Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
Finkel, Richard S, Dr, Chiriboga, Claudia A, MD, Vajsar, Jiri, MD, Day, John W, MD, Montes, Jacqueline, EdD, De Vivo, Darryl C, MD, Yamashita, Mason, MD, Rigo, Frank, PhD, Hung, Gene, MD, Schneider, Eugene, MD, Norris, Daniel A, PhD, Xia, Shuting, MS, Bennett, C Frank, PhD, Bishop, Kathie M, PhD
Published in The Lancet (British edition) (17.12.2016)
Published in The Lancet (British edition) (17.12.2016)
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Journal Article
Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy
Finkel, Richard S, Flanigan, Kevin M, Wong, Brenda, Bönnemann, Carsten, Sampson, Jacinda, Sweeney, H Lee, Reha, Allen, Northcutt, Valerie J, Elfring, Gary, Barth, Jay, Peltz, Stuart W
Published in PloS one (11.12.2013)
Published in PloS one (11.12.2013)
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Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
De Vivo, Darryl C., Bertini, Enrico, Swoboda, Kathryn J., Hwu, Wuh-Liang, Crawford, Thomas O., Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Parsons, Julie A., Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben-Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh-Jyh, Shu, Francy, Staropoli, John F., Kerr, Douglas, Sandrock, Alfred W., Stebbins, Christopher, Petrillo, Marco, Braley, Gabriel, Johnson, Kristina, Foster, Richard, Gheuens, Sarah, Bhan, Ishir, Reyna, Sandra P., Fradette, Stephanie, Farwell, Wildon
Published in Neuromuscular disorders : NMD (01.11.2019)
Published in Neuromuscular disorders : NMD (01.11.2019)
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Journal Article
Spinal muscular atrophy
Mercuri, Eugenio, Sumner, Charlotte J, Muntoni, Francesco, Darras, Basil T, Finkel, Richard S
Published in Nature reviews. Disease primers (04.08.2022)
Published in Nature reviews. Disease primers (04.08.2022)
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Journal Article
Ambulatory function in spinal muscular atrophy: Age-related patterns of progression
Montes, Jacqueline, McDermott, Michael P, Mirek, Elizabeth, Mazzone, Elena S, Main, Marion, Glanzman, Allan M, Duong, Tina, Young, Sally Dunaway, Salazar, Rachel, Pasternak, Amy, Gee, Richard, De Sanctis, Roberto, Coratti, Giorgia, Forcina, Nicola, Fanelli, Lavinia, Ramsey, Danielle, Milev, Evelin, Civitello, Matthew, Pane, Marika, Pera, Maria Carmela, Scoto, Mariacristina, Day, John W, Tennekoon, Gihan, Finkel, Richard S, Darras, Basil T, Muntoni, Francesco, De Vivo, Darryl C, Mercuri, Eugenio
Published in PloS one (26.06.2018)
Published in PloS one (26.06.2018)
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Journal Article
Observational study of spinal muscular atrophy type I and implications for clinical trials
Finkel, Richard S, McDermott, Michael P, Kaufmann, Petra, Darras, Basil T, Chung, Wendy K, Sproule, Douglas M, Kang, Peter B, Foley, A Reghan, Yang, Michelle L, Martens, William B, Oskoui, Maryam, Glanzman, Allan M, Flickinger, Jean, Montes, Jacqueline, Dunaway, Sally, O'Hagen, Jessica, Quigley, Janet, Riley, Susan, Benton, Maryjane, Ryan, Patricia A, Montgomery, Megan, Marra, Jonathan, Gooch, Clifton, De Vivo, Darryl C
Published in Neurology (26.08.2014)
Published in Neurology (26.08.2014)
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Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study
Crawford, Thomas O, Paushkin, Sergey V, Kobayashi, Dione T, Forrest, Suzanne J, Joyce, Cynthia L, Finkel, Richard S, Kaufmann, Petra, Swoboda, Kathryn J, Tiziano, Danilo, Lomastro, Rosa, Li, Rebecca H, Trachtenberg, Felicia L, Plasterer, Thomas, Chen, Karen S
Published in PloS one (27.04.2012)
Published in PloS one (27.04.2012)
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Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial
Strauss, Kevin A, Farrar, Michelle A, Muntoni, Francesco, Saito, Kayoko, Mendell, Jerry R, Servais, Laurent, McMillan, Hugh J, Finkel, Richard S, Swoboda, Kathryn J, Kwon, Jennifer M, Zaidman, Craig M, Chiriboga, Claudia A, Iannaccone, Susan T, Krueger, Jena M, Parsons, Julie A, Shieh, Perry B, Kavanagh, Sarah, Tauscher-Wisniewski, Sitra, McGill, Bryan E, Macek, Thomas A
Published in Nature medicine (01.07.2022)
Published in Nature medicine (01.07.2022)
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Web Resource
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
Strauss, Kevin A, Farrar, Michelle A, Muntoni, Francesco, Saito, Kayoko, Mendell, Jerry R, Servais, Laurent, McMillan, Hugh J, Finkel, Richard S, Swoboda, Kathryn J, Kwon, Jennifer M, Zaidman, Craig M, Chiriboga, Claudia A, Iannaccone, Susan T, Krueger, Jena M, Parsons, Julie A, Shieh, Perry B, Kavanagh, Sarah, Wigderson, Melissa, Tauscher-Wisniewski, Sitra, McGill, Bryan E, Macek, Thomas A
Published in Nature medicine (01.07.2022)
Published in Nature medicine (01.07.2022)
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Web Resource
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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209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands
Finkel, Richard, Bertini, Enrico, Muntoni, Francesco, Mercuri, Eugenio
Published in Neuromuscular disorders : NMD (01.07.2015)
Published in Neuromuscular disorders : NMD (01.07.2015)
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Conference Proceeding
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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An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials
Darras, Basil T., Farrar, Michelle A., Mercuri, Eugenio, Finkel, Richard S., Foster, Richard, Hughes, Steven G., Bhan, Ishir, Farwell, Wildon, Gheuens, Sarah
Published in CNS drugs (01.09.2019)
Published in CNS drugs (01.09.2019)
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Journal Article
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management
Bushby, Katharine, MD, Finkel, Richard, MD, Birnkrant, David J, MD, Case, Laura E, DPT, Clemens, Paula R, MD, Cripe, Linda, MD, Kaul, Ajay, MD, Kinnett, Kathi, MSN, McDonald, Craig, MD, Pandya, Shree, PT, Poysky, James, PhD, Shapiro, Frederic, MD, Tomezsko, Jean, PhD, Constantin, Carolyn, PhD
Published in Lancet neurology (2010)
Published in Lancet neurology (2010)
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