Kết quả tìm kiếm - Anne‐Marie Childs

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  1. 1
    Intralabyrinthine Schwannomas: Imaging Diagnosis and Classification

    Intralabyrinthine Schwannomas: Imaging Diagnosis and Classification Bằng Karen L. Salzman, Anne‐Marie Childs, H. Christian Davidson, Richard Kennedy, Clough Shelton, H R Harnsberger

    Được phát hành 2011
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    Artigo
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  2. 2
    Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

    Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54 Bằng Peter Green, Matthew Wiseman, Yanick J. Crow, Henry Houlden, Shelley Riphagen, Jean‐Pierre Lin, F. Lucy Raymond, Anne-Marie Childs, Eamonn Sheridan, Sian Edwards, Dragana Josifova

    Được phát hành 2010
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    Artigo
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  3. 3
    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 Bằng 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

    Được phát hành 2024
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    Artigo
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  4. 4
    PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease

    PLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease Bằng Marjorie Illingworth, Esther Meyer, W.K. Chong, Adnan Y. Manzur, Lucinda Carr, R. T. Younis, C Hardy, Fiona McDonald, Anne Marie Childs, Bruce H. Stewart, Daniel Warren, Rachel Kneen, Marissa King, Susan J. Hayflick, Manju A. Kurian

    Được phát hành 2014
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    Artigo
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  5. 5
    Homozygous deletion in <i>MICU1</i> presenting with fatigue and lethargy in childhood

    Homozygous deletion in <i>MICU1</i> presenting with fatigue and lethargy in childhood Bằng David Lewis‐Smith, Kimberli J. Kamer, Helen Griffin, Anne‐Marie Childs, Karen Pysden, Denis V. Titov, Jennifer Duff, Angela Pyle, Robert W. Taylor, Patrick Yu‐Wai‐Man, Venkateswaran Ramesh, Rita Horváth, Vamsi K. Mootha, Patrick F. Chinnery

    Được phát hành 2016
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  6. 6
    A Comparative Study of α‐Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α‐Dystroglycan Does Not Consistently Correlate with Clinical Severity

    A Comparative Study of α‐Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α‐Dystroglycan Does Not Consistently Correlate with Clinical Seve... Bằng C. Jimenez‐Mallebrera, Silvia Torelli, Lucy Feng, Jihee Kim, Caroline Godfrey, Emma Clement, R. Mein, Stephen Abbs, S. Brown, Kevin P. Campbell, Stephan Kröger, Beril Talim, Haluk Topaloğlu, Rosaline C. M. Quinlivan, Helen Roper, Anne Marie Childs, Maria Kinali, Caroline A. Sewry, Francesco Muntoni

    Được phát hành 2008
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    Artigo
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  7. 7
    Safety and efficacy of tamoxifen in non-ambulant patients with Duchenne muscular dystrophy: a multicentre, randomised, double–blind, placebo–controlled, phase 3 trial (TAMDMD Group B)

    Safety and efficacy of tamoxifen in non-ambulant patients with Duchenne muscular dystrophy: a multicentre, randomised, double–blind, placebo–controlled, phase 3 trial (TAMDMD Group... Bằng Bettina Henzi, Niveditha Putananickal, Simone Schmidt, Sara Nagy, Daniela Rubino-Nacht, Sabine Schaedelin, Helge Amthor, Anne‐Marie Childs, Nicolas Deconinck, Iain Horrocks, S. Houwen-van Opstal, Vincent Laugel, Mercedes López Lobato, A. Nascimento Osorio, Ulrike Schara‐Schmidt, Stefan Spinty, Arpad von Moers, Fiona Lawrence, Patricia Hafner, O.M. Dorchies, Dirk Fischer

    Được phát hành 2025
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    Artigo
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  8. 8
    CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

    CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies Bằng R. Scalco, A. Gardiner, Robert D. S. Pitceathly, David Hilton‐Jones, Anthony H.V. Schapira, Chris Turner, Matt Parton, M. Desikan, Rita Barresi, Julie Marsh, Adnan Y. Manzur, Anne‐Marie Childs, Lucy Feng, Elaine Murphy, Phillipa J. Lamont, Gianina Ravenscroft, William Wallefeld, Mark R. Davis, Nigel G. Laing, Janice L. Holton, Doreen Fialho, Kate Bushby, Michael G. Hanna, Rahul Phadke, Heinz Jungbluth, Henry Houlden, Rosaline C. M. Quinlivan

