Search Results - "Day, John W."

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study by 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

“…Summary Background Nusinersen is a 2′- O -methoxyethyl phosphorothioate-modified antisense drug being developed to treat spinal muscular atrophy. Nusinersen is…”
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Restoration of the Mississippi Delta: Lessons from Hurricanes Katrina and Rita by Day, John W. Jr, Boesch, Donald F, Clairain, Ellis J, Kemp, G. Paul, Laska, Shirley B, Mitsch, William J, Orth, Kenneth, Mashriqui, Hassan, Reed, Denise J, Shabman, Leonard, Simenstad, Charles A, Streever, Bill J, Twilley, Robert R, Watson, Chester C, Wells, John T, Whigham, Dennis F

“…Hurricanes Katrina and Rita showed the vulnerability of coastal communities and how human activities that caused deterioration of the Mississippi Deltaic Plain…”
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Revised upper limb module for spinal muscular atrophy: Development of a new module by Mazzone, Elena S., Mayhew, Anna, Montes, Jacqueline, Ramsey, Danielle, Fanelli, Lavinia, Young, Sally Dunaway, Salazar, Rachel, De Sanctis, Roberto, Pasternak, Amy, Glanzman, Allan, Coratti, Giorgia, Civitello, Matthew, Forcina, Nicola, Gee, Richard, Duong, Tina, Pane, Marika, Scoto, Mariacristina, Pera, Maria Carmela, Messina, Sonia, Tennekoon, Gihan, Day, John W., Darras, Basil T., Vivo, Darryl C., Finkel, Richard, Muntoni, Francesco, Mercuri, Eugenio

“…ABSTRACT Introduction There is a growing need for a robust clinical measure to assess upper limb motor function in spinal muscular atrophy (SMA), as the…”
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Advances and limitations for the treatment of spinal muscular atrophy by Day, John W, Howell, Kelly, Place, Amy, Long, Kimberly, Rossello, Jose, Kertesz, Nathalie, Nomikos, George

“…Spinal muscular atrophy (5q-SMA; SMA), a genetic neuromuscular condition affecting spinal motor neurons, is caused by defects in both copies of the SMN1 gene…”
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MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain by Goodwin, Marianne, Mohan, Apoorva, Batra, Ranjan, Lee, Kuang-Yung, Charizanis, Konstantinos, Gómez, Francisco José Fernández, Eddarkaoui, Sabiha, Sergeant, Nicolas, Buée, Luc, Kimura, Takashi, Clark, H. Brent, Dalton, Joline, Takamura, Kenji, Weyn-Vanhentenryck, Sebastien M., Zhang, Chaolin, Reid, Tammy, Ranum, Laura P.W., Day, John W., Swanson, Maurice S.

“…For some neurological disorders, disease is primarily RNA mediated due to expression of non-coding microsatellite expansion RNAs (RNAexp). Toxicity is thought…”
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Ambulatory function in spinal muscular atrophy: Age-related patterns of progression by 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

“…Individuals with spinal muscular atrophy (SMA) type 3 are able to walk but they have weakness, gait impairments and fatigue. Our primary study objective was to…”
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Coastal Wetland Resilience, Accelerated Sea‐Level Rise, and the Importance of Timescale by Törnqvist, Torbjörn E., Cahoon, Donald R., Morris, James T., Day, John W.

“…Recent studies have produced conflicting results as to whether coastal wetlands can keep up with present‐day and future sea‐level rise. The stratigraphic…”
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Transcriptome alterations in myotonic dystrophy frontal cortex by 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.

“…Myotonic dystrophy (DM) is caused by expanded CTG/CCTG repeats, causing symptoms in skeletal muscle, heart, and central nervous system (CNS). CNS issues are…”
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LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy by Flanigan, Kevin M., Ceco, Ermelinda, Lamar, Kay-Marie, Kaminoh, Yuuki, Dunn, Diane M., Mendell, Jerry R., King, Wendy M., Pestronk, Alan, Florence, Julaine M., Mathews, Katherine D., Finkel, Richard S., Swoboda, Kathryn J., Gappmaier, Eduard, Howard, Michael T., Day, John W., McDonald, Craig, McNally, Elizabeth M., Weiss, Robert B.

