Search Results - "Mathews, Katherine"

Using integrative taxonomy to clarify species boundaries in Diervilla (bush-honeysuckle, Caprifoliaceae) by Mathews, Katherine G, Wheeler, Brandon, Silveira, Luiz

“…Abstract The taxonomic limits across Diervilla, a genus endemic to Eastern North America, are puzzling, compounded by broad morphological variation within…”
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Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease by Gonorazky, Hernan D., Naumenko, Sergey, Ramani, Arun K., Nelakuditi, Viswateja, Mashouri, Pouria, Wang, Peiqui, Kao, Dennis, Ohri, Krish, Viththiyapaskaran, Senthuri, Tarnopolsky, Mark A., Mathews, Katherine D., Moore, Steven A., Osorio, Andres N., Villanova, David, Kemaladewi, Dwi U., Cohn, Ronald D., Brudno, Michael, Dowling, James J.

“…Gene-panel and whole-exome analyses are now standard methodologies for mutation detection in Mendelian disease. However, the diagnostic yield achieved is at…”
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Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study) by Lynch, David R., Chin, Melanie P., Delatycki, Martin B., Subramony, S. H., Corti, Manuela, Hoyle, J. Chad, Boesch, Sylvia, Nachbauer, Wolfgang, Mariotti, Caterina, Mathews, Katherine D., Giunti, Paola, Wilmot, George, Zesiewicz, Theresa, Perlman, Susan, Goldsberry, Angie, O'Grady, Megan, Meyer, Colin J.

“…Objective Friedreich ataxia (FA) is a progressive genetic neurodegenerative disorder with no approved treatment. Omaveloxolone, an Nrf2 activator, improves…”
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Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed‐Start Analysis of the MOXIe Extension by Lynch, David R., Chin, Melanie P., Boesch, Sylvia, Delatycki, Martin B., Giunti, Paola, Goldsberry, Angie, Hoyle, J. Chad, Mariotti, Caterina, Mathews, Katherine D., Nachbauer, Wolfgang, O'Grady, Megan, Perlman, Susan, Subramony, S.H., Wilmot, George, Zesiewicz, Theresa, Meyer, Colin J.

“…ABSTRACT Background MOXIe was a two‐part study evaluating the safety and efficacy of omaveloxolone in patients with Friedreich's ataxia, a rare, progressive…”
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CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis by Rieken, Autumn, Bossler, Aaron D., Mathews, Katherine D., Moore, Steven A.

“…To summarize facioscapulohumeral muscular dystrophy (FSHD) diagnostic testing results from the University of Iowa Molecular Pathology Laboratory. All FSHD…”
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More than Tuskegee: understanding mistrust about research participation by Scharff, Darcell P, Mathews, Katherine J, Jackson, Pamela, Hoffsuemmer, Jonathan, Martin, Emeobong, Edwards, Dorothy

“…This paper describes results of a qualitative study that explored barriers to research participation among African American adults. A purposive sampling…”
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Central Nervous System Infections Due to Streptococcus anginosus Group: A Single-Center Case Series by Madathil, Sujana, Matsumoto, Satsuki, Mathews, Katherine D., Glykys, Joseph

“…Background The Streptococcus anginosus group is known for its pathogenicity and tendency for abscess formation. The S anginosus group also causes brain…”
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Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial by Mercuri, Eugenio, Vilchez, Juan J, Boespflug-Tanguy, Odile, Zaidman, Craig M, Mah, Jean K, Goemans, Nathalie, Müller-Felber, Wolfgang, Niks, Erik H, Schara-Schmidt, Ulrike, Bertini, Enrico, Comi, Giacomo P, Mathews, Katherine D, Servais, Laurent, Vandenborne, Krista, Johannsen, Jessika, Messina, Sonia, Spinty, Stefan, McAdam, Laura, Selby, Kathryn, Byrne, Barry, Laverty, Chamindra G, Carroll, Kevin, Zardi, Giulia, Cazzaniga, Sara, Coceani, Nicoletta, Bettica, Paolo, McDonald, Craig M, Acsadi, Gyula, Baranello, Giovanni, Blaschek, Astrid, Brandsema, John, Brogna, Claudia, Bruno, Claudio, Connolly, Anne, de Groot, Imelda, De Waele, Liesbeth, Finanger, Erika, Finkel, Richard, Gidaro, Teresa, Guglieri, Michaela, Harper, Amy, Lopez Lobato, Mercedes, Madruga Garrido, Marcos, Magri, Francesca, Manousakis, Georgios, Masson, Riccardo, Monduy, Migvis, Muelas Gomez, Nuria, Munell, Francina, Nascimento, Andres, Nevo, Yoram, Pereon, Yann, Phan, Han, Sansone, Valeria, Scoto, Mariacristina, Vucinic, Dragana, Willis, Tracey

“…Duchenne muscular dystrophy, the most common childhood muscular dystrophy, is caused by dystrophin deficiency. Preclinical and phase 2 study data have…”
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Combination molecular therapies for spinal muscular atrophy: How much is enough? by Mathews, Katherine D., Iannaccone, Susan T.

