Kết quả tìm kiếm - Boglárka Bánsági
- Đang hiển thị 1 - 9 kết quả của 9
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Electrophysiologic features of <i>SYT2</i> mutations causing a treatable neuromuscular syndrome Bằng 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
Được phát hành 2015Artigo -
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Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland Bằng 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
Được phát hành 2015Artigo -
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Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons Bằng 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
Được phát hành 2018Artigo -
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ANO10 mutations cause ataxia and coenzyme Q10 deficiency Bằng 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
Được phát hành 2014Artigo -
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Genetic heterogeneity of motor neuropathies Bằng 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
Được phát hành 2017Artigo -
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Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy Bằng 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
Được phát hành 2014Artigo -
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Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease Bằng 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
Được phát hành 2018Artigo -
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Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2 Bằng 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
Được phát hành 2014Artigo
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Các môn học liên quan
Biology
Gene
Genetics
Medicine
Mutation
Internal medicine
Pathology
Disease
Missense mutation
Neuromuscular transmission
Neuroscience
Audiology
Cell biology
Endocrinology
Genetic heterogeneity
Mitochondrion
Neurology
Pediatrics
Phenotype
Psychiatry
Psychology
Receptor
Amino acid
Anatomy
Anesthesia
Ataxia
Atrophy
Bioinformatics
Cerebellar ataxia
Coenzyme Q10