Works matching AU Hilton, David


Results: 128
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    Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.

    Published in:
    2018
    By:
    • Morís, Germán;
    • Wood, Libby;
    • FernáNdez‐Torrón, Roberto;
    • González Coraspe, José Andrés;
    • Turner, Chris;
    • Hilton‐Jones, David;
    • Norwood, Fiona;
    • Willis, Tracey;
    • Parton, Matt;
    • Rogers, Mark;
    • Hammans, Simon;
    • Roberts, Mark;
    • Househam, Elizabeth;
    • Williams, Maggie;
    • Lochmüller, Hanns;
    • Evangelista, Teresinha;
    • FernáNdez-Torrón, Roberto;
    • Hilton-Jones, David
    Publication type:
    journal article
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    A multicentre postal survey investigating the contribution of illness perceptions, coping and optimism to quality of life and mood in adults with muscle disease.

    Published in:
    Clinical Rehabilitation, 2014, v. 28, n. 5, p. 508, doi. 10.1177/0269215513511340
    By:
    • Graham, Christopher D;
    • Weinman, John;
    • Sadjadi, Reza;
    • Chalder, Trudie;
    • Petty, Richard;
    • Hanna, Mike G;
    • Turner, Chris;
    • Parton, Matt;
    • Maddison, Paul;
    • Radunovic, Aleksandar;
    • Longman, Cheryl;
    • Robb, Yvonne;
    • Bushby, Kate;
    • Hilton-Jones, David;
    • Rose, Michael R
    Publication type:
    Article
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    Schwannomas and Their Pathogenesis.

    Published in:
    Brain Pathology, 2014, v. 24, n. 3, p. 205, doi. 10.1111/bpa.12125
    By:
    • Hilton, David A.;
    • Hanemann, Clemens Oliver
    Publication type:
    Article
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    Prevalence in Britain of abnormal prion protein in human appendices before and after exposure to the cattle BSE epizootic.

    Published in:
    Acta Neuropathologica, 2020, v. 139, n. 6, p. 965, doi. 10.1007/s00401-020-02153-7
    By:
    • Gill, O. Noel;
    • Spencer, Yvonne;
    • Richard-Loendt, Angela;
    • Kelly, Carole;
    • Brown, David;
    • Sinka, Katy;
    • Andrews, Nick;
    • Dabaghian, Reza;
    • Simmons, Marion;
    • Edwards, Philip;
    • Bellerby, Peter;
    • Everest, David J.;
    • McCall, Mark;
    • McCardle, Linda M.;
    • Linehan, Jacqueline;
    • Mead, Simon;
    • Hilton, David A.;
    • Ironside, James W.;
    • Brandner, Sebastian
    Publication type:
    Article
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    Biexcitons in monolayer transition metal dichalcogenides tuned by magnetic fields.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-05643-1
    By:
    • Stevens, Christopher. E.;
    • Paul, Jagannath;
    • Cox, Timothy;
    • Sahoo, Prasana K.;
    • Gutiérrez, Humberto R.;
    • Turkowski, Volodymyr;
    • Semenov, Dimitry;
    • McGill, Steven A.;
    • Kapetanakis, Myron D.;
    • Perakis, Ilias E.;
    • Hilton, David J.;
    • Karaiskaj, Denis
    Publication type:
    Article
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    Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.

    Published in:
    Nature Genetics, 2004, v. 36, n. 6, p. 597, doi. 10.1038/ng1328
    By:
    • Irobi, Joy;
    • Van Impe, Katrien;
    • Seeman, Pavel;
    • Jordanova, Albena;
    • Dierick, Ines;
    • Verpoorten, Nathalie;
    • Michalik, Andrej;
    • De Vriendt, Els;
    • Jacobs, An;
    • Van Gerwen, Veerle;
    • Vennekens, Krist'l;
    • Mazanec, Radim;
    • Tournev, Ivailo;
    • Hilton-Jones, David;
    • Talbot, Kevin;
    • Kremensky, Ivo;
    • Van Den Bosch, Ludo;
    • Robberecht, Wim;
    • Vandekerckhove, Joël;
    • Van Broeckhoven, Christine
    Publication type:
    Article
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    Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

