Search Results - Grace Vassallo

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  1. 1
    The long road back to physical activity: the experience of people with moderate-to-severe traumatic brain injury

    The long road back to physical activity: the experience of people with moderate-to-severe traumatic brain injury by Abby Haynes, Liam Johnson, Rhys Ashpole, Aman Mamo, Sakina Chagpar, Gavin Williams, Kelly Clanchy, Nicole Waters, Grace Vassallo, Adam Scheinberg, Catherine Sherrington, Sean Tweedy, Kerry West, Leanne Hassett

    Published 2025
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  2. 2
    Clinical features of childhood‐onset paroxysmal kinesigenic dyskinesia with <scp><i>PRRT</i></scp><i>2</i> gene mutations

    Clinical features of childhood‐onset paroxysmal kinesigenic dyskinesia with <scp><i>PRRT</i></scp><i>2</i> gene mutations by Laura Silveira‐Moriyama, A. Gardiner, Esther Meyer, Mary D. King, Martin A. Smith, Karl Rakshi, Alasdair Parker, Andrew A. Mallick, R. Malcolm Brown, Grace Vassallo, Philip Jardine, Marilisa M. Guerreiro, Andrew Lees, Henry Houlden, Manju A. Kurian

    Published 2013
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  3. 3
    Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya

    Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya by Sara Tho-Calvi, Dominic Thompson, Dawn E. Saunders, Shakti Agrawal, Anna Basu, Manali Chitre, Gabriel Chow, Frances Gibbon, Anthony R Hart, Krishnaraya Kamath Tallur, Fenella J. Kirkham, Rachel Kneen, Helen McCullagh, Leena Mewasingh, Grace Vassallo, Kayal Vijayakumar, Elizabeth Wraige, Tong Hong Yeo, Vijeya Ganesan, Shakti Agrawal, Anna Basu, Manali Chitre, Gabriel Chow, Frances Gibbon, Anthony R Hart, Krishnaraya Kamath Tallur, Fenella J. Kirkham, Rachel Kneen, Helen McCullagh, Leena Mewasingh, Grace Vassallo, Kayal Vijayakumar, Elizabeth Wraige, Tong Hong Yeo

    Published 2018
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  4. 4
    Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

    Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy by Manju A. Kurian, Esther Meyer, Grace Vassallo, Neil V. Morgan, Nandhini Prakash, Shanaz Pasha, Nebula A. Hai, Salwati Shuib, Fatima Rahman, Evangeline Wassmer, J. Helen Cross, Finbar O’Callaghan, John Osborne, Ingrid E. Scheffer, Paul Gissen, Eamonn R. Maher

    Published 2010
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  5. 5
    Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency

    Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency by Siddharth Banka, Henk J. Blom, John H. Walter, Majid Aziz, Jill Urquhart, Christopher M. Clouthier, Gillian Rice, Arjan P.M. de Brouwer, Emma Hilton, Grace Vassallo, Andrew Will, Desirée E.C. Smith, Yvo M. Smulders, Ron A. Wevers, Robert Steinfeld, Simon Heales, Yanick J. Crow, Joelle N. Pelletier, Simon Jones, William G. Newman

    Published 2011
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  6. 6
    Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

    Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing by D. Gareth Evans, Claire Hartley, Philip Smith, Andrew T. King, Naomi L. Bowers, Simon Tobi, Andrew Wallace, Mary Perry, Raji Anup, Simon Lloyd, Scott Rutherford, Charlotte Hammerbeck-Ward, Omar Pathmanaban, Emma Stapleton, Simon Freeman, Mark Kellett, Dorothy Halliday, Allyson Parry, Juliette Gair, Patrick Axon, Roger Laitt, Owen Thomas, Shazia Afridi, Rupert Obholzer, Chris Duff, Stavros Stivaros, Grace Vassallo, Elaine F. Harkness, Miriam J. Smith

    Published 2019
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  7. 7
    Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

    Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies by Robert W. Taylor, Angela Pyle, Helen Griffin, Emma L. Blakely, Jennifer Duff, Langping He, Tania Smertenko, Charlotte L. Alston, Vivienne C. M. Neeve, Andrew Best, John W. Yarham, Janbernd Kirschner, Ulrike Schara, Beril Talim, Haluk Topaloğlu, Ivo Barić, Elke Holinski‐Feder, Angela Abicht, Birgit Czermin, Stephanie Kleinle, Andrew A. M. Morris, Grace Vassallo, Gráinne S. Gorman, Venkateswaran Ramesh, Douglass M. Turnbull, Mauro Santibanez‐Koref, Robert McFarland, Rita Horváth, Patrick F. Chinnery

    Published 2014
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  8. 8
    Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

    Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures by Shan Tang, Laura Addis, Anna Smith, Simon Topp, Manuela Pendziwiat, Davide Mei, Alasdair Parker, Shakti Agrawal, Elaine Hughes, Karine Lascelles, Ruth Williams, Penny Fallon, Robert Robinson, J. Helen Cross, Tammy Hedderly, Christin Eltze, Tim Kerr, Archana Desurkar, Nahin Hussain, Maria Kinali, Irene Bagnasco, Grace Vassallo, William Whitehouse, Sushma Goyal, Michael Absoud, Rikke S. Møller, Ingo Helbig, Yvonne G. Weber, Carla Marini, Renzo Guerrini, Michael A. Simpson, Deb K. Pal

    Published 2020
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  9. 9
    Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

    Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures by Tommy Stödberg, Amy McTague, Arnaud Ruiz, Hiromi Hirata, Juan Zhen, Philip Long, Irene Farabella, Esther Meyer, Atsuo Kawahara, Grace Vassallo, Stavros Stivaros, Magnus Bjursell, Henrik Stranneheim, Stephanie Tigerschiöld, Bengt Persson, I. Hussain Bangash, Krishna B. Das, Deborah Hughes, Nicole Lesko, Joakim Lundeberg, Rod C. Scott, Annapurna Poduri, Ingrid E. Scheffer, Holly Smith, Paul Gissen, Stéphanie Schorge, Maarten E. A. Reith, Maya Topf, Dimitri M. Kullmann, Victoria L. Harvey, Anna Wedell, Manju A. Kurian

    Published 2015
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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 by 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

    Published 2016
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  11. 11
    Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1

    Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1 by Jannath Begum Ali, Luke Mason, Tony Charman, Mark H. Johnson, Jonathan Green, Shruti Garg, Emily J. Jones, Mary Agyapong, Tessel Bazelmans, Leila Dafner, Mutluhan Ersoy, Teodora Gliga, Amy Goodwin, Rianne Haartsen, Hanna Halkola, Alexandra Hendry, Rebecca Holman, Sarah Kalwarowsky, Anna Kolesnik, Sarah Lloyd‐Fox, Nisha Narvekar, Laura Pirazzoli, Chloë Taylor, Grace Vassallo, Emma Burkitt‐Wright, Judith Eelloo, D. Gareth Evans, Siobhan West, Eileen Hupton, Lauren Lewis, Louise Robinson, Angus Dobbie, Ruth Drimer, Saghira Malik Sharif, Rachel Jones, Susan Musson, Catherine Prem, Miranda Splitt, Karen Horridge, Diana Baralle, Carolyn Redman, Helen Tomkins

    Published 2025
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  12. 12
    Radiation treatment of benign tumors in NF2-related-schwannomatosis: A national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression

    Radiation treatment of benign tumors in NF2-related-schwannomatosis: A national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression by D. Gareth Evans, Dorothy Halliday, Rupert Obholzer, Shazia Afridi, Claire Forde, Scott Rutherford, Charlotte Hammerbeck-Ward, Simon Lloyd, Simon Freeman, Omar Pathmanaban, Owen Thomas, Roger Laitt, Stavros Stivaros, John‐Paul Kilday, Grace Vassallo, Catherine McBain, Timothy Lavin, Chay Paterson, Gillian Whitfield, Martin G. McCabe, Patrick Axon, Jane Halliday, Samuel MacKeith, Allyson Parry, Patrick Axon, Juliette Buttimore, James R. Tysome, Neil Donnelly, Daniele Borsetto, James Whitworth, Anke Hensiek, R. Jena, Mathew R. Guilfoyle, Richard Mannion, James Nicholson, Brinda Muthusamy, Amy Taylor, Richard D. Price, Karine Edme, Nicola Gamazo, Zebunnisa Vanat, Daniel Scoffings, Josh Scott, Sarah Jefferies, Richard Knight, Tamara Lamb, Yu Chuen Tam, K. Foweraker, Fiona Harris, Paul Sanghera, Sara Meade, Richard Irving, Peter Monksfield, Nicola Ragge, Melanie Murrell, Julian Barwell, Martin English, Rikin Trivedi, Shazia Afridi, Rosalie E. Ferner, Rupert Obholzer, Victoria Williams, Chris Hammond, Karine Lascelles, Chris Skilbeck, Adam Shaw, Angela Swampillai, Suki Thomson, Nicholas J. Thomas, Eleni Maratos, Sinan Barazi, Rebecca Mullin, Susie M.D. Henley, Natalie Smith, Lal Carlton-Jones, Alison Baker, Mandy Myers, Terry Nunn, Charles Nduka, Raji Anup, Chris Duff, Simon Freeman, Nicola Jarvis, Ian Kamaly-Asl, Andrew T. King, Mark Kellett, John‐Paul Kilday, Simon Lloyd, Catherine McBain, Roger Laitt, Martin O’Driscoll, Martin G. McCabe, Mary Perry, Scott Rutherford, K. Henshaw, Stavros Stivaros, Owen Thomas, Grace Vassallo, Charlotte Hammerbeck-Ward, Omar Pathmanaban

    Published 2023
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  13. 13
    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study by Gillian Rice, Gabriella Forte, Marcin Szynkiewicz, Diana Chase, Alec Aeby, Mohamed S. Abdel‐Hamid, Sam Ackroyd, Rebecca Allcock, Kathryn Bailey, Umberto Balottin, Christine Barnérias, Geneviève Bernard, Christine Bodemer, M.P. Botella, Cristina Cereda, Kate Chandler, Lyvia Dabydeen, Russell C. Dale, Corinne De Laet, Christian G E L De Goede, Mireia del Toro, Laila K. Effat, Noemí Núñez Enamorado, Elisa Fazzi, Blanca Gener, Madli Haldre, Jean‐Pierre Lin, John H. Livingston, Charles Marques Lourenço, Wilson Marques, P.J. Oades, Pärt Peterson, Magnhild Rasmussen, Agathe Roubertie, Johanna Schmidt, Stavit A. Shalev, Rogelio Simón, Ronen Spiegel, Kathryn J. Swoboda, Samia A. Temtamy, Grace Vassallo, Catheline Vilain, Julie Vogt, Vanessa Wermenbol, William Whitehouse, Doriette Soler, Ivana Olivieri, Simona Orcesi, Mona Aglan, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Adeline Vanderver, Kai Kisand, Flore Rozenberg, Pierre Lebon, Yanick J. Crow

    Published 2013
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  14. 14
    Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

    Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature by Gillian Rice, Paul R. Kasher, Gabriella Forte, Niamh Mannion, Sam M. Greenwood, Marcin Szynkiewicz, Jonathan E. Dickerson, Sanjeev S. Bhaskar, Massimiliano Zampini, Tracy A. Briggs, Emma M. Jenkinson, Carlos A. Bacino, Roberta Battini, Enrico Bertini, Paul Brogan, Louise Brueton, Marialuisa Carpanelli, Corinne De Laet, Pascale de Lonlay, Mireia del Toro, Isabelle Desguerre, Elisa Fazzi, Àngels García‐Cazorla, Arvid Heiberg, Masakazu Kawaguchi, Ram Kumar, Jean‐Pierre Lin, Charles Marques Lourenço, Alison Male, Wilson Marques, Cyril Mignot, Ivana Olivieri, Simona Orcesi, Prab Prabhakar, Magnhild Rasmussen, Robert A. Robinson, Flore Rozenberg, Johanna Schmidt, Katharina Steindl, Tiong Yang Tan, William G van der Merwe, Adeline Vanderver, Grace Vassallo, Emma Wakeling, Evangeline Wassmer, Elizabeth Whittaker, John H. Livingston, Pierre Lebon, Tamio Suzuki, Paul McLaughlin, Liam P. Keegan, Mary A. O’Connell, Simon C. Lovell, Yanick J. Crow

    Published 2012
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