MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast von Baruffini, Enrico, Dallabona, Cristina, Invernizzi, Federica, Yarham, John W., Melchionda, Laura, Blakely, Emma L., Lamantea, Eleonora, Donnini, Claudia, Santra, Saikat, Vijayaraghavan, Suresh, Roper, Helen P., Burlina, Alberto, Kopajtich, Robert, Walther, Anett, Strom, Tim M., Haack, Tobias B., Prokisch, Holger, Taylor, Robert W., Ferrero, Ileana, Zeviani, Massimo, Ghezzi, Daniele

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Skeletal muscle collagen content in humans after high-force eccentric contractions von Mackey, Abigail L, Donnelly, Alan E, Turpeenniemi-Hujanen, Taina, Roper, Helen P

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Postexercise Muscle Glycogen Synthesis with Combined Glucose and Fructose Ingestion von WALLIS, Gareth A, HULSTON, Carl J, MANN, Christopher H, ROPER, Helen P, TIPTON, Kevin D, JEUKENDRUP, Asker E

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Duchenne muscular dystrophy: the management of scoliosis von Archer, James E., Gardner, Adrian C., Roper, Helen P., Chikermane, Ashish A., Tatman, Andrew J.

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Duchenne muscular dystrophy: the management of scoliosis von Archer, James E., Gardner, Adrian C., Roper, Helen P., Chikermane, Ashish A., Tatman, Andrew J.

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Duchenne muscular dystrophy von Roper, Helen P

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Child and Adolescent Obesity: Causes and Consequences, Prevention and Management von Roper, Helen P

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Duchenne muscular dystrophy: E. Emery, F. Muntoni (Eds); Oxford University Press, New York, 2003, 3rd edition, ISBN No. 0 19 851531 6 (£79.50) von Roper, Helen P

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Routine gastric residual volume measurement to guide enteral feeding in mechanically ventilated infants and children: the GASTRIC feasibility study von Tume, Lyvonne N, Woolfall, Kerry, Arch, Barbara, Roper, Louise, Deja, Elizabeth, Jones, Ashley P, Latten, Lynne, Pathan, Nazima, Eccleson, Helen, Hickey, Helen, Parslow, Roger, Preston, Jennifer, Beissel, Anne, Andrzejewska, Izabela, Gale, Chris, Valla, Frederic V, Dorling, Jon

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Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial von Bertini, Enrico, Prof, Dessaud, Eric, PhD, Mercuri, Eugenio, Prof, Muntoni, Francesco, Prof, Kirschner, Janbernd, Prof, Reid, Carol, PhD, Lusakowska, Anna, MD, Comi, Giacomo P, Prof, Cuisset, Jean-Marie, MD, Abitbol, Jean-Louis, MD, Scherrer, Bruno, PhD, Ducray, Patricia Sanwald, PhD, Buchbjerg, Jeppe, MSc, Vianna, Eduardo, PhD, van der Pol, W Ludo, MD, Vuillerot, Carole, MD, Blaettler, Thomas, MD, Fontoura, Paulo, MD

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Different corticosteroid induction regimens in children and young people with juvenile idiopathic arthritis: the SIRJIA mixed-methods feasibility study von Jones, Ashley P, Clayton, Dannii, Nkhoma, Gloria, Sherratt, Frances C, Peak, Matthew, Stones, Simon R, Roper, Louise, Young, Bridget, McErlane, Flora, Moitt, Tracy, Ramanan, Athimalaipet V, Foster, Helen E, Williamson, Paula R, Deepak, Samundeeswari, Beresford, Michael W, Baildam, Eileen M

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ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies von CIRAK, Sebahattin, REGHAN FOLEY, Aileen, ROPER, Helen, LONGMAN, Cheryl, KORINTHENBERG, Rudolf, MARROSU, Gianni, NÜRNBERG, Peter, MICHELE, Daniel E, PLAGNOL, Vincent, HURLES, Matt, MOORE, Steven A, SEWRY, Caroline A, HERRMANN, Ralf, CAMPBELL, Kevin P, VOIT, Thomas, MUNTONI, Francesco, WILLER, Tobias, YAU, Shu, STEVENS, Elizabeth, TORELLI, Silvia, BRODD, Lina, KAMYNINA, Alisa, VONDRACEK, Petr

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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues von Biancalana, Valérie, Scheidecker, Sophie, Miguet, Marguerite, Laquerrière, Annie, Romero, Norma B., Stojkovic, Tanya, Abath Neto, Osorio, Mercier, Sandra, Voermans, Nicol, Tanner, Laura, Rogers, Curtis, Ollagnon-Roman, Elisabeth, Roper, Helen, Boutte, Célia, Ben-Shachar, Shay, Lornage, Xavière, Vasli, Nasim, Schaefer, Elise, Laforet, Pascal, Pouget, Jean, Moerman, Alexandre, Pasquier, Laurent, Marcorelle, Pascale, Magot, Armelle, Küsters, Benno, Streichenberger, Nathalie, Tranchant, Christine, Dondaine, Nicolas, Schneider, Raphael, Gasnier, Claire, Calmels, Nadège, Kremer, Valérie, Nguyen, Karine, Perrier, Julie, Kamsteeg, Erik Jan, Carlier, Pierre, Carlier, Robert-Yves, Thompson, Julie, Boland, Anne, Deleuze, Jean-François, Fardeau, Michel, Zanoteli, Edmar, Eymard, Bruno, Laporte, Jocelyn

