Guidelines for the diagnosis and management of aplastic anaemia
Marsh, Judith C. W., Ball, Sarah E., Cavenagh, Jamie, Darbyshire, Phil, Dokal, Inderjeet, Gordon‐Smith, Edward C., Keidan, Jane, Laurie, Andrew, Martin, Anna, Mercieca, Jane, Killick, Sally B., Stewart, Rhona, Yin, John A. L.
Published in British journal of haematology (01.10.2009)
Published in British journal of haematology (01.10.2009)
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Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study
Smith, Edward C., Conklin, Laurie S., Hoffman, Eric P., Clemens, Paula R., Mah, Jean K., Finkel, Richard S., Guglieri, Michela, Tulinius, Mar, Nevo, Yoram, Ryan, Monique M., Webster, Richard, Castro, Diana, Kuntz, Nancy L., Kerchner, Laurie, Morgenroth, Lauren P., Arrieta, Adrienne, Shimony, Maya, Jaros, Mark, Shale, Phil, Gordish-Dressman, Heather, Hagerty, Laura, Dang, Utkarsh J., Damsker, Jesse M., Schwartz, Benjamin D., Mengle-Gaw, Laurel J., McDonald, Craig M.
Published in PLoS medicine (01.09.2020)
Published in PLoS medicine (01.09.2020)
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Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1
Schoch, Kelly, McConkie-Rosell, Allyn, Walley, Nicole, Bhambhani, Vikas, Feyma, Timothy, Pizoli, Carolyn E, Smith, Edward C, Tan, Queenie K.-G, Shashi, Vandana
Published in Orphanet journal of rare diseases (04.09.2023)
Published in Orphanet journal of rare diseases (04.09.2023)
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Journal Article
Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best-worst scaling experiment in caregivers and adult patients
Paquin, Ryan S, Fischer, Ryan, Mansfield, Carol, Mange, Brennan, Beaverson, Katherine, Ganot, Annie, Martin, Amy Strong, Morris, Carl, Rensch, Colin, Ricotti, Valeria, Russo, Leo J, Sadosky, Alesia, Smith, Edward C, Peay, Holly L
Published in Orphanet journal of rare diseases (09.05.2019)
Published in Orphanet journal of rare diseases (09.05.2019)
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Journal Article
Age-Related Blood Levels of Creatine Kinase-MM in Newborns and Patients with Duchenne Muscular Dystrophy: Considerations for the Development of Newborn Screening Algorithms
Potter, Sarah Nelson, Migliore, Brooke, Carter, Javan, Copeland, Veronica R, Smith, Edward C, Peay, Holly L, Kucera, Katerina S
Published in International journal of neonatal screening (01.06.2024)
Published in International journal of neonatal screening (01.06.2024)
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Screening data from 19 patients with late‐onset Pompe disease for a phase I clinical trial of AAV8 vector‐mediated gene therapy
Hannah, William B., Case, Laura E., Smith, Edward C., Walters, Crista, Bali, Deeksha, Kishnani, Priya S., Koeberl, Dwight D.
Published in JIMD reports (01.09.2023)
Published in JIMD reports (01.09.2023)
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The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt
Cocanougher, Benjamin T., Liu, Samuel W., Francescatto, Ludmila, Behura, Alexander, Anneling, Mariele, Jackson, David G., Deak, Kristen L., Hornik, Chi D., ElMallah, Mai K., Pizoli, Carolyn E., Smith, Edward C., Tan, Khoon Ghee Queenie, McDonald, Marie T.
