检索结果 - Boglárka Bánsági

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  1. 1
    A detailed semiologic analysis of childhood psychogenic nonepileptic seizures

    A detailed semiologic analysis of childhood psychogenic nonepileptic seizures 由 Léna Szabó, Zsuzsanna Siegler, László Zubek, Zoltán Liptai, Ivett Körhegyi, Boglárka Bánsági, András Fogarasi

    出版 2012
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  2. 2
    Electrophysiologic features of <i>SYT2</i> mutations causing a treatable neuromuscular syndrome

    Electrophysiologic features of <i>SYT2</i> mutations causing a treatable neuromuscular syndrome 由 Roger G. Whittaker, David N. Herrmann, Boglárka Bánsági, Bashar Hasan, Robert Muni Lofra, Eric L. Logigian, Janet E. Sowden, Jorge L. Almodovar, J. Troy Littleton, Stephan Züchner, Rita Horváth, Hanns Lochmüller

    出版 2015
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  3. 3
    Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

    Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland 由 Boglárka Bánsági, Thalia Antoniadi, Sarah Burton‐Jones, Sinéad M. Murphy, John C. McHugh, Michael Alexander, Richard A. Wells, Joanna P. Davies, David Hilton‐Jones, Hanns Lochmüller, Patrick F. Chinnery, Rita Horváth

    出版 2015
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  4. 4
    Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons

    Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons 由 Veronika Boczonadi, Kathrin Meyer, Humberto Gonczarowska-Jorge, Helen Griffin, Andreas Roos, Marina Bartsakoulia, Boglárka Bánsági, Giulia Ricci, Fanni Palinkas, René P. Zahedi, Francesco Bruni, Brian K. Kaspar, Hanns Lochmüller, Kym M. Boycott, Juliane Müller, Rita Horváth

    出版 2018
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  5. 5
    ANO10 mutations cause ataxia and coenzyme Q10 deficiency

    ANO10 mutations cause ataxia and coenzyme Q10 deficiency 由 Andrea Balreira, Veronika Boczonadi, Emanuele Barca, Angela Pyle, Boglárka Bánsági, Marie Appleton, Claire Graham, Iain P. Hargreaves, Vedrana Milić Rašić, Hanns Lochmüller, Helen Griffin, Robert W. Taylor, Ali Naini, Patrick F. Chinnery, Michio Hirano, Catarina M. Quinzii, Rita Horváth

    出版 2014
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  6. 6
    Genetic heterogeneity of motor neuropathies

    Genetic heterogeneity of motor neuropathies 由 Boglárka Bánsági, Helen Griffin, Roger G. Whittaker, Thalia Antoniadi, Teresinha Evangelista, James Miller, Mark Greenslade, Natalie Forester, Jennifer Duff, Anna Bradshaw, Stephanie Kleinle, Veronika Boczonadi, Hannah E. Steele, Venkateswaran Ramesh, Edit Frankó, Angela Pyle, Hanns Lochmüller, Patrick F. Chinnery, Rita Horváth

    出版 2017
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  7. 7
    Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

    Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy 由 D. Herrmann, Rita Horváth, Janet E. Sowden, Michael Gonzales, Avencia Sánchez-Mejías, Zhuo Guan, Roger G. Whittaker, Jorge L. Almodovar, Maria Lane, Boglárka Bánsági, Angela Pyle, Veronika Boczonadi, Hanns Lochmüller, Helen Griffin, Patrick F. Chinnery, Thomas E. Lloyd, J. Troy Littleton, Stephan Züchner

    出版 2014
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  8. 8
    Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease

    Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease 由 Veronika Boczonadi, Martin S. King, Anthony C. Smith, Monika Oláhová, Boglárka Bánsági, Andreas Roos, Filmon Eyassu, Christoph H. Borchers, Venkateswaran Ramesh, Hanns Lochmüller, Tuomo Polvikoski, Roger G. Whittaker, Angela Pyle, Helen Griffin, Robert W. Taylor, Patrick F. Chinnery, Alan J. Robinson, Edmund R.S. Kunji, Rita Horváth

    出版 2018
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  9. 9
    Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

    Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2 由 Ellen Cottenie, Andrzej Kochański, Albena Jordanova, Boglárka Bánsági, M. Zimoń, Alejandro Horga, Zane Jaunmuktane, Paola Saveri, Vedrana Milić Rašić, Jonathan Baets, Marina Bartsakoulia, Rafał Płoski, Paweł Teterycz, Miloš Nikolić, Rosaline C. M. Quinlivan, Matilde Laurá, Mary G. Sweeney, Franco Taroni, Michael P. Lunn, Isabella Moroni, Michael Gonzalez, Michael G. Hanna, Conceição Bettencourt, E Chabrol, André Franke, Katja von Au, Markus B. Schilhabel, Dagmara Kabzińska, I Hausmanowa-Pétrusewicz, Sebastian Brandner, Siew Choo Lim, Haiwei Song, Byung‐Ok Choi, Rita Horváth, Ki-Wha Chung, Stephan Züchner, Davide Pareyson, Matthew B. Harms, Mary M. Reilly, Henry Houlden

    出版 2014
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