    Được phát hành 2016
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    Artigo
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  9. 9
    Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study

    Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study Bằng Federica Trucco, Deborah Ridout, Mariacristina Scoto, Giorgia Coratti, Marion Main, Robert Muni Lofra, Anna Mayhew, Jacqueline Montes, Marika Pane, Valeria Sansone, Emilio Albamonte, Adele D’Amico, Enrico Bertini, Sonia Messina, Claudio Bruno, Deepak Parasuraman, Anne‐Marie Childs, Vasantha Gowda, Tracey Willis, Min Ong, Chiara Marini‐Bettolo, Darryl C. De Vivo, Basil T. Darras, John Day, Elizabeth Kichula, Oscar H. Mayer, Aledie Navas-Nazario, Richard S. Finkel, Eugenio Mercuri, Francesco Muntoni

    Được phát hành 2020
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    Artigo
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  10. 10
    The clinical, biochemical and genetic features associated with<i>RMND1</i>-related mitochondrial disease

    The clinical, biochemical and genetic features associated with<i>RMND1</i>-related mitochondrial disease Bằng Yi Shiau Ng, Charlotte L. Alston, Daria Diodato, Andrew A. M. Morris, Nicole Ulrick, Stanislav Kmoch, J Houštěk, Diego Martinelli, Alireza Haghighi, Mehnaz Atiq, Montserrat Antón-Gamero, Elena García‐Martínez, Hana Kratochvílová, Saikat Santra, Ruth M. Brown, Garry K. Brown, Nicola Ragge, Ahmad Monavari, Karen Pysden, Kirstine Ravn, Jillian P. Casey, Arif Khan, Anupam Chakrapani, Grace Vassallo, Cas Simons, Karl McKeever, Siobhán O’Sullivan, Anne-Marie Childs, Elsebet Østergaard, Adeline Vanderver, Amy B. Goldstein, Julie Vogt, Robert W. Taylor, Robert McFarland

    Được phát hành 2016
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    Artigo
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  11. 11
    Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

    Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling Bằng Clare V. Logan, György Szabadkai, Jenny A. Sharpe, David Parry, Silvia Torelli, Anne‐Marie Childs, Marjolein Kriek, Rahul Phadke, Colin A. Johnson, Nicola Roberts, David T. Bonthron, Karen Pysden, Tamieka Whyte, Iulia Munteanu, A. Reghan Foley, Gabrielle Wheway, Katarzyna Szymańska, Subaashini Natarajan, Zakia A. Abdelhamed, Joanne Morgan, H. Roper, Gijs W.E. Santen, Erik H. Niks, W. Ludo van der Pol, Dick Lindhout, Anna Raffaello, Diego De Stefani, Johan T. den Dunnen, Yu Sun, Ieke B. Ginjaar, Caroline A. Sewry, Matthew E. Hurles, Rosario Rizzuto, Michael R. Duchen, Francesco Muntoni, Eamonn Sheridan

    Được phát hành 2013
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  12. 12
    Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2

    Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2 Bằng Derek Neilson, Mark D. Adams, Caitlin M.D. Orr, Deborah K. Schelling, Robert M. Eiben, Douglas S. Kerr, Jane Anderson, Alexander G. Bassuk, Ann Bye, Anne-Marie Childs, Antonia Clarke, Yanick J. Crow, Maja Di Rocco, Christian Dohna‐Schwake, Gregor Dueckers, Alfonso Fasano, Artemis Gika, Dimitris Gionnis, Mark Gorman, Padraic J. Grattan‐Smith, Annette Hackenberg, Alice Kuster, Markus Lentschig, Eduardo López‐Laso, Elysa J. Marco, Sotiria Mastroyianni, Julie Perrier, Thomas Schmitt‐Mechelke, Serenella Servidei, Angeliki Skardoutsou, Peter Uldall, Marjo S. van der Knaap, Karrie Goglin, David L. Tefft, Cristin Aubin, Philip L. De Jager, David A. Hafler, Matthew L. Warman

