Search Results - "Maresh, Kate"

Understanding anxiety experienced by young males with Duchenne muscular dystrophy: a qualitative focus group study by Trimmer, Rachel E., Mandy, William P.L., Muntoni, Francesco, Maresh, Kate E.

“…•The first qualitative study of the experiences of anxiety in young people with DMD.•We identified six anxiety characteristics describing the anxiety phenotype…”
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Development of a novel startle response task in Duchenne muscular dystrophy by Maresh, Kate, Papageorgiou, Andriani, Ridout, Deborah, Harrison, Neil, Mandy, William, Skuse, David, Muntoni, Francesco

“…Duchenne muscular dystrophy (DMD), an X-linked childhood-onset muscular dystrophy caused by loss of the protein dystrophin, can be associated with…”
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WED 237 Phosphorodiamidate morpholino oligomers for treatment of duchenne muscular dystrophy by Kate, Maresh, May, Tiet, Michela, Guglieri, Joana, Domingos, Volker, Straub, Thomas, Voit, Francesco, Muntoni

“…Exon skipping is a novel, mutation-specific approach to treating patients with Duchenne muscular dystrophy (DMD). Phosphorodiamidate morpholino oligomers are…”
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Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy by Chesshyre, Mary, Ridout, Deborah, Hashimoto, Yasumasa, Ookubo, Yoko, Torelli, Silvia, Maresh, Kate, Ricotti, Valeria, Abbott, Lianne, Gupta, Vandana Ayyar, Main, Marion, Ferrari, Giulia, Kowala, Anna, Lin, Yung‐Yao, Tedesco, Francesco Saverio, Scoto, Mariacristina, Baranello, Giovanni, Manzur, Adnan, Aoki, Yoshitsugu, Muntoni, Francesco

“…Background Duchenne muscular dystrophy (DMD) is caused by DMD mutations leading to dystrophin loss. Full‐length Dp427 is the primary dystrophin isoform…”
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Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency by Maresh, Kate, Papageorgiou, Andriani, Ridout, Deborah, Harrison, Neil A, Mandy, William, Skuse, David, Muntoni, Francesco

“…Duchenne muscular dystrophy (DMD) is characterized by loss of dystrophin in muscle, however patients also have variable degree of intellectual disability and…”
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076  Increased physiological responses to threat in Duchenne muscular dystrophy: a potential CNS outcome measure by Maresh, Kate E, Papageorgiou, Andriani, Ridout, Deborah, Harrison, Neil A, Mandy, William, Skuse, David, Muntoni, Francesco

“…Dystrophin is expressed in brain as well as muscle, and its loss in Duchenne muscular dystrophy (DMD) causes CNS disturbance in addition to muscle pathology. A…”
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Mechanisms determining the salience of coloration in echoed sound: influence of interaural time and level differences by Krumbholz, Katrin, Maresh, Kate, Tomlinson, Jennifer, Patterson, Roy D, Seither-Preisler, Annemarie, Lütkenhöner, Bernd

“…This study investigates whether the salience of the pitch associated with a single reflection of a broadband sound, such as noise, is determined by the…”
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Characterising the Influence of Dystrophin Brain Isoform Involvement on the Pattern of Motor Impairment in Duchenne Muscular Dystrophy (4467) by Chesshyre, Mary, Ridout, Deborah, Abbott, Lianne, Gupta, Vandana Ayyar, Maresh, Kate, Manzur, Adnan, Scoto, Mariacristina, Baranello, Giovanni, Main, Marion, Muntoni, Francesco

“…Abstract only…”
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Genotype‐related respiratory progression in Duchenne muscular dystrophy—A multicenter international study by Trucco, Federica, Ridout, Deborah, Domingos, Joana, Maresh, Kate, Chesshyre, Mary, Munot, Pinki, Sarkozy, Anna, Robb, Stephanie, Quinlivan, Rosaline, Riley, Mollie, Wallis, Colin, Chan, Elaine, Abel, Francois, De Lucia, Silvana, Hogrel, Jean‐Yves, Niks, Erik H., Groot, Imelda, Servais, Laurent, Straub, Volker, Ricotti, Valeria, Manzur, Adnan, Muntoni, Francesco

