Works by Horvath, Rita

Results: 177
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    The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.

    Published in:
    Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.677551
    By:
    • Traschütz, Andreas;
    • Reich, Selina;
    • Adarmes, Astrid D.;
    • Anheim, Mathieu;
    • Ashrafi, Mahmoud Reza;
    • Baets, Jonathan;
    • Basak, A. Nazli;
    • Bertini, Enrico;
    • Brais, Bernard;
    • Gagnon, Cynthia;
    • Gburek-Augustat, Janina;
    • Hanagasi, Hasmet A.;
    • Heinzmann, Anna;
    • Horvath, Rita;
    • de Jonghe, Peter;
    • Kamm, Christoph;
    • Klivenyi, Peter;
    • Klopstock, Thomas;
    • Minnerop, Martina;
    • Münchau, Alexander
    Publication type:
    Article
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    A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome.

    Published in:
    Epilepsia (Series 4), 2022, v. 63, n. 7, p. 1748, doi. 10.1111/epi.17263
    By:
    • Striano, Pasquale;
    • Auvin, Stéphane;
    • Collins, Abigail;
    • Horvath, Rita;
    • Scheffer, Ingrid E.;
    • Tzadok, Michal;
    • Miller, Ian;
    • Kay Koenig, Mary;
    • Lacy, Adrian;
    • Davis, Ronald;
    • Garcia‐Cazorla, Angela;
    • Saneto, Russell P.;
    • Brandabur, Melanie;
    • Blair, Susan;
    • Koutsoukos, Tony;
    • De Vivo, Darryl
    Publication type:
    Article
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    A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.

    Published in:
    Movement Disorders, 2012, v. 27, n. 6, p. 789, doi. 10.1002/mds.24980
    By:
    • Horvath, Rita;
    • Holinski-Feder, Elke;
    • Neeve, Vivienne C.M.;
    • Pyle, Angela;
    • Griffin, Helen;
    • Ashok, Deephthi;
    • Foley, Charlotte;
    • Hudson, Gavin;
    • Rautenstrauss PhD, Bernd;
    • Nürnberg, Gudrun;
    • Nürnberg, Peter;
    • Kortler, Jörg;
    • Neitzel, Birgit;
    • Bäßmann, Ingelore;
    • Rahman, Thahira;
    • Keavney, Bernard;
    • Loughlin, John;
    • Hambleton, Sophie;
    • Schoser, Benedikt;
    • Lochmüller, Hanns
    Publication type:
    Article
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    Plasma arginine metabolites in health and chronic kidney disease.

    Published in:
    Nephrology Dialysis Transplantation, 2023, v. 38, n. 12, p. 2767, doi. 10.1093/ndt/gfad108
    By:
    • Au, Amy Y M;
    • Mantik, Kevin;
    • Bahadory, Forough;
    • Stathakis, Paul;
    • Guiney, Hayley;
    • Erlich, Jonathan;
    • Walker, Robert;
    • Poulton, Richie;
    • Horvath, Andrea Rita;
    • Endre, Zoltan H
    Publication type:
    Article
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    Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28.

    Published in:
    JAMA Neurology, 2015, v. 72, n. 1, p. 106, doi. 10.1001/jamaneurol.2014.1753
    By:
    • Gorman, Gráinne S.;
    • Pfeffer, Gerald;
    • Griffin, Helen;
    • Blakely, Emma L.;
    • Kurzawa-Akanbi, Marzena;
    • Gabriel, Jessica;
    • Sitarz, Kamil;
    • Roberts, Mark;
    • Schoser, Benedikt;
    • Pyle, Angela;
    • Schaefer, Andrew M.;
    • McFarland, Robert;
    • Turnbull, Douglass M.;
    • Horvath, Rita;
    • Chinnery, Patrick F.;
    • Taylor, Robert W.
    Publication type:
    Article
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    Setting analytical performance specifications based on outcome studies - is it possible?

