Humanizing the mdx mouse model of DMD: the long and the short of it

por Yucel, Nora, Chang, Alex C., Day, John W., Rosenthal, Nadia, Blau, Helen M.
Publicado 2018

Charcot Marie Tooth disease type 4J with complex central nervous system features

por Orengo, James P., Khemani, Pravin, Day, John W., Li, Jun, Siskind, Carly E.
Publicado 2018

Author Correction: Humanizing the mdx mouse model of DMD: the long and the short of it

por Yucel, Nora, Chang, Alex C., Day, John W., Rosenthal, Nadia, Blau, Helen M.
Publicado 2020

Advances and limitations for the treatment of spinal muscular atrophy

por Day, John W., Howell, Kelly, Place, Amy, Long, Kimberly, Rossello, Jose, Kertesz, Nathalie, Nomikos, George
Publicado 2022

Adeno-associated virus serotype 9 antibody seroprevalence for patients in the United States with spinal muscular atrophy

por Day, John W., Mendell, Jerry R., Burghes, Arthur H.M., van Olden, Rudolf W., Adhikary, Rishi R., Dilly, Keith W.
Publicado 2023

Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec

por Day, John W., Finkel, Richard S., Mercuri, Eugenio, Swoboda, Kathryn J., Menier, Melissa, van Olden, Rudolf, Tauscher-Wisniewski, Sitra, Mendell, Jerry R.
Publicado 2021

Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy

por Sullivan, Jeremy M., Zimanyi, Christina M., Aisenberg, William, Bears, Breanne, Chen, Dong-Hui, Day, John W., Bird, Thomas D., Siskind, Carly E., Gaudet, Rachelle, Sumner, Charlotte J.
Publicado 2015

Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy

por Day, John W., Mendell, Jerry R., Mercuri, Eugenio, Finkel, Richard S., Strauss, Kevin A., Kleyn, Aaron, Tauscher-Wisniewski, Sitra, Tukov, Francis Fonyuy, Reyna, Sandra P., Chand, Deepa H.
Publicado 2021

Correction to: Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy

por Day, John W., Mendell, Jerry R., Mercuri, Eugenio, Finkel, Richard S., Strauss, Kevin A., Kleyn, Aaron, Tauscher-Wisniewski, Sitra, Tukov, Francis Fonyuy, Reyna, Sandra P., Chand, Deepa H.
Publicado 2021

Transcriptome alterations in myotonic dystrophy frontal cortex

por Otero, Brittney A., Poukalov, Kiril, Hildebrandt, Ryan P., Thornton, Charles A., Jinnai, Kenji, Fujimura, Harutoshi, Kimura, Takashi, Hagerman, Katharine A., Sampson, Jacinda B., Day, John W., Wang, Eric T.
Publicado 2021

SNP Haplotype Mapping in a Small ALS Family

por Krueger, Katherine A. Dick, Tsuji, Shoji, Fukuda, Yoko, Takahashi, Yuji, Goto, Jun, Mitsui, Jun, Ishiura, Hiroyuki, Dalton, Joline C., Miller, Michael B., Day, John W., Ranum, Laura P. W.
Publicado 2009

Role of Telomere Dysfunction in Cardiac Failure in Duchenne Muscular Dystrophy

por Mourkioti, Foteini, Kustan, Jackie, Kraft, Peggy, Day, John W., Zhao, Ming-Ming, Kost-Alimova, Maria, Protopopov, Alexei, DePinho, Ronald A., Bernstein, Daniel, Meeker, Alan K., Blau, Helen M.
Publicado 2013

Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy

por Beaudin, Marie, Kamali, Tahereh, Tang, Whitney, Hagerman, Katharine A., Dunaway Young, Sally, Ghiglieri, Lisa, Parker, Dana M., Lehallier, Benoit, Tesi-Rocha, Carolina, Sampson, Jacinda B., Duong, Tina, Day, John W.
Publicado 2023

Scientific rationale for a higher dose of nusinersen

por Finkel, Richard S., Ryan, Monique M., Pascual Pascual, Samuel Ignacio, Day, John W., Mercuri, Eugenio, De Vivo, Darryl C., Foster, Richard, Montes, Jacqueline, Gurgel‐Giannetti, Juliana, MacCannell, Drew, Berger, Zdenek
Publicado 2022

Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function †

por Dunaway Young, Sally, Montes, Jacqueline, Glanzman, Allan M., Gee, Richard, Day, John W., Finkel, Richard S., Darras, Basil T., De Vivo, Darryl C., Gambino, Giulia, Foster, Richard, Wong, Janice, Garafalo, Steve, Berger, Zdenek
Publicado 2023

DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results

por Finkel, Richard S., Day, John W., Pascual Pascual, Samuel Ignacio, Ryan, Monique M., Mercuri, Eugenio, De Vivo, Darryl C., Montes, Jacqueline, Gurgel-Giannetti, Juliana, Monine, Michael, Gambino, Giulia, Makepeace, Corinne, Foster, Richard, Berger, Zdenek
Publicado 2023

Migration and transformation of coastal wetlands in response to rising seas

por Osland, Michael J., Chivoiu, Bogdan, Enwright, Nicholas M., Thorne, Karen M., Guntenspergen, Glenn R., Grace, James B., Dale, Leah L., Brooks, William, Herold, Nate, Day, John W., Sklar, Fred H., Swarzenzki, Christopher M.
Publicado 2022

Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

por Glascock, Jacqueline, Sampson, Jacinda, Connolly, Anne M., Darras, Basil T., Day, John W., Finkel, Richard, Howell, R. Rodney, Klinger, Katherine W., Kuntz, Nancy, Prior, Thomas, Shieh, Perry B., Crawford, Thomas O., Kerr, Douglas, Jarecki, Jill
Publicado 2020

Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes

por Dunaway Young, Sally, Pasternak, Amy, Duong, Tina, McGrattan, Katlyn E., Stranberg, Sarah, Maczek, Elizabeth, Dias, Courtney, Tang, Whitney, Parker, Dana, Levine, Alexis, Rohan, Alyssa, Wolford, Connie, Martens, William, McDermott, Michael P., Darras, Basil T., Day, John W.
Publicado 2023

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort

por Duong, Tina, Kishnani, Priya S., An Haack, Kristina, Foster, Meredith C., Gibson, James B., Wilson, Catherine, Hahn, Si Houn, Hillman, Richard, Kronn, David, Leslie, Nancy D., Peña, Loren D.M., Sparks, Susan E., Stockton, David W., Tanpaiboon, Pranoot, Day, John W.
Publicado 2022