Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment

por McMacken, Grace, Whittaker, Roger G., Wake, Ruth, Lochmuller, Hanns, Horvath, Rita
Publicado 2023

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

por Whittaker, Roger G., Turnbull, Douglass M., Whittington, Miles A., Cunningham, Mark O.
Publicado 2011

Assessment of epilepsy using noninvasive visual psychophysics tests of surround suppression

por Yazdani, Partow, Read, Jenny C.A., Whittaker, Roger G., Trevelyan, Andrew J.
Publicado 2017

Non-invasive imaging of single human motor units

por Birkbeck, Matthew G., Heskamp, Linda, Schofield, Ian S., Blamire, Andrew M., Whittaker, Roger G.
Publicado 2020

The muscle twitch profile assessed with motor unit magnetic resonance imaging

por Heskamp, Linda, Birkbeck, Matthew G., Whittaker, Roger G., Schofield, Ian S., Blamire, Andrew M.
Publicado 2021

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

por McMacken, Grace, Whittaker, Roger G., Evangelista, Teresinha, Abicht, Angela, Dusl, Marina, Lochmüller, Hanns
Publicado 2017

The role of novel motor unit magnetic resonance imaging to investigate motor unit activity in ageing skeletal muscle

por Birkbeck, Matthew G., Blamire, Andrew M., Whittaker, Roger G., Sayer, Avan Aihie, Dodds, Richard M.
Publicado 2020

Neuromuscular Junction Abnormalities in Mitochondrial Disease: An Observational Cohort Study

por Braz, Luis P., Ng, Yi Shiau, Gorman, Gráinne S., Schaefer, Andrew M., McFarland, Robert, Taylor, Robert W., Turnbull, Doug M., Whittaker, Roger G.
Publicado 2021

Slow wave sleep and accelerated forgetting

por Atherton, Kathryn E., Nobre, Anna C., Lazar, Alpar S., Wulff, Katharina, Whittaker, Roger G., Dhawan, Vandana, Lazar, Zsolt I., Zeman, Adam Z., Butler, Christopher R.
Publicado 2016

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome

por McMacken, Grace M, Spendiff, Sally, Whittaker, Roger G, O’Connor, Emily, Howarth, Rachel M, Boczonadi, Veronika, Horvath, Rita, Slater, Clarke R, Lochmüller, Hanns
Publicado 2019

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

por Lax, Nichola Z., Grady, John, Laude, Alex, Chan, Felix, Hepplewhite, Philippa D., Gorman, Grainne, Whittaker, Roger G., Ng, Yi, Cunningham, Mark O., Turnbull, Doug M.
Publicado 2015

Co-morbidity of epilepsy in Tanzanian children: A community-based case–control study

por Burton, Kathryn, Rogathe, Jane, Whittaker, Roger G., Mankad, Kshitij, Hunter, Ewan, Burton, Matthew J., Todd, Jim, Neville, Brian G.R., Walker, Richard, Newton, Charles R.J.C.
Publicado 2012

Epilepsy in adults with mitochondrial disease: A cohort study

por Whittaker, Roger G., Devine, Helen E., Gorman, Grainne S., Schaefer, Andrew M., Horvath, Rita, Ng, Yi, Nesbitt, Victoria, Lax, Nichola Z., McFarland, Robert, Cunningham, Mark O., Taylor, Robert W., Turnbull, Douglass M.
Publicado 2015

Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome

por Shields, Mallory C., Bowers, Matthew R., Fulcer, McKenzie M., Bollig, Madelyn K., Rock, Patrick J., Sutton, Bryan R., Vrailas-Mortimer, Alysia D., Lochmüller, Hanns, Whittaker, Roger G., Horvath, Rita, Reist, Noreen E.
Publicado 2017

Genetic heterogeneity of motor neuropathies

por Bansagi, Boglarka, Griffin, Helen, Whittaker, Roger G., Antoniadi, Thalia, Evangelista, Teresinha, Miller, James, Greenslade, Mark, Forester, Natalie, Duff, Jennifer, Bradshaw, Anna, Kleinle, Stephanie, Boczonadi, Veronika, Steele, Hannah, Ramesh, Venkateswaran, Franko, Edit, Pyle, Angela, Lochmüller, Hanns, Chinnery, Patrick F., Horvath, Rita
Publicado 2017

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation

por Bansagi, Boglarka, Phan, Vietxuan, Baker, Mark R., O'Sullivan, Julia, Jennings, Matthew J., Whittaker, Roger G., Müller, Juliane S., Duff, Jennifer, Griffin, Helen, Miller, James A.L., Gorman, Grainne S., Lochmüller, Hanns, Chinnery, Patrick F., Roos, Andreas, Swan, Laura E., Horvath, Rita
Publicado 2018

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

por Boczonadi, Veronika, King, Martin S., Smith, Anthony C., Olahova, Monika, Bansagi, Boglarka, Roos, Andreas, Eyassu, Filmon, Borchers, Christoph, Ramesh, Venkateswaran, Lochmüller, Hanns, Polvikoski, Tuomo, Whittaker, Roger G., Pyle, Angela, Griffin, Helen, Taylor, Robert W., Chinnery, Patrick F., Robinson, Alan J., Kunji, Edmund R.S., Horvath, Rita
Publicado 2018

Forecasting stroke-like episodes and outcomes in mitochondrial disease

por Ng, Yi Shiau, Lax, Nichola Z, Blain, Alasdair P, Erskine, Daniel, Baker, Mark R, Polvikoski, Tuomo, Thomas, Rhys H, Morris, Christopher M, Lai, Ming, Whittaker, Roger G, Gebbels, Alasdair, Winder, Amy, Hall, Julie, Feeney, Catherine, Farrugia, Maria Elena, Hirst, Claire, Roberts, Mark, Lawthom, Charlotte, Chrysostomou, Alexia, Murphy, Kevin, Baird, Tracey, Maddison, Paul, Duncan, Callum, Poulton, Joanna, Nesbitt, Victoria, Hanna, Michael G, Pitceathly, Robert D S, Taylor, Robert W, Blakely, Emma L, Schaefer, Andrew M, Turnbull, Doug M, McFarland, Robert, Gorman, Gráinne S
Publicado 2021