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

McMacken GM, Spendiff S, Whittaker RG, O'Connor E, Howarth RM, Boczonadi V, Horvath R, Slater CR, Lochmüller H.

Hum Mol Genet. 2019 Jul 15;28(14):2339-2351. doi: 10.1093/hmg/ddz059.


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

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R.

Genet Med. 2019 Sep;21(9):2163-2164. doi: 10.1038/s41436-019-0506-1.


Functional magnetic resonance imaging of human motor unit fasciculation in amyotrophic lateral sclerosis.

Whittaker RG, Porcari P, Braz L, Williams TL, Schofield IS, Blamire AM.

Ann Neurol. 2019 Mar;85(3):455-459. doi: 10.1002/ana.25422. Epub 2019 Feb 5.


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

Bansagi B, Phan V, Baker MR, O'Sullivan J, Jennings MJ, Whittaker RG, Müller JS, Duff J, Griffin H, Miller JAL, Gorman GS, Lochmüller H, Chinnery PF, Roos A, Swan LE, Horvath R.

Neurology. 2018 May 22;90(21):e1842-e1848. doi: 10.1212/WNL.0000000000005566. Epub 2018 May 2.


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

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R.

Genet Med. 2018 Oct;20(10):1224-1235. doi: 10.1038/gim.2017.251. Epub 2018 Mar 8. Erratum in: Genet Med. 2019 Sep;21(9):2163-2164.


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

McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H.

J Neurol. 2018 Jan;265(1):194-203. doi: 10.1007/s00415-017-8689-3. Epub 2017 Nov 30.


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

Shields MC, Bowers MR, Fulcer MM, Bollig MK, Rock PJ, Sutton BR, Vrailas-Mortimer AD, Lochmüller H, Whittaker RG, Horvath R, Reist NE.

PLoS One. 2017 Sep 27;12(9):e0184817. doi: 10.1371/journal.pone.0184817. eCollection 2017.


Seizure self-prediction: Myth or missed opportunity?

Mackay M, Mahlaba H, Gavillet E, Whittaker RG.

Seizure. 2017 Oct;51:180-185. doi: 10.1016/j.seizure.2017.08.011. Epub 2017 Sep 1. Review.


Nerve Conduction Studies as a Measure of Disease Progression: Objectivity or Illusion?

Lanza G, Kosac A, Trajkovic G, Whittaker RG.

J Neuromuscul Dis. 2017;4(3):209-215. doi: 10.3233/JND-170243.


Assessment of epilepsy using noninvasive visual psychophysics tests of surround suppression.

Yazdani P, Read JC, Whittaker RG, Trevelyan AJ.

Physiol Rep. 2017 Mar;5(5). pii: e13079. doi: 10.14814/phy2.13079.


Genetic heterogeneity of motor neuropathies.

Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmüller H, Chinnery PF, Horvath R.

Neurology. 2017 Mar 28;88(13):1226-1234. doi: 10.1212/WNL.0000000000003772. Epub 2017 Mar 1.


Slow wave sleep and accelerated forgetting.

Atherton KE, Nobre AC, Lazar AS, Wulff K, Whittaker RG, Dhawan V, Lazar ZI, Zeman AZ, Butler CR.

Cortex. 2016 Nov;84:80-89. doi: 10.1016/j.cortex.2016.08.013. Epub 2016 Sep 12.



Whittaker RG, Gorman G, Ng Y, Turnbull DM.

Ann Neurol. 2016 Aug;80(2):314. doi: 10.1002/ana.24722. Epub 2016 Jul 25. No abstract available.


The epilepsy treatment gap in rural Tanzania: A community-based study in adults.

Hunter E, Rogathi J, Chigudu S, Jusabani A, Jackson M, Whittaker RG, Gray W, McNally RJQ, Aris E, Mushi D, Walker R.

Seizure. 2016 Mar;36:49-56. doi: 10.1016/j.seizure.2016.02.008. Epub 2016 Feb 20.


Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.

Whittaker RG, Herrmann DN, Bansagi B, Hasan BA, Lofra RM, Logigian EL, Sowden JE, Almodovar JL, Littleton JT, Zuchner S, Horvath R, Lochmüller H.

