Rezultati - Imelda Hughes

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  1. 1
    Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duchenne Muscular Dystrophy

    Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duche... od Valeria Ricotti, Stefan Spinty, Helen Roper, Imelda Hughes, Bina Tejura, Neil Robinson, Gary Layton, Kay E. Davies, Francesco Muntoni, Jonathon M. Tinsley

    Izdano 2016
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  2. 2
    British Thoracic Society guideline for respiratory management of children with neuromuscular weakness

    British Thoracic Society guideline for respiratory management of children with neuromuscular weakness od Jeremy Hull, Roona Aniapravan, Elaine Chan, Michelle Chatwin, Julian Forton, J. Gallagher, Neil Gibson, Jill Gordon, Imelda Hughes, Renée McCulloch, Robert Ross Russell, Anita K. Simonds

    Izdano 2012
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  3. 3
    Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

    Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease od Johanna Uusimaa, Heinz Jungbluth, Carl Fratter, Guido Crisponi, Longhua Feng, Massimo Zeviani, Imelda Hughes, Eileen P. Treacy, Jacqueline Birks, Grace Brown, Caroline A. Sewry, Michael McDermott, F. Muntoni, Joanna Poulton

    Izdano 2011
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  4. 4
    A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study

    A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study od Alan H. Beggs, Barry J. Byrne, S. de Chastonay, Tmirah Haselkorn, Imelda Hughes, Emma James, Nancy L. Kuntz, Jennifer Simon, Lindsay C. Swanson, Michele Yang, Zi‐Fan Yu, Sabrina W. Yum, Suyash Prasad

    Izdano 2017
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  5. 5
    Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain

    Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain od Nikki Cornell, Anne‐Marie Childs, Elizabeth Wraige, Pinki Munot, Gautam Ambegaonkar, Gabriel Chow, Imelda Hughes, Marjorie Illingworth, Anirban Majumdar, Chiara Marini‐Bettolo, Deepak Parasuraman, Stefan Spinty, Tracey Willis, Mariacristina Scoto, Giovanni Baranello

    Izdano 2024
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  6. 6
    The clinical utility of an <i>SCN1A</i> genetic diagnosis in infantile‐onset epilepsy

    The clinical utility of an <i>SCN1A</i> genetic diagnosis in infantile‐onset epilepsy od Andreas Brunklaus, Liam Dorris, Rachael Ellis, Eleanor Reavey, Elizabeth Lee, GORDON FORBES, Richard Appleton, J. Helen Cross, Colin D. Ferrie, Imelda Hughes, Alice Jollands, Mary D. King, John Livingston, Bryan Lynch, Sunny Philip, Ingrid E. Scheffer, Ruth Williams, Sameer M. Zuberi

    Izdano 2012
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  7. 7
    Recessive mutations in <i>MSTO1</i> cause mitochondrial dynamics impairment, leading to myopathy and ataxia

    Recessive mutations in <i>MSTO1</i> cause mitochondrial dynamics impairment, leading to myopathy and ataxia od Alessia Nasca, C. Scotton, Irina Zaharieva, Marcella Neri, Rita Selvatici, Ólafur Þ. Magnússon, Anikó Gál, David T. Weaver, Rachele Rossi, Annarita Armaroli, Marika Pane, Rahul Phadke, Anna Sárközy, Francesco Muntoni, Imelda Hughes, Antonella Cecconi, Gyӧrgy Hajnόczky, Alice Donati, Eugenio Mercuri, Massimo Zeviani, Alessandra Ferlini, Daniele Ghezzi

    Izdano 2017
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  8. 8
    Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

    Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) od Tracy A. Briggs, Ghada M. H. Abdel‐Salam, Maryagnes R. Balicki, Peter Baxter, Enrico Bertini, Nick Bishop, B H Browne, David Chitayat, W.K. Chong, Maha M. Eid, William Halliday, Imelda Hughes, A. Klusmann‐Koy, Mary Kurian, Ken K. Nischal, Gillian Rice, John B.P. Stephenson, R. Surtees, J F Talbot, Nasrin Tehrani, John Tolmie, Carmel Toomes, Marjo S. van der Knaap, Yanick J. Crow

    Izdano 2007
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  9. 9
    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders

    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders od Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder‐Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh Mordekar, Miranda Splitt, Peter D. Turnpenny, D.Z. Demetriou, Tamara T. Koopmann, Claudia Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Holder, Jessica A. Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian

    Izdano 2022
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  10. 10
    Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom

    Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom od Vasantha Gowda, Mark Atherton, Archana Murugan, Laurent Servais, Jennie Sheehan, Emma Standing, Adnan Manzur, Mariacristina Scoto, Giovanni Baranello, Pinki Munot, Gary McCullagh, Tracey Willis, Sandya Tirupathi, Iain Horrocks, Anil Dhawan, Michael Eyre, Maria Vanegas, Miguel Ángel Fernández-García, Amy Wolfe, Laura Pinches, Marjorie Illingworth, Marion Main, Lianne Abbott, Hayley Smith, Emily Milton, Sarah D’Urso, Kayal Vijayakumar, Silvia Sanchez Marco, Sinead Warner, Emily Reading, Isobel Douglas, Francesco Muntoni, Min Ong, Anirban Majumdar, Imelda Hughes, Heinz Jungbluth, Elizabeth Wraige

    Izdano 2023
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  11. 11
    MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

    MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load od Yi Shiau Ng, Nichola Z. Lax, Paul Maddison, Charlotte L. Alston, Emma L. Blakely, Philippa D. Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F. Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A. M. Morris, Smaragda Kamakari, Georgia Antonakou Chrousos, Richard J. Rodenburg, Christiaan G. J. Saris, Catherine Feeney, Steven Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G. Hanna, Akira Ohtake, Andrew M. Schaefer, Mike Champion, Douglass M. Turnbull, Robert W. Taylor, Robert D. S. Pitceathly, Robert McFarland, Gráinne S. Gorman

    Izdano 2018
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  12. 12
    Developing standardized corticosteroid treatment for Duchenne muscular dystrophy

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

    Izdano 2017
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  13. 13
    A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial

    A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial od Rebecca A. Crow, P. Morehart, Michael P. McDermott, Rabi Tawil, William B. Martens, Barbara E. Herr, Elaine McColl, Jennifer Wilkinson, Janbernd Kirschner, Wendy King, M. Eagle, Mary W. Brown, Deborah Hirtz, Hanns Lochmüller, Volker Straub, Emma Ciafaloni, Perry B. Shieh, Stefan Spinty, Anne-Marie Childs, Adnan Y. Manzur, Lucia Morandi, Russell J. Butterfield, Iain Horrocks, Helen Roper, Kevin M. Flanigan, Nancy L. Kuntz, Jean K. Mah, Leslie Morrison, Basil T. Darras, Maja von der Hagen, Ulrike Schara, Ekkehard Wilichowski, Tiziana Mongini, Craig M. McDonald, Giuseppe Vita, Richard J. Barohn, Richard S. Finkel, Matthew Wicklund, Hugh J. McMillan, Imelda Hughes, Elena Pegoraro, W. Bryan Burnette, James F. Howard, Mathula Thangarajh, Craig Campbell, Robert C. Griggs, Kate Bushby, Michela Guglieri

    Izdano 2018
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  14. 14
    Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

    Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 od A. Reghan Foley, Manoj P. Menezes, Amelie Pandraud, Michael Gonzalez, Ahmad Alodaib, Alexander J. Abrams, Kumiko Sugano, Atsushi Yonezawa, Adnan Y. Manzur, Joshua Burns, Imelda Hughes, B.G. McCullagh, Heinz Jungbluth, Ming Lim, Jean‐Pierre Lin, André Mégarbané, J. Andoni Urtizberea, Ayaz Shah, Jayne Antony, Richard Webster, Alexander Broomfield, Joanne Ng, Ann Agnes Mathew, James J. O’Byrne, Eva Forman, Mariacristina Scoto, Manish Prasad, Katherine O’Brien, S. E. Olpin, Marcus Oppenheim, Iain P. Hargreaves, John M. Land, Min X. Wang, Kevin Carpenter, Rita Horváth, Volker Straub, Monkol Lek, Wendy Gold, Michael O. Farrell, Sebastian Brandner, Rahul Phadke, Kazuo Matsubara, Michael L. McGarvey, Steven S. Scherer, Peter Baxter, Mary D. King, Peter T. Clayton, Shamima Rahman, Mary M. Reilly, Robert Ouvrier, John Christodoulou, Stephan Züchner, Francesco Muntoni, Henry Houlden

    Izdano 2013
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  15. 15
    Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

    Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts od Emma M. Jenkinson, Mathieu P. Rodero, Paul R. Kasher, Carolina Uggenti, Anthony Oojageer, Laurence Goosey, Y Rose, Christopher J. Kershaw, Jill Urquhart, Simon G. Williams, Sanjeev S. Bhaskar, James D.B. O’Sullivan, Gabriela M. Baerlocher, Monika Haubitz, Geraldine Aubert, Kristin Barañano, Angela Barnicoat, Roberta Battini, Andrea Berger, Edward Blair, Janice Brunstrom-Hernandez, Johannes Buckard, David Cassiman, Rosaline Caumes, Duccio Maria Cordelli, Liesbeth M De Waele, Alexander Fay, Patrick Ferreira, Nicholas Fletcher, Alan Fryer, Himanshu Goel, Cheryl Hemingway, Marco Henneke, Imelda Hughes, Rosalind J Jefferson, Ram Kumar, Lieven Lagae, P. Landrieu, Charles Marques Lourenço, Timothy J Malpas, Sarju Mehta, Imke Metz, SakkuBai Naidu, Katrin Õunap, Axel Panzer, Prab Prabhakar, Gerardine Quaghebeur, Raphael Schiffmann, Elliott H. Sherr, Kanaga R Sinnathuray, Calvin Soh, Helen Stewart, Jon Stone, Hilde Van Esch, Christine E G Van Mol, Adeline Vanderver, Emma Wakeling, Andrea Whitney, Graham D. Pavitt, Sam Griffiths‐Jones, Gillian Rice, Patrick Revy, Marjo S. van der Knaap, John H. Livingston, Raymond T. O’Keefe, Yanick J. Crow

    Izdano 2016
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  16. 16
    Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy

    Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy od Michela Guglieri, Kate Bushby, Michael McDermott, P. Morehart, Rabi Tawil, William B. Martens, Barbara E. Herr, Elaine McColl, Chris Speed, Jennifer Wilkinson, Janbernd Kirschner, Wendy King, Michelle Eagle, Mary W. Brown, Tracey Willis, Robert C. Griggs, Volker Straub, Henriette van Ruiten, Anne‐Marie Childs, Emma Ciafaloni, Perry B. Shieh, Stefan Spinty, Lorenzo Maggi, Giovanni Baranello, Russell J. Butterfield, Iain Horrocks, Helen Roper, Z. Alhaswani, Kevin M. Flanigan, Nancy L. Kuntz, Adnan Manzur, Basil T. Darras, Peter B. Kang, Leslie Morrison, Monika Krzesniak‐Swinarska, Jean K. Mah, Tiziana Mongini, Federica Ricci, Maja von der Hagen, Richard S. Finkel, Kathleen O’Reardon, Matthew Wicklund, Ashutosh Kumar, Craig M. McDonald, Jay J. Han, Nanette C. Joyce, Erik Henricson, Ulrike Schara‐Schmidt, Andrea Gangfuß, Ekkehard Wilichowski, Richard J. Barohn, Jeffrey Statland, Craig Campbell, Giuseppe Vita, Gian Luca Vita, James F. Howard, Imelda Hughes, Hugh J. McMillan, Elena Pegoraro, Luca Bello, W. Bryan Burnette, Mathula Thangarajh, Taeun Chang

    Izdano 2022
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  17. 17
    Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

    Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial od Craig M. McDonald, Craig Campbell, Ricardo Erazo Torricelli, Richard S. Finkel, Kevin M. Flanigan, Nathalie Goemans, Peter Heydemann, Anna Kamińska, Janbernd Kirschner, Francesco Muntoni, A. Nascimento Osorio, Ulrike Schara, Thomas Sejersen, Perry B. Shieh, H. Lee Sweeney, Haluk Topaloğlu, M. Tulinius, Juan J. Vílchez, Thomas Voït, Brenda Wong, Gary Elfring, Hans Kröger, Xiaohui Luo, Joseph McIntosh, Tuyen Ong, Peter Riebling, Marcio Ferreira de Souza, Robert J. Spiegel, Stuart W. Peltz, Eugenio Mercuri, Lindsay N. Alfano, Michelle Eagle, M. James, Linda Lowes, Anna Mayhew, Elena Mazzone, Leslie Nelson, Kristy Rose, Hoda Abdel‐Hamid, Susan Apkon, Richard J. Barohn, Enrico Bertini, Clemens Bloetzer, Lausanne Canton de Vaud, Russell J. Butterfield, B. Chabrol, Jong‐Hee Chae, Daehak-ro Jongno-gu, Giacomi Pietro Comi, Basil T. Darras, Jahannaz Dastgir, Isabelle Desguerre, Raúl G. Escobar, Erika Finanger, Michela Guglieri, Imelda Hughes, Susan T. Iannaccone, Kristi Jones, Peter Karachunski, Martin Kudr, Timothy Lotze, Jean K. Mah, Katherine D. Mathews, Yoram Nevo, Julie Parsons, Yann Péréon, Alexandra Prufer de Queiroz Campos Araújo, J. Ben Renfroe, Maria Bernadete Dutra de Resende, Monique M. Ryan, Kathryn Selby, Gihan Tennekoon, Giuseppe Vita

