Результати пошуку - Karen Pysden

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  1. 1
    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 за авторством 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

    Опубліковано 2016
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  2. 2
    Neurological Manifestations of Influenza Infection in Children and Adults: Results of a National British Surveillance Study

    Neurological Manifestations of Influenza Infection in Children and Adults: Results of a National British Surveillance Study за авторством Anu Goenka, Benedict Michael, Elizabeth Ledger, Ian Hart, Michael Absoud, Gabriel Chow, James B Lilleker, Michael P. Lunn, David McKee, Deirdre Peake, Karen Pysden, Mark Roberts, Enitan D. Carrol, Ming Lim, Shivaram Avula, Tom Solomon, Rachel Kneen

    Опубліковано 2013
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  3. 3
    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 за авторством 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

    Опубліковано 2016
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  4. 4
    The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications

    The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications за авторством Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela Adela Vințan, Joseph D. Symonds, James E. Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaëtan Lesca, Stewart Macleod, Dragan Marjanović, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Pérez‐Palma, Μ. Scott Perry, Karen Pysden, Sophie Russ-Hall, Ingrid E. Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly K. Weiss, Elaine Wirrell, Sameer M. Zuberi, Dennis Lal, Rikke S. Møller, Massimo Mantegazza, Sandrine Cestèle

    Опубліковано 2022
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  5. 5
    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 за авторством 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

    Опубліковано 2013
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  6. 6
    Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

    Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy за авторством Christine P. Diggle, Stacey J. Sukoff Rizzo, Michael Popiolek, Reetta Hinttala, Jan-Philip Schülke, Manju A. Kurian, Ian Carr, Alexander F. Markham, David T. Bonthron, Christopher M. Watson, Saghira Malik Sharif, Veronica Reinhart, Larry C. James, Michelle Vanase‐Frawley, Erik I. Charych, Melanie Allen, John F. Harms, Christopher J. Schmidt, Joanne Ng, Karen Pysden, Christine A. Strick, Päivi Vieira, Katariina Mankinen, Hannaleena Kokkonen, Matti Kallioinen, Raija Sormunen, Juha O. Rinne, Jarkko Johansson, Kati Alakurtti, Laura Huilaja, Tiina Hurskainen, Kaisa Tasanen, Eija Anttila, Tiago Reis Marques, Oliver Howes, Marius Politis, Somayyeh Fahiminiya, Khanh Q. Nguyen, Jacek Majewski, Johanna Uusimaa, Eamonn Sheridan, Nicholas J. Brandon

    Опубліковано 2016
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  7. 7
    Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study

    Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study за авторством Stephen Ray, Omar Abdel‐Mannan, Mário Sá, Charlotte Fuller, Greta K. Wood, Karen Pysden, Michael Yoong, Helen McCullagh, David L. Scott, Martin J. McMahon, Naomi Thomas, Micheal Taylor, Marjorie Illingworth, Nadine McCrea, Victoria Davies, William Whitehouse, Sameer M. Zuberi, Keira Guthrie, Evangeline Wassmer, Nikit Shah, Mark R. Baker, Sangeeta Tiwary, Hui Jeen Tan, Uma Varma, Dipak Ram, Shivaram Avula, Noelle Enright, Jane Hassell, Amy Russell, Ram Kumar, Rachel E. Mulholland, Sarah Pett, Ian Galea, Rhys H. Thomas, Laura Benjamin, Ming Lim, Yael Hacohen, Tom Solomon, Mike Griffiths, Benedict Michael, Rachel Kneen, Gerome Breen, Hannah Castell, Ceryce Collie, Lilly George, Monika Hartmann, Marc Henrion, Maria Kinali, Christina Petropoulos, Sithara Ramdas, Victoria Vlachou, Brigitte Vollmer, Bethany Facer, Cordelia Dunai, Laura Benjamin

    Опубліковано 2021
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  8. 8
    Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy

    Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy за авторством 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

    Опубліковано 2022
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