Neurology. 2015 Dec 1;85(22):1964-71. doi: 10.1212/WNL.0000000000002185. Epub 2015 Oct 30.


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

Jones RS, da Silva AB, Whittaker RG, Woodhall GL, Cunningham MO.

J Neurosci Methods. 2016 Feb 15;260:221-32. doi: 10.1016/j.jneumeth.2015.09.021. Epub 2015 Oct 3. Review.


Two common psychophysical measures of surround suppression reflect independent neuronal mechanisms.

Yazdani P, Serrano-Pedraza I, Whittaker RG, Trevelyan A, Read JC.

J Vis. 2015;15(13):21. doi: 10.1167/15.13.21.


Epilepsy in adults with mitochondrial disease: A cohort study.

Whittaker RG, Devine HE, Gorman GS, Schaefer AM, Horvath R, Ng Y, Nesbitt V, Lax NZ, McFarland R, Cunningham MO, Taylor RW, Turnbull DM.

Ann Neurol. 2015 Dec;78(6):949-57. doi: 10.1002/ana.24525. Epub 2015 Nov 17.


Video telemetry: current concepts and recent advances.

Whittaker RG.

Pract Neurol. 2015 Dec;15(6):445-50. doi: 10.1136/practneurol-2015-001216. Epub 2015 Aug 13. Review.


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

Lax NZ, Grady J, Laude A, Chan F, Hepplewhite PD, Gorman G, Whittaker RG, Ng Y, Cunningham MO, Turnbull DM.

Neuropathol Appl Neurobiol. 2016 Feb;42(2):180-93. doi: 10.1111/nan.12238. Epub 2015 May 30.


Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.

Herrmann DN, Horvath R, Sowden JE, Gonzalez M, Sanchez-Mejias A, Guan Z, Whittaker RG, Almodovar JL, Lane M, Bansagi B, Pyle A, Boczonadi V, Lochmüller H, Griffin H, Chinnery PF, Lloyd TE, Littleton JT, Zuchner S.

Am J Hum Genet. 2014 Sep 4;95(3):332-9. doi: 10.1016/j.ajhg.2014.08.007. Erratum in: Am J Hum Genet. 2014 Oct 2;95(4):472. Gonzales, Michael [corrected to Gonzalez, Michael].


Teaching video neuroimages: muscle cramps and a raised creatine kinase.

Whittaker RG, Chinnery PF, Miller JA.

Neurology. 2014 Jun 17;82(24):e220-1. doi: 10.1212/WNL.0000000000000534. No abstract available.


Anti-GQ1b ganglioside positive Miller Fisher syndrome - evidence of paranodal pathology on nerve biopsy.

Miller JA, Spyropoulos A, Jaros E, Galban-Horcajo F, Whittaker RG, Willison HJ.

J Neuromuscul Dis. 2014;1(2):191-195.


Gap junction networks can generate both ripple-like and fast ripple-like oscillations.

Simon A, Traub RD, Vladimirov N, Jenkins A, Nicholson C, Whittaker RG, Schofield I, Clowry GJ, Cunningham MO, Whittington MA.

Eur J Neurosci. 2014 Jan;39(1):46-60. doi: 10.1111/ejn.12386. Epub 2013 Oct 14.


Clinical reasoning: a 39-year-old man with abdominal cramps.

Jaiser SR, Baker MR, Whittaker RG, Birchall D, Chinnery PF.

Neurology. 2013 Jul 9;81(2):e5-9. doi: 10.1212/WNL.0b013e31829a335e. No abstract available.


Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease.

Whittaker RG, Hall E, Mansoor MK, Taylor RW, Turnbull DM.

J Peripher Nerv Syst. 2013 Mar;18(1):59-61. doi: 10.1111/jns5.12009.


Initial development and validation of a mitochondrial disease quality of life scale.

Elson JL, Cadogan M, Apabhai S, Whittaker RG, Phillips A, Trennell MI, Horvath R, Taylor RW, McFarland R, McColl E, Turnbull DM, Gorman GS.

Neuromuscul Disord. 2013 Apr;23(4):324-9. doi: 10.1016/j.nmd.2012.12.012. Epub 2013 Feb 20.


All diagnoses are clinical, but some are more clinical than others.

Whittaker RG.

