Hasil Pencarian - Ros Quinlivan

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  1. 1
    Resistance Exercise Training in McArdle Disease: Myth or Reality?

    Resistance Exercise Training in McArdle Disease: Myth or Reality? oleh Aleksandra Pietrusz, Renata S. Scalco, Ros Quinlivan

    Diterbitkan 2018-01-01
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  2. 2
    Workshop report: Workshop on psychiatric prescribing and psychology testing and intervention in children and adults with Duchenne muscular dystrophy

    Workshop report: Workshop on psychiatric prescribing and psychology testing and intervention in children and adults with Duchenne muscular dystrophy oleh Linda Bouquillon, Dot Bindman, Jos Hendriksen, Phillipe Collin, Janet Hoskin, Rory Conn, Chloe Geagan, Ros Quinlivan

    Diterbitkan 2024-02-01
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  3. 3
    From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease

    From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease oleh Renata Siciliani Scalco, Sherryl Chatfield, Richard Godfrey, Jatin Pattni, Charlotte Ellerton, Andrea Beggs, Stefen Brady, Andrew Wakelin, Janice L Holton, Ros Quinlivan

    Diterbitkan 2014-07-01
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  4. 4
    The need for biochemical testing in beta‐enolase deficiency in the genomic era

    The need for biochemical testing in beta‐enolase deficiency in the genomic era oleh Ralph Wigley, Renata S. Scalco, Alice R. Gardiner, Richard Godfrey, Suzanne Booth, Richard Kirk, David Hilton‐Jones, Henry Houlden, Simon Heales, Ros Quinlivan

    Diterbitkan 2019-11-01
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  5. 5
    Energy metabolism during exercise in patients with β‐enolase deficiency (GSDXIII)

    Energy metabolism during exercise in patients with β‐enolase deficiency (GSDXIII) oleh Astrid Emilie Buch, Olimpia Musumeci, Ralph Wigley, Mads Peter Godtfeldt Stemmerik, Anne‐Sofie Vibæk Eisum, Karen Lindhardt Madsen, Nicolai Preisler, David Hilton‐Jones, Ros Quinlivan, Antonio Toscano, John Vissing

    Diterbitkan 2021-09-01
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  6. 6
    Clinical, histological, and genetic characterization of PYROXD1-related myopathy

    Clinical, histological, and genetic characterization of PYROXD1-related myopathy oleh Xavière Lornage, Vanessa Schartner, Inès Balbueno, Valérie Biancalana, Tracey Willis, Andoni Echaniz-Laguna, Sophie Scheidecker, Ros Quinlivan, Michel Fardeau, Edoardo Malfatti, Béatrice Lannes, Caroline Sewry, Norma B. Romero, Jocelyn Laporte, Johann Böhm

    Diterbitkan 2019-08-01
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  7. 7
    Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations

    Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations oleh Ros Quinlivan, Michela Guglieri, Ashish Chikermane, Adrian Morley-Davies, Konstantinos Savvatis, Zaheer Yousef, John Bourke, William Bradlow, Matthew Fenton, Caroline Coats, Maria Ilina, Marianela Schiava, Cathy Turner, Alexandra Johnson, Stam Kapetanakis, Lisa Kuhwald

    Diterbitkan 2022-11-01
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  8. 8
    No effect of triheptanoin on exercise performance in McArdle disease

    No effect of triheptanoin on exercise performance in McArdle disease oleh Karen L. Madsen, Pascal Laforêt, Astrid E. Buch, Mads G. Stemmerik, Chris Ottolenghi, Stéphane N. Hatem, Daniel T. Raaschou‐Pedersen, Nanna S. Poulsen, Maria Atencio, Marie‐Pierre Luton, Alexandre Ceccaldi, Ronald G. Haller, Ros Quinlivan, Fanny Mochel, John Vissing

    Diterbitkan 2019-10-01
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  9. 9
    “Be an ambassador for change that you would like to see”: a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease

    “Be an ambassador for change that you would like to see”: a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of peop... oleh Anna Ambrosini, Ros Quinlivan, Valeria A. Sansone, Ingeborg Meijer, Guus Schrijvers, Aad Tibben, George Padberg, Maarten de Wit, Ellen Sterrenburg, Alexandre Mejat, Alexandra Breukel, Michal Rataj, Hanns Lochmüller, Raffaella Willmann, on behalf of the 235th ENMC workshop study group

    Diterbitkan 2019-06-01
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  10. 10
    Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

    Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) oleh Tomàs Pinós, Antoni L. Andreu, Claudio Bruno, Georgios M. Hadjigeorgiou, Ronald G. Haller, Pascal Laforêt, Alejandro Lucía, Miguel A. Martín, Andrea Martinuzzi, Carmen Navarro, Piraye Oflazer, Jean Pouget, Ros Quinlivan, Sabrina Sacconi, Renata S. Scalco, Antonio Toscano, John Vissing, Matthias Vorgerd, Andrew Wakelin, Ramon Martí, EUROMAC Consortium

    Diterbitkan 2020-10-01
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  11. 11
    Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

    Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation oleh Walaa Karazi, Renata S. Scalco, Mads G. Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebecca Trost, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Nicol C. Voermans, EUROMAC Consortium

    Diterbitkan 2023-07-01
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  12. 12
    Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

    Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry oleh Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft

    Diterbitkan 2024-10-01
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  13. 13
    A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

    A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry oleh Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft

    Diterbitkan 2024-07-01
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