    Được phát hành 2009
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    Artigo
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  13. 13
    Developing standardized corticosteroid treatment for Duchenne muscular dystrophy

    Developing standardized corticosteroid treatment for Duchenne muscular dystrophy Bằng 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

    Được phát hành 2017
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  14. 14
    The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

    The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction Bằng Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, Frédérique Bonnet‐Brilhault, Yana Hoorne, Shelagh Joss, Anna Chassevent, Constance Smith‐Hicks, Bart Loeys, Pascal Joset, Katharina Steindl, Anita Rauch, Sarju Mehta, Wendy K. Chung, Koenraad Devriendt, Susan Holder, Tamison Jewett, Lauren M. Baldwin, William G. Wilson, Shelley Towner, Siddharth Srivastava, Hannah Johnson, Cornelia Daumer‐Haas, Martina Baethmann, Anna Ruiz, Elisabeth Gabau, Vani Jain, Vinod Varghese, Ali Said Al-Beshri, Stephen P. Fulton, Oded Wechsberg, Naama Orenstein, Katrina Prescott, Anne-Marie Childs, Laurence Faivre, Sébastien Moutton, Jennifer A. Sullivan, Vandana Shashi, Suzanne M. Koudijs, Malou Heijligers, Emma Kivuva, Amy McTague, Alison Male, Yvette van Ierland, Barbara Plecko, Isabelle Maystadt, Rizwan Hamid, Vickie Hannig, Gunnar Houge, Veerle Janssens

    Được phát hành 2020
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  15. 15
    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 Bằng 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

    Được phát hành 2018
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    Revisão
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  16. 16
    Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy

    Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy Bằng Michela Guglieri, Paula R. Clemens, Seth J. Perlman, Edward C. Smith, Iain Horrocks, Richard S. Finkel, Jean K. Mah, Nicolas Deconinck, Nathalie Goemans, Jana Haberlová, Volker Straub, L. Mengle-Gaw, Benjamin D. Schwartz, Amy D. Harper, Perry B. Shieh, Liesbeth De Waele, Diana Castro, Michelle Yang, Monique M. Ryan, Craig M. McDonald, M. Tulinius, Richard Webster, Hugh J. McMillan, Nancy L. Kuntz, Vashmi K. Rao, Giovanni Baranello, Stefan Spinty, Anne‐Marie Childs, Annie M. Sbrocchi, Kathryn Selby, Migvis Monduy, Yoram Nevo, Juan J. Vílchez, Andres Nascimento-Osorio, Erik H. Niks, Imelda J. M. de Groot, Marina Katsalouli, M. James, John van den Anker, Jesse M. Damsker, Alexandra Ahmet, Leanne M. Ward, Mark Jaros, Phil Shale, Utkarsh J. Dang, Eric P. Hoffman

    Được phát hành 2022
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  17. 17
    Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy

    Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy Bằng Utkarsh J. Dang, Jesse M. Damsker, Michela Guglieri, Paula R. Clemens, Seth J. Perlman, Edward C. Smith, Iain Horrocks, Richard S. Finkel, Jean K. Mah, Nicolas Deconinck, Nathalie Goemans, Jana Haberlová, Volker Straub, L. Mengle-Gaw, Benjamin D. Schwartz, Amy Harper, Perry B. Shieh, Liesbeth De Waele, Diana Castro, Michele Yang, Monique M. Ryan, Craig M. McDonald, M. Tulinius, Richard Webster, Hugh J. McMillan, Nancy L. Kuntz, Vamshi K. Rao, Giovanni Baranello, Stefan Spinty, Anne‐Marie Childs, Annie M. Sbrocchi, Kathryn Selby, Migvis Monduy, Yoram Nevo, Juan J. Vílchez, Andres Nascimento-Osorio, Erik H. Niks, Imelda J. M. de Groot, Marina Katsalouli, John N. van den Anker, Leanne M. Ward, Mika Leinonen, Andrea L. D'Alessandro, Eric P. Hoffman

    Được phát hành 2024
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    Artigo
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  18. 18
    Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI

    Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI Bằng José Verdú-Díaz, C. Bolano-Díaz, A. Gonzalez-Chamorro, S Fitzsimmons, Jodi Warman‐Chardon, Goknur Selen Kocak, Debora Mucida‐Alvim, Ian C. P. Smith, John Vissing, Nanna Scharff Poulsen, Sushan Luo, Cristina Domínguez‐González, Laura Bermejo‐Guerrero, David Gómez‐Andrés, J. Sotoca, Anna Pichiecchio, Silvia Nicolosi, Mauro Monforte, Claudia Brogna, Eugenio Mercuri, Jorge A. Bevilacqua, Jorge Díaz‐Jara, Benjamín Pizarro‐Galleguillos, Peter Krkoška, Jorge Alonso‐Pérez, Montse Olivé, Erik H. Niks, Hermien E. Kan, James B Lilleker, Mark Roberts, Bianca Buchignani, Jin‐Hong Shin, Florence Esselin, Emmanuelle Le Bars, Anne Marie Childs, Edoardo Malfatti, Anna Sárközy, Luke Perry, Sniya Sudhakar, Edmar Zanoteli, Filipe Tupinamba Di Pace, Emma Matthews, Shahram Attarian, David Bendahan, Matteo Garibaldi, Laura Fionda, Alicia Alonso‐Jiménez, Robert Carlier, Ali Asghar Okhovat, Shahriar Nafissi, Atchayaram Nalini, Seena Vengalil, Kieren G. Hollingsworth, Chiara Marini‐Bettolo, Volker Straub, Giorgio Tasca, Jaume Bacardit, Jordi Díaz‐Manera

    Được phát hành 2025
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    Artigo
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  19. 19
    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 Bằng 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

    Được phát hành 2022
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    Artigo
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  20. 20
    Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): a national observational study

    Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): a national observational study Bằng Lucinda Teoh, Ameenat Lola Solebo, Jugnoo S. Rahi, Joe Abbott, Wajda Abdullah, Gill Adams, Louise Allen, Christopher M. Anderson, Karen Ansell, Samira Anwar, Isabel M Ash, Jane Ashworth, Sher A. Aslam, Majunath Astagi, Colin Ball, Rajesh Balu, Victoria Barrett, Z. Bassi, Adam Bates, Dushyant Batra, Sarah Bell, Linda Belmour, James Benzimra, Ginny Birrell, Susmito Biswas, Andrew Blaikie, M S J Blundell, Kate Bolton, Ewoud Bos, Pamela G. Bowen, Richard Bowman, Natalie Boyle, John Bradbury, Maria Bredow, Marsel Bregu, Nicholas Brennan, Rosie Brennan, Paul Brittain, Charles Buchanan, Catey Bunce, Howard Bunting, Priscilla Burgess, Cathie Burke, Alexandra Kate Bush, Jeremy Butcher, Lucilla Butler, Clare Cane, Cathryn Chadwick, Ruth Charlton, Anne‐Marie Childs, Jessy Choi, Vivi Choleva, A Churchill, Michael W. Clarke, Peter Clayton, Luke Clifford, Alan Connor, Rachel Cox, Lyn Cresswell, Annegret Dahlmann‐Noor, Angela D’Amore, Mehul Dattani, Fiona Dean, Anita Devlin, Luna Dhir, Cora Doherty, S E Dorey, Fiona Drimmie, Tina Duke, Gordon N. Dutton, F.B. Eaton, Megan Eaton, Danielle Eckersley, Clive Edelsten, Rachel Elderkin, Julia Ennis, J A Escardó-Paton, Ziad Estephen, Onajite Etuwewe, Anthony Evans, Adjoa Ezekwe, Jenny Fairfield, Kevin Falzon, Allison Ferguson, Brian W. Fleck, Mary Gainsborough, Alexandra Galloway, Naomi Gerson-Sofer, Caspar Gibbon, Patricia Gibson, Kevin C. W. Goss, Katherine Graham-Evans, Judith Gray, Anna Gregory, Arun Gulati, Deniz Gurtin-Zorkun, Emma Guy, Diab Haddad, Helen R. Haggerty, P M Haigh

    Được phát hành 2021
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    Artigo
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