Pract Neurol. 2013 Feb;13(1):1. doi: 10.1136/practneurol-2012-000472. No abstract available.


Why the curious incident of the dog in the night was 'contributory'.

Whittaker RG.

Pract Neurol. 2012 Dec;12(6):397. doi: 10.1136/practneurol-2012-000415. No abstract available.


Teaching NeuroImages: alternating ptosis and Marcus Gunn jaw-winking phenomenon with PHOX2B mutation.

Basu AP, Bellis P, Whittaker RG, McKean MC, Devlin AM.

Neurology. 2012 Oct 23;79(17):e153. doi: 10.1212/WNL.0b013e3182703fe3. No abstract available.


Prevalence of active epilepsy in rural Tanzania: a large community-based survey in an adult population.

Hunter E, Rogathi J, Chigudu S, Jusabani A, Jackson M, McNally R, Gray W, Whittaker RG, Iqbal A, Birchall D, Aris E, Walker R.

Seizure. 2012 Nov;21(9):691-8. doi: 10.1016/j.seizure.2012.07.009. Epub 2012 Aug 9.


A cautionary tale: threatened compartment syndrome following electromyography in an anticoagulated patient.

Brown SM, Williams TL, Whittaker RG.

Muscle Nerve. 2012 Jul;46(1):144-5; author reply 145-6. doi: 10.1002/mus.23376. No abstract available.


Glissandi: transient fast electrocorticographic oscillations of steadily increasing frequency, explained by temporally increasing gap junction conductance.

Cunningham MO, Roopun A, Schofield IS, Whittaker RG, Duncan R, Russell A, Jenkins A, Nicholson C, Whittington MA, Traub RD.

Epilepsia. 2012 Jul;53(7):1205-14. doi: 10.1111/j.1528-1167.2012.03530.x. Epub 2012 Jun 12.


The fundamentals of electromyography.

Whittaker RG.

Pract Neurol. 2012 Jun;12(3):187-94. doi: 10.1136/practneurol-2011-000198. Review. No abstract available.


SNAPs, CMAPs and F-waves: nerve conduction studies for the uninitiated.

Whittaker RG.

Pract Neurol. 2012 Apr;12(2):108-15. doi: 10.1136/practneurol-2011-000126. Review. No abstract available.


Prevalence and severity of voice and swallowing difficulties in mitochondrial disease.

Read JL, Whittaker RG, Miller N, Clark S, Taylor R, McFarland R, Turnbull D.

Int J Lang Commun Disord. 2012 Jan-Feb;47(1):106-11. doi: 10.1111/j.1460-6984.2011.00072.x. Epub 2011 Jun 20.


Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

Lax NZ, Whittaker RG, Hepplewhite PD, Reeve AK, Blakely EL, Jaros E, Ince PG, Taylor RW, Fawcett PR, Turnbull DM.

Brain. 2012 Jan;135(Pt 1):62-71. doi: 10.1093/brain/awr326. Epub 2011 Dec 20.


Co-morbidity of epilepsy in Tanzanian children: a community-based case-control study.

Burton K, Rogathe J, Whittaker RG, Mankad K, Hunter E, Burton MJ, Todd J, Neville BG, Walker R, Newton CR.

Seizure. 2012 Apr;21(3):169-74. doi: 10.1016/j.seizure.2011.10.011. Epub 2011 Nov 29.


Testing the neuromuscular junction: what neurophysiology can offer the neurologist.

Whittaker RG.

Pract Neurol. 2011 Oct;11(5):303-7. doi: 10.1136/practneurol-2011-000029. No abstract available.


Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy.

Baker MR, Fisher KM, Whittaker RG, Griffiths PG, Yu-Wai-Man P, Chinnery PF.

Neurology. 2011 Sep 27;77(13):1309-12. doi: 10.1212/WNL.0b013e318230a15a. Epub 2011 Sep 14. No abstract available.


Mitochondrial disease in pregnancy: a systematic review.

Say RE, Whittaker RG, Turnbull HE, McFarland R, Taylor RW, Turnbull DM.

Obstet Med. 2011 Sep;4(3):90-4. doi: 10.1258/om.2011.110008. Epub 2011 Jun 23. Review.


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

Whittaker RG, