Works matching AU Hanna, Michael G.

Results: 123
    1

    The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel.

    Published in:
    Human Mutation, 2018, v. 39, n. 9, p. 1273, doi. 10.1002/humu.23581
    By:
    • Altamura, Concetta;
    • Lucchiari, Sabrina;
    • Sahbani, Dalila;
    • Ulzi, Gianna;
    • Comi, Giacomo P.;
    • D'Ambrosio, Paola;
    • Petillo, Roberta;
    • Politano, Luisa;
    • Vercelli, Liliana;
    • Mongini, Tiziana;
    • Dotti, Maria Teresa;
    • Cardani, Rosanna;
    • Meola, Giovanni;
    • Lo Monaco, Mauro;
    • Matthews, Emma;
    • Hanna, Michael G.;
    • Carratù, Maria Rosaria;
    • Conte, Diana;
    • Imbrici, Paola;
    • Desaphy, Jean‐François
    Publication type:
    Article
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    Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 991, doi. 10.3390/jcm8070991
    By:
    • Bugiardini, Enrico;
    • Pope, Simon;
    • Feichtinger, René G.;
    • Poole, Olivia V.;
    • Pittman, Alan M.;
    • Woodward, Cathy E.;
    • Heales, Simon;
    • Quinlivan, Rosaline;
    • Houlden, Henry;
    • Mayr, Johannes A.;
    • Hanna, Michael G.;
    • Pitceathly, Robert D.S.
    Publication type:
    Article
    3

    Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 7, p. 991, doi. 10.3390/jcm8070991
    By:
    • Bugiardini, Enrico;
    • Pope, Simon;
    • Feichtinger, René G.;
    • Poole, Olivia V.;
    • Pittman, Alan M.;
    • Woodward, Cathy E.;
    • Heales, Simon;
    • Quinlivan, Rosaline;
    • Houlden, Henry;
    • Mayr, Johannes A.;
    • Hanna, Michael G.;
    • Pitceathly, Robert D.S.
    Publication type:
    Article
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    Immune-Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum.

    Published in:
    Arthritis & Rheumatology, 2017, v. 69, n. 5, p. 1090, doi. 10.1002/art.40045
    By:
    • Rothwell, Simon;
    • Cooper, Robert G.;
    • Lundberg, Ingrid E.;
    • Gregersen, Peter K.;
    • Hanna, Michael G.;
    • Machado, Pedro M.;
    • Herbert, Megan K.;
    • Pruijn, Ger J. M.;
    • Lilleker, James B.;
    • Roberts, Mark;
    • Bowes, John;
    • Seldin, Michael F.;
    • Vencovsky, Jiri;
    • Danko, Katalin;
    • Limaye, Vidya;
    • Selva‐O'Callaghan, Albert;
    • Platt, Hazel;
    • Molberg, Øyvind;
    • Benveniste, Olivier;
    • Radstake, Timothy R. D. J.
    Publication type:
    Article
    15

    2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26829-0
    By:
    • Pantic, Boris;
    • Ives, Daniel;
    • Mennuni, Mara;
    • Perez-Rodriguez, Diego;
    • Fernandez-Pelayo, Uxoa;
    • Lopez de Arbina, Amaia;
    • Muñoz-Oreja, Mikel;
    • Villar-Fernandez, Marina;
    • Dang, Thanh-mai Julie;
    • Vergani, Lodovica;
    • Johnston, Iain G.;
    • Pitceathly, Robert D. S.;
    • McFarland, Robert;
    • Hanna, Michael G.;
    • Taylor, Robert W.;
    • Holt, Ian J.;
    • Spinazzola, Antonella
    Publication type:
    Article
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    Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study.

    Published in:
    PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0090377
    By:
    • Willis, Tracey A.;
    • Hollingsworth, Kieren G.;
    • Coombs, Anna;
    • Sveen, Marie-Louise;
    • Andersen, Soren;
    • Stojkovic, Tanya;
    • Eagle, Michelle;
    • Mayhew, Anna;
    • de Sousa, Paulo Loureiro;
    • Dewar, Liz;
    • Morrow, Jasper M.;
    • Sinclair, Christopher D. J.;
    • Thornton, John S.;
    • Bushby, Kate;
    • Lochmuller, Hanns;
    • Hanna, Michael G.;
    • Hogrel, Jean-Yves;
    • Carlier, Pierre G.;
    • Vissing, John;
    • Straub, Volker
    Publication type:
    Article
    18

    Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study.

    Published in:
    PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0070993
    By:
    • Willis, Tracey A.;
    • Hollingsworth, Kieren G.;
    • Coombs, Anna;
    • Sveen, Marie-Louise;
    • Andersen, Søren;
    • Stojkovic, Tanya;
    • Eagle, Michelle;
    • Mayhew, Anna;
    • de Sousa, Paulo L.;
    • Dewar, Liz;
    • Morrow, Jasper M.;
    • Sinclair, Christopher D. J.;
    • Thornton, John S.;
    • Bushby, Kate;
    • Lochmüller, Hanns;
    • Hanna, Michael G.;
    • Hogrel, Jean-Yves;
    • Carlier, Pierre G.;
    • Vissing, John;
    • Straub, Volker
    Publication type:
    Article
    19

    Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.