Published in HGG advances (18.07.2024)
Published in HGG advances (18.07.2024)
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Journal Article
Infectious causes of chronic immune thrombocytopenia
Stasi, Roberto, Willis, Fenella, Shannon, Muriel S, Gordon-Smith, Edward C
Published in Hematology/oncology clinics of North America (01.12.2009)
Published in Hematology/oncology clinics of North America (01.12.2009)
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Journal Article
Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy
Chamberlain, Reid C., MD, Smith, Edward C., MD, Campbell, Michael J., MD
Published in Pediatric neurology (01.11.2015)
Published in Pediatric neurology (01.11.2015)
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Journal Article
Patients’ and caregivers’ maximum acceptable risk of death for non‐curative gene therapy to treat Duchenne muscular dystrophy
Peay, Holly L., Fischer, Ryan, Mange, Brennan, Paquin, Ryan S., Smith, Edward C., Sadosky, Alesia, Russo, Leo, Ricotti, Valeria, Rensch, Colin, Morris, Carl, Martin, Amy Strong, Ganot, Annie, Beaverson, Katherine, Mansfield, Carol
Published in Molecular genetics & genomic medicine (01.05.2021)
Published in Molecular genetics & genomic medicine (01.05.2021)
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Journal Article
Synthesis and Activity of New Aryl- and Heteroaryl-Substituted Pyrazole Inhibitors of the Transforming Growth Factor-β Type I Receptor Kinase Domain
Sawyer, J. Scott, Anderson, Bryan D, Beight, Douglas W, Campbell, Robert M, Jones, Michael L, Herron, David K, Lampe, John W, McCowan, Jefferson R, McMillen, William T, Mort, Nicholas, Parsons, Stephen, Smith, Edward C. R, Vieth, Michal, Weir, Leonard C, Yan, Lei, Zhang, Faming, Yingling, Jonathan M
Published in Journal of medicinal chemistry (11.09.2003)
Published in Journal of medicinal chemistry (11.09.2003)
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Journal Article
Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A Phase 2 Randomized Clinical Trial
Clemens, Paula R, Rao, Vamshi K, Connolly, Anne M, Harper, Amy D, Mah, Jean K, Smith, Edward C, McDonald, Craig M, Zaidman, Craig M, Morgenroth, Lauren P, Osaki, Hironori, Satou, Youhei, Yamashita, Taishi, Hoffman, Eric P
Published in Archives of neurology (Chicago) (01.08.2020)
Published in Archives of neurology (Chicago) (01.08.2020)
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Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial
Day, John W, Finkel, Richard S, Chiriboga, Claudia A, Connolly, Anne M, Crawford, Thomas O, Darras, Basil T, Iannaccone, Susan T, Kuntz, Nancy L, Peña, Loren D M, Shieh, Perry B, Smith, Edward C, Kwon, Jennifer M, Zaidman, Craig M, Schultz, Meredith, Feltner, Douglas E, Tauscher-Wisniewski, Sitra, Ouyang, Haojun, Chand, Deepa H, Sproule, Douglas M, Macek, Thomas A, Mendell, Jerry R
Published in Lancet neurology (01.04.2021)
Published in Lancet neurology (01.04.2021)
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Hybrid carbon nanotube - carbon fiber composites for high damping
Kim, Jeffrey J., Brown, Avery D., Bakis, Charles E., Smith, Edward C.
Published in Composites science and technology (03.05.2021)
Published in Composites science and technology (03.05.2021)
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A pilot study of antithymocyte globulin (ATG) in the treatment of patients with ‘low‐risk’ myelodysplasia
Killick, Sally B., Mufti, Ghulam, Cavenagh, Jamie D., Mijovic, Alex, Peacock, Janet L., Gordon‐Smith, Edward C., Bowen, David T., Marsh, Judith C. W.
Published in British journal of haematology (01.02.2003)
Published in British journal of haematology (01.02.2003)
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Journal Article
Profoundly lower muscle mass and rate of contractile protein synthesis in boys with Duchenne muscular dystrophy
Evans, William J., Shankaran, Mahalakshmi, Smith, Edward C., Morris, Carl, Nyangau, Edna, Bizieff, Alec, Matthews, Marcy, Mohamed, Hussein, Hellerstein, Marc
Published in The Journal of physiology (01.12.2021)
Published in The Journal of physiology (01.12.2021)
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Journal Article
The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID‐19 pandemic
Veerapandiyan, Aravindhan, Wagner, Kathryn R., Apkon, Susan, McDonald, Craig M., Mathews, Katherine D., Parsons, Julie A., Wong, Brenda L., Eichinger, Katy, Shieh, Perry B., Butterfield, Russell J., Rao, Vamshi K., Smith, Edward C., Proud, Crystal M., Connolly, Anne M., Ciafaloni, Emma
Published in Muscle & Nerve (01.07.2020)
Published in Muscle & Nerve (01.07.2020)
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Web Resource
Ischemic Stroke Because of Intracranial Fibromuscular Dysplasia
Shea, Kenneth J., MD, Hoang, Jenny K., MBBS, Smith, Edward C., MD
Published in Pediatric neurology (01.03.2011)
Published in Pediatric neurology (01.03.2011)
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