    Published in:
    Clinical Chemistry & Laboratory Medicine, 2015, v. 53, n. 6, p. 841, doi. 10.1515/cclm-2015-0214
    By:
    • Horvath, Andrea Rita;
    • Bossuyt, Patrick M.M.;
    • Sandberg, Sverre;
    • John, Andrew St;
    • Monaghan, Phillip J.;
    • Verhagen-Kamerbeek, Wilma D.J.;
    • Lennartz, Lieselotte;
    • Cobbaert, Christa M.;
    • Ebert, Christoph;
    • Lord, Sarah J.;
    • for the Test Evaluation Working Group of the European Federation of Clinical Chemistry and Laboratory Medicine
    Publication type:
    Article
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    Accreditation of medical laboratories in the European Union.

    Published in:
    Clinical Chemistry & Laboratory Medicine, 2007, v. 45, n. 2, p. 268, doi. 10.1515/CCLM.2007.037
    By:
    • Huisman, Wim;
    • Horvath, A. Rita;
    • Burnett, David;
    • Blaton, Victor;
    • Czikkely, Rózsa;
    • Jansen, Rob T.P.;
    • Kallner, Anders;
    • Kenny, Desmond;
    • Mesko, Pika;
    • Plebani, Mario;
    • Queralto, José;
    • Schumann, Gerhard;
    • Šprongl, Luděk;
    • Vitkus, Dalius;
    • Wallinder, Hans;
    • Zerah, Simone
    Publication type:
    Article
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    EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03059-3
    By:
    • Atalaia, Antonio;
    • Wandrei, Dagmar;
    • Lalout, Nawel;
    • Thompson, Rachel;
    • Tassoni, Adrian;
    • 't Hoen, Peter A. C.;
    • Athanasiou, Dimitrios;
    • Baker, Suzie-Ann;
    • Sakellariou, Paraskevi;
    • Paliouras, Georgios;
    • D'Angelo, Carla;
    • Horvath, Rita;
    • Mancuso, Michelangelo;
    • van der Beek, Nadine;
    • Kornblum, Cornelia;
    • Kirschner, Janbernd;
    • Pareyson, Davide;
    • Bassez, Guillaume;
    • Blacas, Laura;
    • Jacoupy, Maxime
    Publication type:
    Article
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    The role of medical schools in UK students' career intentions: findings from the AIMS study.

    Published in:
    BMC Medical Education, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12909-024-05366-6
    By:
    • Ferreira, Tomas;
    • Collins, Alexander M.;
    • Handscomb, Arthur;
    • Al-Hashimi, Dania;
    • the AIMS Collaborative;
    • Horvath, Rita;
    • Feng, Oliver;
    • Samworth, Richard J.;
    • Teo, Mario K.;
    • Wigfield, Crispin C.;
    • Mulchrone, Maeve K.;
    • Pervaiz, Alisha;
    • Lewis, Heather A.;
    • Wong, Anson;
    • Gilks, Buzz;
    • Casteleyn, Charlotte;
    • Kidher, Sara;
    • Fitzsimons-West, Erin;
    • Rujeedawa, Tanzil;
    • Sreekumar, Meghna
    Publication type:
    Article
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    Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 4, p. 523, doi. 10.1093/hmg/ddab257
    By:
    • Zheng, Wen-Qiang;
    • Pedersen, Signe Vandal;
    • Thompson, Kyle;
    • Bellacchio, Emanuele;
    • French, Courtney E;
    • Munro, Benjamin;
    • Pearson, Toni S;
    • Vogt, Julie;
    • Diodato, Daria;
    • Diemer, Tue;
    • Ernst, Anja;
    • Horvath, Rita;
    • Chitre, Manali;
    • Ek, Jakob;
    • Wibrand, Flemming;
    • Grange, Dorothy K;
    • Raymond, Lucy;
    • Zhou, Xiao-Long;
    • Taylor, Robert W;
    • Ostergaard, Elsebet
    Publication type:
    Article
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