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Global intercompany assessment of ICIEF platform comparability for the characterization of therapeutic proteins von Madren, Seth, McElroy, Will, Schultz‐Kuszak, Kristin, Boumajny, Boris, Shu, Yao, Sautter, Sabine, Zhao, Helen C., Schadock‐Hewitt, Abby, Chumsae, Chris, Ball, Nancy, Zhang, Xiaoying, Rish, Kimberly, Zhang, Shukui, Wurm, Christine, Cai, Sumin, Bauer, Scott P., Stella, Cinzia, Zheng, Laura, Roper, Brian, Michels, David A., Wu, Gang, Kocjan, Bostjan, Birk, Matej, Erdmann, Simon Erik, He, Xiaoping, Whittaker, Brad, Song, Yvonne, Barrett, Hannah, Strozyk, Kevin, Jing, Ye, Huang, Long, Mhatre, Vishal, McLean, Paul, Yu, Tiantian, Yang, Huijuan, Mattila, Minna

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Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment von Wiessner, Manuela, Roos, Andreas, Munn, Christopher J., Viswanathan, Ranjith, Whyte, Tamieka, Cox, Dan, Schoser, Benedikt, Sewry, Caroline, Roper, Helen, Phadke, Rahul, Marini Bettolo, Chiara, Barresi, Rita, Charlton, Richard, Bönnemann, Carsten G., Abath Neto, Osório, Reed, Umbertina C., Zanoteli, Edmar, Araújo Martins Moreno, Cristiane, Ertl-Wagner, Birgit, Stucka, Rolf, De Goede, Christian, Borges da Silva, Tamiris, Hathazi, Denisa, Dell’Aica, Margherita, Zahedi, René P., Thiele, Simone, Müller, Juliane, Kingston, Helen, Müller, Susanna, Curtis, Elizabeth, Walter, Maggie C., Strom, Tim M., Straub, Volker, Bushby, Kate, Muntoni, Francesco, Swan, Laura E., Lochmüller, Hanns, Senderek, Jan

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Histological heterogeneity in a large clinical cohort of juvenile idiopathic inflammatory myopathy: analysis by myositis autoantibody and pathological features von Yasin, S. A., Schutz, P. W., Deakin, C. T., Sag, E., Simou, S., Marshall, L. R., Tansley, S. L., McHugh, N. J., Holton, J. L., Wedderburn, L. R., Jacques, T. S., Armon, Kate, Ellis‐Gage, Joe, Briggs, Vanja, Watts, Joanna, McCann, Liza, Roberts, Ian, Baildam, Eileen, Hanna, Lou, Lloyd, Olivia, Wadeson, Susan, Riley, Phil, McGovern, Ann, Ryder, Clive, Scott, Janis, Thomas, Beverley, Southwood, Taunton, Al‐Abadi, Eslam, Wyatt, Sue, Jackson, Gillian, Wood, Mark, VanRooyen, Vanessa, Burton, Deborah, Davidson, Joyce, Gardner‐Medwin, Janet, Martin, Neil, Waxman, Liz, Browne, Michael, Friswell, Mark, Foster, Helen, Swift, Alison, Stevenson, Vicky, Wade, Debbie, Sen, Ethan, Smith, Eve, Qiao, Lisa, Watson, Stuart, Duong, Claire, Venning, Helen, Satyapal, Rangaraj, Stretton, Elizabeth, Jordan, Mary, Mosley, Ellen, Frost, Anna, Crate, Lindsay, Warrier, Kishore, ord, Stefanie, Pilkington, Clarissa, Hasson, Nathan, Halkon, Elizabeth, Brown, Virginia, Juggins, Audrey, Smith, Sally, Lunt, Sian, Enayat, Elli, Kassoumeri, Laura, Beard, Laura, Arnold, Katie, Glackin, Yvonne, Simou, Stephanie, Almeida, Beverley, Nistala, Kiran, Dowle, Stefanie, Papadopoulou, Charis, Johnson‐Moore, Cer, Robinson, Emily, Murray, Kevin, Ioannou, John, Suffield, Linda, Al‐Obaidi, Muthana, Lee, Helen, Leach, Sam, McMahon, Anne‐Marie, Chisem, Heather, Kingshott, Ruth, Wilkinson, Nick, Inness, Emma, Kendall, Eunice, Mayers, David, Bailey, Kathryn, Fineman, Natalie, Pluess‐Hall, Helen, Akeroyd, Lou, Leahy, Alice, Collier, Amy, Cutts, Rebecca, Macleod, Emma, De Graaf, Hans, Hartfree, Sarah, Pratt, Danny