“…See article on Issue MUS 62:4 pages 550–554…”
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Diagnostic approach to the congenital muscular dystrophies by Bönnemann, Carsten G, Wang, Ching H, Quijano-Roy, Susana, Deconinck, Nicolas, Bertini, Enrico, Ferreiro, Ana, Muntoni, Francesco, Sewry, Caroline, Béroud, Christophe, Mathews, Katherine D, Moore, Steven A, Bellini, Jonathan, Rutkowski, Anne, North, Kathryn N

“…Abstract Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital…”
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Prevalence of Duchenne and Becker muscular dystrophies in the United States by Romitti, Paul A, Zhu, Yong, Puzhankara, Soman, James, Katherine A, Nabukera, Sarah K, Zamba, Gideon K D, Ciafaloni, Emma, Cunniff, Christopher, Druschel, Charlotte M, Mathews, Katherine D, Matthews, Dennis J, Meaney, F John, Andrews, Jennifer G, Conway, Kristin M Caspers, Fox, Deborah J, Street, Natalie, Adams, Melissa M, Bolen, Julie

“…To estimate prevalence of childhood-onset Duchenne and Becker muscular dystrophies (DBMD) in 6 sites in the United States by race/ethnicity and phenotype…”
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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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Time to diagnosis of Duchenne muscular dystrophy remains unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network, 2000‐2015 by Thomas, Shiny, Conway, Kristin M., Fapo, Olushola, Street, Natalie, Mathews, Katherine D., Mann, Joshua R., Romitti, Paul A., Soim, Aida, Westfield, Christina, Fox, Deborah J., Ciafaloni, Emma

“…Introduction/Aims With current and anticipated disease‐modifying treatments, including gene therapy, an early diagnosis for Duchenne muscular dystrophy (DMD)…”
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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome by Willer, Tobias, Lee, Hane, Lommel, Mark, Yoshida-Moriguchi, Takako, de Bernabe, Daniel Beltran Valero, Venzke, David, Cirak, Sebahattin, Schachter, Harry, Vajsar, Jiri, Voit, Thomas, Muntoni, Francesco, Loder, Andrea S, Dobyns, William B, Winder, Thomas L, Strahl, Sabine, Mathews, Katherine D, Nelson, Stanley F, Moore, Steven A, Campbell, Kevin P

“…Kevin Campbell and colleagues identify mutations in ISPD as a cause of Walker-Warburg syndrome (WWS) using a complementation assay in fibroblasts derived from…”
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The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID‐19 pandemic by 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

“…The coronavirus disease 2019 (COVID‐19) pandemic has resulted in the reorganization of health‐care settings affecting clinical care delivery to patients with…”
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The Influence of a Genetic Variant in CCDC78 on LMNA -Associated Skeletal Muscle Disease by Mohar, Nathaniel P, Cox, Efrem M, Adelizzi, Emily, Moore, Steven A, Mathews, Katherine D, Darbro, Benjamin W, Wallrath, Lori L

“…Mutations in the gene-encoding A-type lamins can cause Limb-Girdle muscular dystrophy Type 1B (LGMD1B). This disease presents with weakness and wasting of the…”
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Genotype-phenotype correlations in recessive RYR1-related myopathies by Amburgey, Kimberly, Bailey, Angela, Hwang, Jean H, Tarnopolsky, Mark A, Bonnemann, Carsten G, Medne, Livija, Mathews, Katherine D, Collins, James, Daube, Jasper R, Wellman, Gregory P, Callaghan, Brian, Clarke, Nigel F, Dowling, James J

“…RYR1 mutations are typically associated with core myopathies and are the most common overall cause of congenital myopathy. Dominant mutations are most often…”
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Gastrointestinal and genitourinary symptoms in facioscapulohumeral muscular dystrophy: Prevalence and impact by Cole, Michael R., Cooper, Christopher S., Hanna, Eyad M., Zimmerman, M. Bridget, Kinoshita, June, Mathews, Katherine D.

“…Introduction/Aims Anecdotally, patients with facioscapulohumeral muscular dystrophy (FSHD) describe gastrointestinal (GI) and genitourinary (GU) symptoms. We…”
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Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia by Lynch, David R., Mathews, Katherine D., Perlman, Susan, Zesiewicz, Theresa, Subramony, Sub, Omidvar, Omid, Vogel, Adam P., Krtolica, Ana, Litterman, Nadia, van der Ploeg, Lex, Heerinckx, Frederic, Milner, Peter, Midei, Mark

“…Objectives Friedreich ataxia is (FRDA) an autosomal recessive neurodegenerative disorder associated with intrinsic oxidative damage, suggesting that decreasing…”
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Delayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) by Ciafaloni, Emma, MD, Fox, Deborah J., MPH, Pandya, Shree, PT, MS, Westfield, Christina P., RN, BSN, Puzhankara, Soman, MS, Romitti, Paul A., PhD, Mathews, Katherine D., MD, Miller, Timothy M., MD, Matthews, Dennis J., MD, Miller, Lisa A., MD, MSPH, Cunniff, Christopher, MD, Druschel, Charlotte M., MD, MPH, Moxley, Richard T., MD

“…Objective To identify key factors for the delay in diagnosis of Duchenne muscular dystrophy (DMD) without known family history. Study design The cohort comes…”
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