“…Objective Duchenne muscular dystrophy (DMD) displays a clinical range that is not fully explained by the primary DMD mutations. Ltbp4, encoding latent…”
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rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences by Sellier, Chantal, Cerro-Herreros, Estefanía, Blatter, Markus, Freyermuth, Fernande, Gaucherot, Angeline, Ruffenach, Frank, Sarkar, Partha, Puymirat, Jack, Udd, Bjarne, Day, John W., Meola, Giovanni, Bassez, Guillaume, Fujimura, Harutoshi, Takahashi, Masanori P., Schoser, Benedikt, Furling, Denis, Artero, Ruben, Allain, Frédéric H. T., Llamusi, Beatriz, Charlet-Berguerand, Nicolas

“…Myotonic dystrophy type 1 and type 2 (DM1, DM2) are caused by expansions of CTG and CCTG repeats, respectively. RNAs containing expanded CUG or CCUG repeats…”
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Role of telomere dysfunction in cardiac failure in Duchenne muscular dystrophy by 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.

“…Duchenne muscular dystrophy (DMD), the most common inherited muscular dystrophy of childhood, leads to death due to cardiorespiratory failure. Paradoxically,…”
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Vegetation death and rapid loss of surface elevation in two contrasting Mississippi delta salt marshes: The role of sedimentation, autocompaction and sea-level rise by Day, John W., Kemp, G. Paul, Reed, Denise J., Cahoon, Donald R., Boumans, Roelof M., Suhayda, Joseph M., Gambrell, Robert

“…From 1990 to 2004, we carried out a study on accretionary dynamics and wetland loss in salt marshes surrounding two small ponds in the Mississippi delta; Old…”
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Life Cycle of Oil and Gas Fields in the Mississippi River Delta: A Review by Day, John, Clark, H., Chang, Chandong, Hunter, Rachael, Norman, Charles

“…Oil and gas (O&G) activity has been pervasive in the Mississippi River Delta (MRD). Here we review the life cycle of O&G fields in the MRD focusing on the…”
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Long-term assimilation wetlands in coastal Louisiana: Review of monitoring data and management by Day, John W., Hunter, Rachael G., Lane, Robert R., Shaffer, Gary P., Day, Jason N.

“…•Wetlands with fresh water inflow had higher accretion rates than areas no inflow.•Wetlands with fresh water inflow had higher productivity than areas with no…”
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Generation of two induced pluripotent stem cell lines from Duchenne muscular dystrophy patients by Liu, Wenqiang, Zeng, Wenshu, Kong, Xiaohui, Htet, Min, Yu, Rebecca, Wheeler, Matthew, Day, John W., Wu, Joseph C.

“…Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder that leads to death in early adulthood. Patients with DMD have null mutations leading to…”
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Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8 by Ranum, Laura P W, Moseley, Melinda L, Zu, Tao, Ikeda, Yoshio, Gao, Wangcai, Mosemiller, Anne K, Daughters, Randy S, Chen, Gang, Weatherspoon, Marcy R, Clark, H Brent, Ebner, Timothy J, Day, John W

“…We previously reported that a (CTG)n expansion causes spinocerebellar ataxia type 8 (SCA8), a slowly progressive ataxia with reduced penetrance. We now report…”
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Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec by Day, John W., Finkel, Richard S., Mercuri, Eugenio, Swoboda, Kathryn J., Menier, Melissa, van Olden, Rudolf, Tauscher-Wisniewski, Sitra, Mendell, Jerry R.

“…Spinal muscular atrophy is a progressive, recessively inherited monogenic neurologic disease, the genetic root cause of which is the absence of a functional…”
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Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene by Zeng, Wenshu, Kong, Xiaohui, Alamana, Christina, Liu, Yu, Guzman, Jessica, Pang, Paul D., Day, John W., Wu, Joseph C.

“…Spinal muscular atrophy (SMA) is a severe neurodegenerative muscular disease caused by the homozygous loss of survival of motor neuron 1 (SMN1) genes. SMA…”
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Assessing Multi-Hazard Vulnerability and Dynamic Coastal Flood Risk in the Mississippi Delta: The Global Delta Risk Index as a Social-Ecological Systems Approach by Anderson, Carl, Renaud, Fabrice, Hagenlocher, Michael, Day, John

“…The tight coupling of the social-ecological system (SES) of the Mississippi Delta calls for balanced natural hazard vulnerability and risk assessments. Most…”
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Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study by Crawford, Thomas O, Day, John W, De Vivo, Darryl C, Krueger, Jena M, Mercuri, Eugenio, Nascimento, Andres, Pasternak, Amy, Mazzone, Elena Stacy, Duong, Tina, Song, Guochen, Marantz, Jing L, Baver, Scott, Yu, Dongzi, Liu, Lan, Darras, Basil T

“…At 12 months in the phase 2 TOPAZ study, treatment with apitegromab was associated with both an improved motor function in patients with Type 2 or 3 spinal…”
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