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TRAPPC11‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain von Munot, Pinki, McCrea, Nadine, Torelli, Silvia, Manzur, Adnan, Sewry, Caroline, Chambers, Darren, Feng, Lucy, Ala, Pierpaolo, Zaharieva, Irina, Ragge, Nicola, Roper, Helen, Marton, Tamas, Cox, Phil, Milev, Miroslav P., Liang, Wen‐Chen, Maruyama, Shinsuke, Nishino, Ichizo, Sacher, Michael, Phadke, Rahul, Muntoni, Francesco

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Determining Optimal Outcome Measures in a Trial Investigating No Routine Gastric Residual Volume Measurement in Critically Ill Children von Tume, Lyvonne N., Arch, Barbara, Woolfall, Kerry, Roper, Louise, Deja, Elizabeth, Jones, Ashley P., Latten, Lynne, Eccleson, Helen, Hickey, Helen, Pathan, Nazima, Preston, Jenny, Beissel, Anne, Andrzejewska, Izabela, Gale, Chris, Valla, Frederic V., Dorling, Jon

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Developing standardized corticosteroid treatment for Duchenne muscular dystrophy von Guglieri, Michela, Bushby, Kate, McDermott, Michael P, Hart, Kimberly A, Tawil, Rabi, Martens, William B, Herr, Barbara E, McColl, Elaine, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M, Eagle, Michele, Brown, Mary W, Willis, Tracey, Hirtz, Deborah, Shieh, Perry B, Straub, Volker, Childs, Anne-Marie, Ciafaloni, Emma, Butterfield, Russell J, Horrocks, Iain, Spinty, Stefan, Flanigan, Kevin M, Kuntz, Nancy L, Baranello, Giovanni, Roper, Helen, Morrison, Leslie, Mah, Jean K, Manzur, Adnan Y, McDonald, Craig M, Schara, Ulrike, von der Hagen, Maja, Barohn, Richard J, Campbell, Craig, Darras, Basil T, Finkel, Richard S, Vita, Giuseppe, Hughes, Imelda, Mongini, Tiziana, Pegoraro, Elena, Wicklund, Matthew, Wilichowski, Ekkehard, Bryan Burnette, W, Howard, James F, McMillan, Hugh J, Thangarajh, Mathula, Griggs, Robert C

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Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy von Spielmann, Nadine, Miller, Gregor, Oprea, Tudor I, Hsu, Chih-Wei, Fobo, Gisela, Frishman, Goar, Montrone, Corinna, Haseli Mashhadi, Hamed, Mason, Jeremy, Munoz Fuentes, Violeta, Leuchtenberger, Stefanie, Ruepp, Andreas, Wagner, Matias, Westphal, Dominik S, Wolf, Cordula, Görlach, Agnes, Sanz-Moreno, Adrián, Cho, Yi-Li, Teperino, Raffaele, Brandmaier, Stefan, Sharma, Sapna, Galter, Isabella Rikarda, Östereicher, Manuela A, Zapf, Lilly, Mayer-Kuckuk, Philipp, Rozman, Jan, Teboul, Lydia, Bunton-Stasyshyn, Rosie K A, Cater, Heather, Stewart, Michelle, Christou, Skevoulla, Westerberg, Henrik, Willett, Amelia M, Wotton, Janine M, Roper, Willson B, Christiansen, Audrey E, Ward, Christopher S, Heaney, Jason D, Reynolds, Corey L, Prochazka, Jan, Bower, Lynette, Clary, David, Selloum, Mohammed, Bou About, Ghina, Wendling, Olivia, Jacobs, Hugues, Leblanc, Sophie, Meziane, Hamid, Sorg, Tania, Audain, Enrique, Gilly, Arthur, Rayner, Nigel W, Hitz, Marc-Phillip, Zeggini, Eleftheria, Wolf, Eckhard, Sedlacek, Radislav, Murray, Steven A, Svenson, Karen L, Braun, Robert E, White, Jaqueline K, Kelsey, Lois, Gao, Xiang, Shiroishi, Toshihiko, Xu, Ying, Seong, Je Kyung, Mammano, Fabio, Tocchini-Valentini, Glauco P, Beaudet, Arthur L, Meehan, Terrence F, Parkinson, Helen, Smedley, Damian, Mallon, Ann-Marie, Wells, Sara E, Grallert, Harald, Wurst, Wolfgang, Marschall, Susan, Fuchs, Helmut, Brown, Steve D M, Flenniken, Ann M, Nutter, Lauryl M J, McKerlie, Colin, Herault, Yann, Lloyd, K C Kent, Dickinson, Mary E, Gailus-Durner, Valerie, Hrabe de Angelis, Martin

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