    Published in:
    EMBO Journal, 2020, v. 39, n. 23, p. 1, doi. 10.15252/embj.2020105364
    By:
    • Hathazi, Denisa;
    • Griffin, Helen;
    • Jennings, Matthew J;
    • Giunta, Michele;
    • Powell, Christopher;
    • Pearce, Sarah F;
    • Munro, Benjamin;
    • Wei, Wei;
    • Boczonadi, Veronika;
    • Poulton, Joanna;
    • Pyle, Angela;
    • Calabrese, Claudia;
    • Gomez‐Duran, Aurora;
    • Schara, Ulrike;
    • Pitceathly, Robert D S;
    • Hanna, Michael G;
    • Joost, Kairit;
    • Cotta, Ana;
    • Paim, Julia Filardi;
    • Navarro, Monica Machado
    Publication type:
    Article
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    Extra-ocular muscle MRI in genetically-defined mitochondrial disease.

    Published in:
    2016
    By:
    • Pitceathly, Robert;
    • Morrow, Jasper;
    • Sinclair, Christopher;
    • Woodward, Cathy;
    • Sweeney, Mary;
    • Rahman, Shamima;
    • Plant, Gordon;
    • Ali, Nadeem;
    • Bremner, Fion;
    • Davagnanam, Indran;
    • Yousry, Tarek;
    • Hanna, Michael;
    • Thornton, John;
    • Pitceathly, Robert D S;
    • Morrow, Jasper M;
    • Sinclair, Christopher D J;
    • Sweeney, Mary G;
    • Plant, Gordon T;
    • Yousry, Tarek A;
    • Hanna, Michael G
    Publication type:
    journal article
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    Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.

    Published in:
    Brain Communications, 2024, v. 6, n. 6, p. 1, doi. 10.1093/braincomms/fcae342
    By:
    • Frezatti, Rodrigo Siqueira Soares;
    • Tomaselli, Pedro José;
    • Record, Christopher J;
    • Wilson, Lindsay A;
    • Alves, Gustavo Maximiano;
    • Dominik, Natalia;
    • Efthymiou, Stephanie;
    • Patel, Krutik;
    • Vandrovcova, Jana;
    • Männikkö, Roope;
    • Pitceathly, Robert D S;
    • Sobreira, Claudia Ferreira da Rosa;
    • McFarland, Robert;
    • Taylor, Robert W;
    • Houlden, Henry;
    • Hanna, Michael G;
    • Reilly, Mary M;
    • Marques, Wilson
    Publication type:
    Article
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    Episodic Ataxia Type 1: Natural History and Effect on Quality of Life.

    Published in:
    Cerebellum, 2023, v. 22, n. 4, p. 578, doi. 10.1007/s12311-021-01360-6
    By:
    • Graves, Tracey D.;
    • Griggs, Robert C.;
    • Bundy, Brian N.;
    • Jen, Joanna C.;
    • Baloh, Robert W.;
    • Hanna, Michael G.;
    • the CINCH Investigators;
    • Jen, Joanna J.;
    • Amato, Anthony A.;
    • Barohn, Richard J.;
    • Hahn, Angelika F.;
    • Hart, Kimberly;
    • Herr, Barbara;
    • Wang, Yunxia;
    • Salajegheh, Mohammad;
    • Puwanant, Araya;
    • Rajakalendran, Sanjeev;
    • Cha, Yoon-Hee;
    • Krischer, Jeffrey;
    • Herbelin, Laura
    Publication type:
    Article
    27

    MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 16, p. 2711, doi. 10.1093/hmg/ddz093
    By:
    • Bugiardini, Enrico;
    • Mitchell, Alice L;
    • Rosa, Ilaria Dalla;
    • Horning-Do, Hue-Tran;
    • Pitmann, Alan M;
    • Poole, Olivia V;
    • Holton, Janice L;
    • Shah, Sachit;
    • Woodward, Cathy;
    • Hargreaves, Iain;
    • Quinlivan, Rosaline;
    • Amunts, Alexey;
    • Wiesner, Rudolf J;
    • Houlden, Henry;
    • Holt, Ian J;
    • Hanna, Michael G;
    • Pitceathly, Robert D S;
    • Spinazzola, Antonella
    Publication type:
    Article
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    Mexiletine for Symptoms and Signs of Myotonia in Nondystrophic Myotonia: A Randomized Controlled Trial.