    Izdano 2017
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  18. 18
    Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy

    Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy od Jean K. Mah, Paula R. Clemens, Michela Guglieri, Edward C. Smith, Richard S. Finkel, M. Tulinius, Yoram Nevo, Monique M. Ryan, Richard Webster, Diana Castro, Nancy L. Kuntz, Craig M. McDonald, Jesse M. Damsker, Benjamin D. Schwartz, L. Mengle-Gaw, Stefan A. Jackowski, Georgia Stimpson, Deborah Ridout, Vandana Ayyar Gupta, Giovanni Baranello, Adnan Y. Manzur, Francesco Muntoni, Heather Gordish‐Dressman, Mika Leinonen, Leanne M. Ward, Eric P. Hoffman, Utkarsh J. Dang, Francesco Muntoni, Adnan Manzur, Giovanni Baranello, S. Robb, Rosaline C. M. Quinlivan, Anna Sárközy, Pinki Munot, Marion Main, Lianne Abbot, Volker Straub, Michela Guglieri, Chiara Bertolli, Anna Mayhew, Robert Muni‐Lofra, M. James, Jassi Sodhi, Deepak Parasuraman, Z. Alhaswani, Heather McMurchie, Rosanna Rabb, Anne‐Marie Childs, Karen Pysden, Lindsey Pallant, Tiffany Small, Stefan Spinty, R Madhu, Alison Shillington, Sarah Gregson, Elizabeth Wraige, Heinz Jungbluth, Vasantha Gowda, Jennie Sheehan, Imelda Hughes, Sinead Warner, Emily Davies, Tracey Willis, R. Kulshrestha, N. Emery, Kate Strachan, Min Ong, Kay White, Kate Skone, Frances Gibbon, Bethan Parsons, Anirban Majumdar, Kayal Vijaykumar, Faye Mason, Claire Frimpong-Ansah, Karen Naismith, Julie Burslem, Iain Horrocks, Marina Di Marco, Sarah M. Brown, Sarah Williamson, Kirstie Spencer, Gabby Chow, Christian de Goede, Andrea Selley, Neil Thomas, Marjorie Illingworth, Michelle Greary, Jenni Palmer, Cathy White, Kate Greenfield, Grainne Nic Fhirleinn, Melanie Douglas, Sandya Tiraputhi, Nahin Hussain, Yvonne Julien, Gautam Ambegaonkar, Deepa Krishnakumar, Jacqui Taylor, Jane Tewnion

    Izdano 2022
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  19. 19
    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias od Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr, Ivana A. Souza, Candace T. Myers, Betül Seher Uysal, Niklas Schwarz, María A. Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina Fagerberg, Kristina P. Soerensen, Maria Kibæk, Erik‐Jan Kamsteeg, David A. Koolen, Boudewijn Gunning, Helenius J. Schelhaas, Michael C. Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-López, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilgüvar, Antigone Papavasileiou, Qinghe Xing, Changlian Zhu, Katja Boysen, Filippo Pinto e Vairo, Brendan C. Lanpher, Eric W. Klee, Jan‐Mendelt Tillema, Eric T. Payne, Margot A. Cousin, Teresa Kruisselbrink, Myra J. Wick, Joshua Baker, Eric Haan, Nicholas Smith, Azita Sadeghpour, Erica E. Davis, Nicholas Katsanis, Mark Corbett, Alastair H. MacLennan, Jozef Gécz, Saskia Biskup, Eva Goldmann, Lance H. Rodan, Elizabeth Kichula, Eric Segal, Kelly E. Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D. Botto, Francis Filloux, Tatiana Tvrdik, Gregory D. Cascino, Sherry Klingerman, Catherine M. Neumann, Raymond Wang, Jessie C. Jacobsen, Melinda Nolan, Russell G. Snell, Klaus Lehnert, Lynette G. Sadleir, Britt‐Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J. Friez, Michael J. Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle Moufawad El Achkar, Lacey Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis‐Juan, Keren Carss, Julia Rankin, Adam Zeman, F. Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka, Ulrike B. S. Hedrich, Ingrid E. Scheffer

    Izdano 2018
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