Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Imelda Hughes"'
Autor:
Rebecca A. Crow, Kimberly A. Hart, Michael P. McDermott, Rabi Tawil, William B. Martens, Barbara E. Herr, Elaine McColl, Jennifer Wilkinson, Janbernd Kirschner, Wendy M. King, Michele Eagle, Mary W. Brown, Deborah Hirtz, Hanns Lochmuller, 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
Publikováno v:
Trials, Vol 19, Iss 1, Pp 1-9 (2018)
Abstract Background Trials in rare diseases have many challenges, among which are the need to set up multiple sites in different countries to achieve recruitment targets and the divergent landscape of clinical trial regulations in those countries. Ov
Externí odkaz:
https://doaj.org/article/59fc2ba5f36543fab1efe37a189c7b3f
Autor:
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. Morris, Smaragda Kamakari, Georgia Chrousos, Richard J. Rodenburg, Christiaan G.J. Saris, Catherine Feeney, Steven A. Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G. Hanna, Akira Ohtake, Andrew M. Schaefer, Mike P. Champion, Doug M. Turnbull, Robert W. Taylor, Robert D.S. Pitceathly, Robert McFarland, Gráinne S. Gorman
Publikováno v:
EBioMedicine, Vol 30, Iss , Pp 86-93 (2018)
Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carri
Externí odkaz:
https://doaj.org/article/3670bb9d88df4ad19193530872b41183
Autor:
Valeria Ricotti, Stefan Spinty, Helen Roper, Imelda Hughes, Bina Tejura, Neil Robinson, Gary Layton, Kay Davies, Francesco Muntoni, Jonathon Tinsley
Publikováno v:
PLoS ONE, Vol 11, Iss 4, p e0152840 (2016)
PurposeSMT C1100 is a utrophin modulator being evaluated as a treatment for Duchenne muscular dystrophy (DMD). This study, the first in pediatric DMD patients, reports the safety, tolerability and PK parameters of single and multiple doses of SMT C11
Externí odkaz:
https://doaj.org/article/907bfda7a67e4a768b96b7b1da6275b1
Autor:
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 R. Mordekar, Miranda Splitt, Peter D. Turnpenny, Demetria Demetriou, Tamara T. Koopmann, Claudia A.L. Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Elizabeth Holder, Jessica Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian
Publikováno v:
Neurology, 99(14), E1511-E1526. LIPPINCOTT WILLIAMS & WILKINS
Background and ObjectivesATP1A3 is associated with a broad spectrum of predominantly neurologic disorders, which continues to expand beyond the initially defined phenotypes of alternating hemiplegia of childhood, rapid-onset dystonia parkinsonism, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e23883a196d3c5ae16dc2de06f170846
https://hdl.handle.net/1887/3562155
https://hdl.handle.net/1887/3562155
Autor:
Manish Prasad, Christian de Goede, Declan O'Rourke, Tracey Willis, Sandya Tirupathi, Imelda Hughes, Samira Saberian, Anne-Marie Childs, Deepak Parasuraman, Vasantha Gowda, Ian Davidson, Miguel Fernandez
Publikováno v:
Archives of Disease in Childhood
Objective To describe age and time at key stages in the Duchenne muscular dystrophy (DMD) prediagnosis pathway at selected centres to identify opportunities for service improvement. Design A multicentre retrospective national audit. Setting Nine tert
Autor:
Alistair T. Pagnamenta, Jenny C. Taylor, Pinki Munot, Adnan Y. Manzur, Mathew Pitt, Jacqueline Palace, Pedro M. Rodríguez Cruz, Imelda Hughes, David Beeson, Sithara Ramdas, Catherine Breen, Ronnie Wright
Publikováno v:
Neuromuscular Disorders. 31:21-28
SLC5A7 encodes the presynaptic sodium-dependant high-affinity choline transporter 1 (CHT), which uptakes choline to the presynaptic nerve terminal following the breakdown of acetylcholine by the acetylcholinesterase within the synaptic cleft. We repo
Autor:
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 R, Mordekar, Miranda, Splitt, Peter D, Turnpenny, Demetria, Demetriou, Tamara T, Koopmann, Claudia A L, Ruivenkamp, Pankaj B, Agrawal, Lucinda, Carr, Virginia, Clowes, Neeti, Ghali, Susan Elizabeth, Holder, Jessica, Radley, Alison, Male, Sanjay M, Sisodiya, Manju A, Kurian, J Helen, Cross, Meena, Balasubramanian
Publikováno v:
Neurology. 99(14)
Undiagnosed individuals withTwenty-four individuals with a previously undiagnosed neurologic phenotype were found to carry 21Our study shows that looking for a combination of paroxysmal events, hyperkinesia, neuropsychiatric symptoms, and cognitive i
Autor:
Perry B Shieh, Gary Elfring, Panayiota Trifillis, Claudio Santos, Stuart W Peltz, Julie A Parsons, Susan Apkon, Basil T Darras, Craig Campbell, Craig M McDonald, Richard J Barohn, Enrico Bertini, Kate Bushby, Brigitte Chabrol, Emma Ciafaloni, Jaume Columer, Giacomi Pietro Comi, Anne Connolly, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Michela Guglieri, Susan T Iannaccone, Kristi J Jones, Petra Kaufmann, Janbernd Kirschner, Jean K Mah, Katherine Mathews, Eugenio Mercuri, Francesco Muntoni, Yoram Nevo, Andrés Nascimento Osorio, Yann Péréon, Rosaline Quinlivan, J. Ben Renfroe, Barry Russman, Monique Ryan, Jacinda Sampson, Ulrike Schara, Kathryn Selby, Thomas Sejersen, Douglas M Sproule, H. Lee Sweeney, Már Tulinius, Juan J Vilchez, Giuseppe Vita, Thomas Voit, Stephanie Burns-Wechsler, Brenda Wong, Ted Abresch, Erik K Henricson, Kim Coleman, Michelle Eagle, Julaine Florence, Ed Gappmaier, Craig McDonald, Hoda Z Abdel-Hamid, Clemens Bloetzer, Russell J Butterfield, Jong-Hee Chae, Jahannaz Dastgir, Isabelle Desguerre, Raul G Escobar, Erika Finanger, Peter Heydemann, Imelda Hughes, Anna Kaminska, Peter Karachunski, Martin Kudr, Timothy Lotze, Alexandra Prufer de Queiroz Campos Araujo, Maria Bernadete Dutra de Resende, Gihan Tennekoon, Haluk Topaloglu, Ricardo Erazo Torricelli, Lindsay N Alfano, Meredith K James, Linda Lowes, Anna Mayhew, Elena S Mazzone, Leslie Nelson, Kristy J Rose
Publikováno v:
Paediatrics Publications
Aim: Compare efficacies of deflazacort and prednisone/prednisolone in providing clinically meaningful delays in loss of physical milestones in patients with nonsense mutation Duchenne muscular dystrophy. Materials & methods: Placebo data from Phase I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e773db882a9b68ac18148646fe6a8d7
https://ir.lib.uwo.ca/context/paedpub/article/3206/viewcontent/843.pdf
https://ir.lib.uwo.ca/context/paedpub/article/3206/viewcontent/843.pdf
Autor:
Francesco Muntoni, Stefan Spinty, Gary Layton, Imelda Hughes, Kay E. Davies, Bina Tejura, Jonathon M. Tinsley, Helen Roper, Shawn Harriman
Publikováno v:
Clinical Pharmacology in Drug Development. 8:922-933
Ezutromid (SMT C1100) is a small-molecule utrophin modulator that was developed to treat Duchenne muscular dystrophy (DMD). Previous clinical trials of this agent revealed lower exposure in DMD patients compared with healthy volunteers, which may ref
Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis
Autor:
Barry J. Byrne, Salvador Rico, Laurie B LaRusso, Sabrina W. Yum, Tmirah Haselkorn, Michele L. Yang, Suyash Prasad, Imelda Hughes, Alan H. Beggs, Nancy L. Kuntz, Francesco Muntoni, Rachel Alvarez, Casie A. Genetti, M. Noursalehi, Robert J. Graham, Emma James
Publikováno v:
Archives of disease in childhood
PurposeIndividuals with X-linked myotubular myopathy (XLMTM) who survive infancy require extensive supportive care, including ventilator assistance, wheelchairs and feeding tubes. Half die before 18 months of age. We explored respiratory support and