“…Introduction/Aims Mutations amenable to skipping of specific exons have been associated with different motor progression in Duchenne muscular dystrophy (DMD)…”
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Deep Phenotyping of the Central Nervous System in Duchenne Muscular Dystrophy by Maresh, Kate Eleanor

“…Duchenne muscular dystrophy (DMD) is an X-linked, life-limiting muscle-wasting disorder caused by a loss of the protein dystrophin. Approximately half of DMD…”
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T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy by Anthony, Karen, Ala, Pierpaolo, Catapano, Francesco, Meng, Jinhong, Domingos, Joana, Perry, Mark, Ricotti, Valeria, Maresh, Kate, Phillips, Lauren C, Servais, Laurent, Seferian, Andreea M, De Lucia, Silvana, de Groot, Imelda, Krom, Yvonne D, Verschuuren, J G M, Niks, Erik H, Straub, Volker, Guglieri, Michela, Voit, Thomas, Morgan, Jennifer, Muntoni, Francesco

“…Duchenne muscular dystrophy (DMD) is caused by the lack of dystrophin, but many patients have rare revertant fibers that express dystrophin. The skeletal…”
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Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy by Trucco, Federica, Domingos, Joana P., Tay, Chee Geap, Ridout, Deborah, Maresh, Kate, Munot, Pinki, Sarkozy, Anna, Robb, Stephanie, Quinlivan, Rosaline, Riley, Mollie, Burch, Michael, Fenton, Matthew, Wallis, Colin, Chan, Elaine, Abel, Francois, Manzur, Adnan Y., Muntoni, Francesco

“…Corticosteroids (CSs) have prolonged survival and respiratory function in boys with Duchenne muscular dystrophy (DMD) when compared with CSs-naïve boys. The…”
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Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping by Mercuri, E., Seferian, A.M., Servais, L., Deconinck, N., Stevenson, H., Ni, X., Zhang, W., East, L., Yonren, S., Muntoni, F., Deconinck, Nicolas, Van Coster, Rudy, Vanlander, Arnaud, Seferian, Andreea, De Lucia, Silvana, Gidaro, Teresa, Brande, Laura Vanden, Servais, Laurent, Kirschner, Janbernd, Borell, Sabine, Mercuri, Eugenio, Brogna, Claudia, Pane, Marika, Fanelli, Lavinia, Norcia, Giulia, Muntoni, Francesco, Brusa, Chiara, Chesshyre, Mary, Maresh, Kate, Pitchforth, Jaqueline, Schottlaender, Lucia, Scoto, Mariacristina, Silwal, Arpana, Trucco, Fedrica

“…•First clinical trial of eteplirsen in patients with DMD aged 6 to 48 months.•Safety experience was consistent with the known safety profile of…”
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Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study by Trucco, Federica, Domingos, Joana P, Tay, Chee Geap, Ridout, Deborah, Maresh, Kate, Munot, Pinki, Sarkozy, Anna, Robb, Stephanie, Quinlivan, Rosaline, Riley, Mollie, Burch, Michael, Fenton, Matthew, Wallis, Colin, Chan, Elaine, Abel, Francois, Manzur, Adnan Y, Muntoni, Francesco

“…Corticosteroids (CSs) have prolonged survival and respiratory function in boys with Duchenne muscular dystrophy (DMD) when compared with CSs-naïve boys. The…”
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Novel free-circulating and extracellular vesicle-derived miRNAs dysregulated in Duchenne muscular dystrophy by Catapano, Francesco, Scaglioni, Dominic, Maresh, Kate, Ala, Pierpaolo, Domingos, Joana, Selby, Victoria, Ricotti, Valeria, Phillips, Lauren, Servais, Laurent, Seferian, Andreea, Groot, Imelda de, Krom, Yvonne D, Voit, Thomas, Verschuuren, J J G M, Niks, E H, Straub, Volker, Morgan, Jennifer, Muntoni, Francesco

“…To perform cross-sectional and longitudinal miRNA profiling in plasma from Duchenne muscular dystrophy (DMD) subjects and find non-invasive biomarkers in DMD…”
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