kristin J Krosschell, Gyula Acsadi, Bakri Elsheik, Mary K Schroth, Guy D'Anjou, Bernard LaSalle, Thomas W Prior, Susan Sorenson, Jo Anne Maczulski, Mark B Bromberg, Gary M Chan, Kathryn J Swoboda, Project Cure Spinal Muscular Atrophy Investigators' Network

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SMA-MAP: a plasma protein panel for spinal muscular atrophy. by Dione T Kobayashi, Jing Shi, Laurie Stephen, Karri L Ballard, Ruth Dewey, James Mapes, Brett Chung, Kathleen McCarthy, Kathryn J Swoboda, Thomas O Crawford, Rebecca Li, Thomas Plasterer, Cynthia Joyce, Biomarkers for Spinal Muscular Atrophy Study Group, Wendy K Chung, Petra Kaufmann, Basil T Darras, Richard S Finkel, Douglas M Sproule, William B Martens, Michael P McDermott, Darryl C De Vivo, Pediatric Neuromuscular Clinical Research Network, Michael G Walker, Karen S Chen

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