    Published in:
    JAMA: Journal of the American Medical Association, 2012, v. 308, n. 13, p. 1357, doi. 10.1001/jama.2012.12607
    By:
    • Statland, Jeffrey M.;
    • Bundy, Brian N.;
    • Yunxia Wang;
    • Raja Rayan, Dipa;
    • Trivedi, Jaya R.;
    • Sansone, Valeria A.;
    • Salajegheh, Mohammad K.;
    • Venance, Shannon L.;
    • Ciafaloni, Emma;
    • Matthews, Emma;
    • Meola, Giovanni;
    • Herbelin, Laura;
    • Griggs, Robert C.;
    • Barohn, Richard J.;
    • Hanna, Michael G.
    Publication type:
    Article
    30

    Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2723, doi. 10.1093/brain/awad050
    By:
    • Zanovello, Matteo;
    • Ibáñez, Kristina;
    • Brown, Anna-Leigh;
    • Sivakumar, Prasanth;
    • Bombaci, Alessandro;
    • Santos, Liana;
    • Vugt, Joke J F A van;
    • Narzisi, Giuseppe;
    • Karra, Ramita;
    • Scholz, Sonja W;
    • Ding, Jinhui;
    • Gibbs, J Raphael;
    • Chiò, Adriano;
    • Dalgard, Clifton;
    • Weisburd, Ben;
    • consortium, The American Genome Center (TAGC);
    • Hanna, Michael G;
    • Greensmith, Linda;
    • Phatnani, Hemali;
    • Veldink, Jan H
    Publication type:
    Article
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    Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.

    Published in:
    2020
    By:
    • Molenaar, Joery P;
    • Verhoeven, Jamie I;
    • Rodenburg, Richard J;
    • Kamsteeg, Erik J;
    • Erasmus, Corrie E;
    • Vicart, Savine;
    • Behin, Anthony;
    • Bassez, Guillaume;
    • Magot, Armelle;
    • Péréon, Yann;
    • Brandom, Barbara W;
    • Guglielmi, Valeria;
    • Vattemi, Gaetano;
    • Chevessier, Frédéric;
    • Mathieu, Jean;
    • Franques, Jérôme;
    • Suetterlin, Karen;
    • Hanna, Michael G;
    • Guyant-Marechal, Lucie;
    • Snoeck, Marc M
    Publication type:
    journal article
    35

    A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms.

    Published in:
    2018
    By:
    • Castañeda, Marisol Sampedro;
    • Zanoteli, Edmar;
    • Scalco, Renata S;
    • Scaramuzzi, Vinicius;
    • Caldas, Vitor Marques;
    • Reed, Umbertina Conti;
    • Silva, Andre Macedo Serafim da;
    • O'Callaghan, Benjamin;
    • Phadke, Rahul;
    • Bugiardini, Enrico;
    • Sampedro Castañeda, Marisol;
    • Marques Caldas, Vitor;
    • Conti Reed, Umbertina;
    • da Silva, Andre Macedo Serafim;
    • Sud, Richa;
    • McCall, Samuel;
    • Hanna, Michael G;
    • Poulsen, Hanne;
    • Männikkö, Roope;
    • Matthews, Emma
    Publication type:
    journal article
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    Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 7, p. 2189
    By:
    • Trivedi, Jaya R.;
    • Bundy, Brian;
    • Statland, Jeffrey;
    • Salajegheh, Mohammad;
    • Rayan, Dipa Raja;
    • Venance, Shannon L.;
    • Wang, Yunxia;
    • Fialho, Doreen;
    • Matthews, Emma;
    • Cleland, James;
    • Gorham, Nina;
    • Herbelin, Laura;
    • Cannon, Stephen;
    • Amato, Anthony;
    • Griggs, Robert C.;
    • Hanna, Michael G.;
    • Barohn, Richard J.
    Publication type:
    Article
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    Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

    Published in:
    Brain: A Journal of Neurology, 2012, v. 135, n. 11, p. 3392, doi. 10.1093/brain/aws231
    By:
    • Pitceathly, Robert D. S.;
    • Smith, Conrad;
    • Fratter, Carl;
    • Alston, Charlotte L.;
    • He, Langping;
    • Craig, Kate;
    • Blakely, Emma L.;
    • Evans, Julie C.;
    • Taylor, John;
    • Shabbir, Zarfishan;
    • Deschauer, Marcus;
    • Pohl, Ute;
    • Roberts, Mark E.;
    • Jackson, Matthew C.;
    • Halfpenny, Christopher A.;
    • Turnpenny, Peter D.;
    • Lunt, Peter W.;
    • Hanna, Michael G.;
    • Schaefer, Andrew M.;
    • McFarland, Robert
    Publication type:
    Article
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    The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.

    Published in:
    Kidney International, 2015, v. 87, n. 3, p. 610, doi. 10.1038/ki.2014.297
    By:
    • Hall, Andrew M;
    • Vilasi, Annalisa;
    • Garcia-Perez, Isabel;
    • Lapsley, Marta;
    • Alston, Charlotte L;
    • Pitceathly, Robert D S;
    • McFarland, Robert;
    • Schaefer, Andrew M;
    • Turnbull, Doug M;
    • Beaumont, Nick J;
    • Hsuan, Justin J;
    • Cutillas, Pedro R;
    • Lindon, John C;
    • Holmes, Elaine;
    • Unwin, Robert J;
    • Taylor, Robert W;
    • Gorman, Grainne S;
    • Rahman, Shamima;
    • Hanna, Michael G
    Publication type:
    Article