Search Results - "Martin, Ann S"

Chart validation of an algorithm for identifying hereditary progressive muscular dystrophy in healthcare claims by Chen, Xiaoxue, Agiro, Abiy, Martin, Ann S, Lucas, Ann M, Haynes, Kevin

“…Muscular dystrophies (MDs) are a group of inherited conditions characterized by progressive muscle degeneration and weakness. The rarity and heterogeneity of…”
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Web-Based Mindfulness-Based Interventions for Well-being: Randomized Comparative Effectiveness Trial by Sylvia, Louisa G, Lunn, Mitchell R, Obedin-Maliver, Juno, McBurney, Robert N, Nowell, W Benjamin, Nosheny, Rachel L, Mularski, Richard A, Long, Millie D, Merkel, Peter A, Pletcher, Mark J, Tovey, Roberta E, Scalchunes, Christopher, Sutphen, Rebecca, Martin, Ann S, Horn, Elizabeth J, O'Boyle, Megan, Pitch, Lisa, Seid, Michael, Redline, Susan, Greenebaum, Sophie, George, Nevita, French, Noah J, Faria, Caylin M, Puvanich, Nicha, Rabideau, Dustin J, Selvaggi, Caitlin A, Yu, Chu, Faraone, Stephen V, Venkatachalam, Shilpa, McCall, Debbe, Terry, Sharon F, Deckersbach, Thilo, Nierenberg, Andrew A

“…Background Mindfulness can improve overall well-being by training individuals to focus on the present moment without judging their thoughts. However, it is…”
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The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations by Bladen, Catherine L., Salgado, David, Monges, Soledad, Foncuberta, Maria E., Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna J., Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lahdetie, Jaana, Walter, Maggie C., Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Kimura, En, Koeks, Zaïda, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Zimowski, Janusz, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Jeannet, Pierre-Yves, Joncourt, Franziska, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A. Ayşe, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly L., Bellgard, Matthew I., Kirschner, Jan, Flanigan, Kevin M., Straub, Volker, Bushby, Kate, Verschuuren, Jan, Aartsma-Rus, Annemieke, Béroud, Christophe, Lochmüller, Hanns

“…ABSTRACT Analyzing the type and frequency of patient‐specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for…”
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Delays in diagnosis of Duchenne muscular dystrophy: An evaluation of genotypic and sociodemographic factors by Counterman, Kevin J., Furlong, Pat, Wang, Richard T., Martin, Ann S.

“…Introduction In this study we investigate associations between genotypic and sociodemographic factors and the age of diagnosis of Duchenne muscular dystrophy…”
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DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype by Wang, Richard T., Barthelemy, Florian, Martin, Ann S., Douine, Emilie D., Eskin, Ascia, Lucas, Ann, Lavigne, Jenifer, Peay, Holly, Khanlou, Negar, Sweeney, Lee, Cantor, Rita M., Miceli, M. Carrie, Nelson, Stanley F.

“…Antisense oligonucleotide (AON)‐mediated exon skipping is an emerging therapeutic for individuals with Duchenne muscular dystrophy (DMD). Skipping of exons…”
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Evaluating Implementation of the Updated Care Considerations for Duchenne Muscular Dystrophy by Ong, Katherine S, Kinnett, Kathi, Soelaeman, Rieza, Webb, Lauren, Bain, Jennifer S, Martin, Ann S, Westfield, Christina, Bolen, Julie, Street, Natalie

“…Care Considerations for Duchenne Muscular Dystrophy were published in 2010. However, little is known about the extent to which these considerations were…”
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Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors by Pickart, Angela M, Martin, Ann S, Gross, Brianna N, Dellefave-Castillo, Lisa M, McCallen, Leslie M, Nagaraj, Chinmayee B, Rippert, Alyssa L, Schultz, Catherine P, Ulm, Elizabeth A, Armstrong, Niki

“…The dystrophinopathies encompass the phenotypically variable forms of muscular dystrophy caused by pathogenic variants in the DMD gene. The dystrophinopathies…”
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Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database by Koeks, Zaïda, Bladen, Catherine L, Salgado, David, van Zwet, Erik, Pogoryelova, Oksana, McMacken, Grace, Monges, Soledad, Foncuberta, Maria E, Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Bellgard, Matthew I, Roy, Anna J, Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lähdetie, Jaana, Walter, Maggie C, Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Ferlini, Alessandra, Kimura, En, van den Bergen, Janneke C, Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Klein, Andrea, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A Ayşe, Oznur, Tunca, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V, Martin, Ann S, Peay, Holly L, Kirschner, Jan, Flanigan, Kevin M, Straub, Volker, Bushby, Kate, Béroud, Christophe, Verschuuren, Jan J, Lochmüller, Hanns