    Published in:
    Nature Genetics, 2004, v. 36, n. 6, p. 602, doi. 10.1038/ng1354
    By:
    • Evgrafov, Oleg V.;
    • Mersiyanova, Irena;
    • Irobi, Joy;
    • Van Den Bosch, Ludo;
    • Dierick, Ines;
    • Leung, Conrad L.;
    • Schagina, Olga;
    • Verpoorten, Nathalie;
    • Van Impe, Katrien;
    • Fedotov, Valeriy;
    • Dadali, Elena;
    • Auer-Grumbach, Michaela;
    • Windpassinger, Christian;
    • Wagner, Klaus;
    • Mitrovic, Zoran;
    • Hilton-Jones, David;
    • Talbot, Kevin;
    • Martin, Jean-Jacques;
    • Vasserman, Natalia;
    • Tverskaya, Svetlana
    Publication type:
    Article
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    Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1323, doi. 10.1093/brain/awu060
    By:
    • Pfeffer, Gerald;
    • Gorman, Gráinne S;
    • Griffin, Helen;
    • Kurzawa-Akanbi, Marzena;
    • Blakely, Emma L.;
    • Wilson, Ian;
    • Sitarz, Kamil;
    • Moore, David;
    • Murphy, Julie L.;
    • Alston, Charlotte L.;
    • Pyle, Angela;
    • Coxhead, Jon;
    • Payne, Brendan;
    • Gorrie, George H.;
    • Longman, Cheryl;
    • Hadjivassiliou, Marios;
    • McConville, John;
    • Dick, David;
    • Imam, Ibrahim;
    • Hilton, David
    Publication type:
    Article
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    Long-term observational study of sporadic inclusion body myositis.

    Published in:
    Brain: A Journal of Neurology, 2011, v. 134, n. 11, p. 3176, doi. 10.1093/brain/awr213
    By:
    • Benveniste, Olivier;
    • Guiguet, Marguerite;
    • Freebody, Jane;
    • Dubourg, Odile;
    • Squier, Waney;
    • Maisonobe, Thierry;
    • Stojkovic, Tanya;
    • Leite, Maria Isabel;
    • Allenbach, Yves;
    • Herson, Serge;
    • Brady, Stefen;
    • Eymard, Bruno;
    • Hilton-Jones, David
    Publication type:
    Article
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    Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

    Published in:
    Brain: A Journal of Neurology, 2010, v. 133, n. 6, p. 1798, doi. 10.1093/brain/awq109
    By:
    • Zimoń, Magdalena;
    • Baets, Jonathan;
    • Auer-Grumbach, Michaela;
    • Berciano, José;
    • Garcia, Antonio;
    • Lopez-Laso, Eduardo;
    • Merlini, Luciano;
    • Hilton-Jones, David;
    • McEntagart, Meriel;
    • Crosby, Andrew H.;
    • Barisic, Nina;
    • Boltshauser, Eugen;
    • Shaw, Christopher E.;
    • Landouré, Guida;
    • Ludlow, Christy L.;
    • Gaudet, Rachelle;
    • Houlden, Henry;
    • Reilly, Mary M.;
    • Fischbeck, Kenneth H.;
    • Sumner, Charlotte J.
    Publication type:
    Article
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    THE MUSCULAR DYSTROPHIES.

    Published in:
    Brain: A Journal of Neurology, 2002, v. 125, n. 10, p. 2367
    By:
    • Hilton‐Jones, David
    Publication type:
    Article
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    The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research.

    Published in:
    Journal of Neurology, 2017, v. 264, n. 5, p. 979, doi. 10.1007/s00415-017-8483-2
    By:
    • Wood, Libby;
    • Cordts, Isabell;
    • Atalaia, Antonio;
    • Marini-Bettolo, Chiara;
    • Maddison, Paul;
    • Phillips, Margaret;
    • Roberts, Mark;
    • Rogers, Mark;
    • Hammans, Simon;
    • Straub, Volker;
    • Petty, Richard;
    • Orrell, Richard;
    • Monckton, Darren;
    • Nikolenko, Nikoletta;
    • Jimenez-Moreno, Aura;
    • Thompson, Rachel;
    • Hilton-Jones, David;
    • Turner, Chris;
    • Lochmüller, Hanns
    Publication type:
    Article