Search Results - Roger G. Whittaker
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Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients by Grace McMacken, Roger G. Whittaker, Teresinha Evangelista, Angela Abicht, Marina Dusl, Hanns Lochmüller
Published 2017Artigo -
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Epilepsy in Tanzanian children: Association with perinatal events and other risk factors by Kathryn Burton, Jane Rogathe, Roger G. Whittaker, Kshitij Mankad, Ewan Hunter, Matthew J. Burton, Jim Todd, Brian G.R. Neville, Richard Walker, Charles R. Newton
Published 2012Artigo -
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Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease by Nichola Z. Lax, John P. Grady, Alex Laude, Felix Chan, Philippa D. Hepplewhite, Gráinne S. Gorman, Roger G. Whittaker, Yi Shiau Ng, Mark O. Cunningham, Douglass M. Turnbull
Published 2015Artigo -
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URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION by Roger G. Whittaker, John K. Blackwood, Charlotte L. Alston, Emma L. Blakely, Joanna L. Elson, Robert McFarland, Patrick F. Chinnery, Douglass M. Turnbull, Robert W. Taylor
Published 2009Artigo -
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A nonsynaptic mechanism underlying interictal discharges in human epileptic neocortex by Anita K. Roopun, Jennifer Simonotto, Michelle L. Pierce, Alistair Jenkins, Claire Nicholson, Ian Schofield, Roger G. Whittaker, Marcus Kaiser, Miles A. Whittington, Roger D. Traub, Mark O. Cunningham
Published 2009Artigo -
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Sensory neuronopathy in patients harbouring recessive polymerase γ mutations by Nichola Z. Lax, Roger G. Whittaker, Philippa D. Hepplewhite, Amy K. Reeve, Emma L. Blakely, Evelyn Jaros, Paul G. Ince, Robert W. Taylor, P. Fawcett, Douglass M. Turnbull
Published 2011Artigo -
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Electrophysiologic features of <i>SYT2</i> mutations causing a treatable neuromuscular syndrome by 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
Published 2015Artigo -
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Epilepsy in adults with mitochondrial disease: A cohort study by Roger G. Whittaker, Helen Devine, Gráinne S. Gorman, Andrew M. Schaefer, Rita Horváth, Yi Shiau Ng, Victoria Nesbitt, Nichola Z. Lax, Robert McFarland, Mark O. Cunningham, Robert W. Taylor, Douglass M. Turnbull
Published 2015Artigo -
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Genetic heterogeneity of motor neuropathies by 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
Published 2017Artigo -
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Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy by 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
Published 2014Artigo -
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Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease by 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
Published 2018Artigo -
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Forecasting stroke-like episodes and outcomes in mitochondrial disease by Yi Shiau Ng, Nichola Z. Lax, Alasdair Blain, Daniel Erskine, Mark R. Baker, Tuomo Polvikoski, Rhys H. Thomas, Christopher M. Morris, Ming Lai, Roger G. Whittaker, Alasdair Gebbels, Amy Winder, Julie Hall, Catherine Feeney, Maria Elena Farrugia, Claire Hirst, Mark Roberts, Charlotte Lawthom, Alexia Chrysostomou, Kevin J. Murphy, Tracey Baird, Paul Maddison, Callum Duncan, Joanna Poulton, Victoria Nesbitt, Michael G. Hanna, Robert D. S. Pitceathly, Robert W. Taylor, Emma L. Blakely, Andrew M. Schaefer, Douglass M. Turnbull, Robert McFarland, Gráinne S. Gorman
Published 2021Artigo
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