檢索結果 - Roger G. Whittaker

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  1. 1
    Mitochondrial diseases in childhood: a clinical approach to investigation and management

    Mitochondrial diseases in childhood: a clinical approach to investigation and management 由 Jill Kisler, Roger G. Whittaker, Robert McFarland

    出版 2010
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  2. 2
    A Guide to Approaching Regulatory Considerations for Lentiviral-Mediated Gene Therapies

    A Guide to Approaching Regulatory Considerations for Lentiviral-Mediated Gene Therapies 由 Michael S. White, Roger G. Whittaker, Carolina Gándara, Elizabeth A. Stoll

    出版 2017
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  3. 3
    Impaired mitochondrial function abolishes gamma oscillations in the hippocampus through an effect on fast-spiking interneurons

    Impaired mitochondrial function abolishes gamma oscillations in the hippocampus through an effect on fast-spiking interneurons 由 Roger G. Whittaker, Douglass M. Turnbull, Miles A. Whittington, Mark O. Cunningham

    出版 2011
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  4. 4
    Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

    Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients 由 Grace McMacken, Roger G. Whittaker, Teresinha Evangelista, Angela Abicht, Marina Dusl, Hanns Lochmüller

    出版 2017
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  5. 5
    Prevalence and progression of diabetes in mitochondrial disease

    Prevalence and progression of diabetes in mitochondrial disease 由 Roger G. Whittaker, Andrew M. Schaefer, Robert McFarland, Robert W. Taylor, Mark Walker, Douglass M. Turnbull

    出版 2007
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  6. 6
    Human brain slices for epilepsy research: Pitfalls, solutions and future challenges

    Human brain slices for epilepsy research: Pitfalls, solutions and future challenges 由 Roland S.G. Jones, Anderson Brito da Silva, Roger G. Whittaker, Gavin L. Woodhall, Mark O. Cunningham

    出版 2015
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  7. 7
    Moderate acute alcohol intoxication has minimal effect on surround suppression measured with a motion direction discrimination task

    Moderate acute alcohol intoxication has minimal effect on surround suppression measured with a motion direction discrimination task 由 Jenny C. A. Read, Renos Georgiou, Claire Brash, Partow Yazdani, Roger G. Whittaker, Andrew J. Trevelyan, Ignacio Serrano‐Pedraza

    出版 2015
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  8. 8
    Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome

    Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome 由 Grace McMacken, Sally Spendiff, Roger G. Whittaker, Emily O’Connor, Rachel Howarth, Veronika Boczonadi, Rita Horváth, Clarke R. Slater, Hanns Lochmüller

    出版 2019
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  9. 9
    Epilepsy in Tanzanian children: Association with perinatal events and other risk factors

    Epilepsy in Tanzanian children: Association with perinatal events and other risk factors 由 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

    出版 2012
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  10. 10
    Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease

    Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease 由 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

    出版 2015
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  11. 11
    URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION

    URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION 由 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

    出版 2009
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  12. 12
    A nonsynaptic mechanism underlying interictal discharges in human epileptic neocortex

    A nonsynaptic mechanism underlying interictal discharges in human epileptic neocortex 由 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

    出版 2009
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  13. 13
    Sensory neuronopathy in patients harbouring recessive polymerase γ mutations

    Sensory neuronopathy in patients harbouring recessive polymerase γ mutations 由 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

    出版 2011
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  14. 14
    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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  15. 15
    Epilepsy in adults with mitochondrial disease: A cohort study

    Epilepsy in adults with mitochondrial disease: A cohort study 由 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

    出版 2015
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  16. 16
    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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  17. 17
    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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  18. 18
    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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  19. 19
    Forecasting stroke-like episodes and outcomes in mitochondrial disease

    Forecasting stroke-like episodes and outcomes in mitochondrial disease 由 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

    出版 2021
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  20. 20
    Multi-system neurological disease is common in patients with OPA1 mutations

    Multi-system neurological disease is common in patients with OPA1 mutations 由 Patrick Yu‐Wai‐Man, Philip G. Griffiths, Gráinne S. Gorman, Charles Marques Lourenço, Alan F. Wright, Michaela Auer‐Grumbach, António Toscano, O. Musumeci, Maria Lucia Valentino, Leonardo Caporali, Costanza Lamperti, Chantal Tallaksen, Philip Duffey, James Miller, Roger G. Whittaker, Mark R. Baker, Margaret Jackson, Michael W. Clarke, Baljean Dhillon, Birgit Czermin, Joanna D. Stewart, Gavin Hudson, Pascal Reynier, Dominique Bonneau, Wilson Marques, Guy Lenaers, Robert McFarland, Robert W. Taylor, Douglass M. Turnbull, Marcela Votruba, Massimo Zeviani, Valério Carelli, Laurence A. Bindoff, Rita Horváth, Patrizia Amati‐Bonneau, Patrick F. Chinnery

    出版 2010
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