“…Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than…”
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The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia by Bladen, Catherine L., Rafferty, Karen, Straub, Volker, Monges, Soledad, Moresco, Angélica, Dawkins, Hugh, Roy, Anna, Chamova, Teodora, Guergueltcheva, Velina, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Barišić, Nina, Kos, Tea, Brabec, Petr, Rahbek, Jes, Lahdetie, Jaana, Tuffery-Giraud, Sylvie, Claustres, Mireille, Leturcq, France, Ben Yaou, Rabah, Walter, Maggie C., Schreiber, Olivia, Karcagi, Veronika, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, de la caridad Guerrero Sarmiento, Isis, Ambrosini, Anna, Ceradini, Francesca, Kimura, En, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Oliveira, Jorge, Santos, Rosário, Neagu, Elena, Butoianu, Niculina, Artemieva, Svetlana, Rasic, Vedrana Milic, Posada, Manuel, Palau, Francesc, Lindvall, Björn, Bloetzer, Clemens, Karaduman, Ayşe, Topaloğlu, Haluk, Inal, Serap, Oflazer, Piraye, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly, Flanigan, Kevin M., Salgado, David, von Rekowski, Brigitta, Lynn, Stephen, Heslop, Emma, Gainotti, Sabina, Taruscio, Domenica, Kirschner, Jan, Verschuuren, Jan, Bushby, Kate, Béroud, Christophe, Lochmüller, Hanns

“…ABSTRACT Duchenne muscular dystrophy (DMD) is an X‐linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are…”
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Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy by Aartsma-Rus, Annemieke, Hegde, Madhuri, Ben-Omran, Tawfeg, Buccella, Filippo, Ferlini, Alessandra, Gallano, Pia, Howell, R. Rodney, Leturcq, France, Martin, Ann S., Potulska-Chromik, Anna, Saute, Jonas A., Schmidt, Wolfgang M., Sejersen, Thomas, Tuffery-Giraud, Sylvie, Uyguner, Zehra Oya, Witcomb, Luci A., Yau, Shu, Nelson, Stanley F.

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Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review by Waldrop, Megan A, Yaou, Rabah Ben, Lucas, Karin K, Martin, Ann S, O'Rourke, Erin, Ferlini, Alessandra, Muntoni, Francesco, Leturcq, France, Tuffery-Giraud, Sylvie, Weiss, Robert B, Flanigan, Kevin M

“…Eteplirsen, the first FDA-approved RNA-modifying therapy for DMD, is applicable to ∼13% of patients with DMD. Because multiple exonic deletions are amenable to…”
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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats by Stankiewicz, Paweł, Kulkarni, Shashikant, Dharmadhikari, Avinash V., Sampath, Srirangan, Bhatt, Samarth S., Shaikh, Tamim H., Xia, Zhilian, Pursley, Amber N., Cooper, M. Lance, Shinawi, Marwan, Paciorkowski, Alex R., Grange, Dorothy K., Noetzel, Michael J., Saunders, Scott, Simons, Paul, Summar, Marshall, Lee, Brendan, Scaglia, Fernando, Fellmann, Florence, Martinet, Danielle, Beckmann, Jacques S., Asamoah, Alexander, Platky, Kathryn, Sparks, Susan, Martin, Ann S., Madan-Khetarpal, Suneeta, Hoover, Jacqueline, Medne, Livija, Bonnemann, Carsten G., Moeschler, John B., Vallee, Stephanie E., Parikh, Sumit, Irwin, Polly, Dalzell, Victoria P., Smith, Wendy E., Banks, Valerie C., Flannery, David B., Lovell, Carolyn M., Bellus, Gary A., Golden-Grant, Kathryn, Gorski, Jerome L., Kussmann, Jennifer L., McGregor, Tracy L., Hamid, Rizwan, Pfotenhauer, Jean, Ballif, Blake C., Shaw, Chad A., Kang, Sung-Hae L., Bacino, Carlos A., Patel, Ankita, Rosenfeld, Jill A., Cheung, Sau Wai, Shaffer, Lisa G.

“…We report 24 unrelated individuals with deletions and 17 additional cases with duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The…”
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DuchenneConnect Registry Report by Rangel, Vanessa, Martin, Ann S, Peay, Holly L

“…Research activity in Duchenne/Becker muscular dystrophy has surged in recent years, requiring robust information networks to support ongoing development…”
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Prevalence, Clinical Profile and Risk Factors of Cefepime Induced Neurotoxicity among Chronic Kidney Disease Patients in a Tertiary Hospital in Southern Philippines: PUB367 by Serenina-Martin, Ann Kristine S., Querequincia, Karen Ann

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Cover Image, Volume 39, Issue 9 by Wang, Richard T., Barthelemy, Florian, Martin, Ann S., Douine, Emilie D., Eskin, Ascia, Lucas, Ann, Lavigne, Jenifer, Peay, Holly, Khanlou, Negar, Sweeney, Lee, Cantor, Rita M., Miceli, M. Carrie, Nelson, Stanley F.

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Knowledge of carrier status and barriers to testing among mothers of sons with duchenne or becker muscular dystrophy by Bogue, Lauren, MS, Peay, Holly, PhD, Martin, Ann, MS, Lucas, Ann, MS, Ramchandren, Sindhu, MD, MS

“…Highlights • We surveyed 182 women with son(s) with Duchenne/Becker Muscular Dystrophy • 39% didn't know or incorrectly classified their carrier risk status •…”
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Senior citizens in day and residential camping by Fornaciari, Gilbert M, Martin-Fornaciari, Ann S

“…[...] according to Asenath LaRue, a senior scientist at University of Wisconsin School of Medicine and Public Health, there are three main preventative actions…”
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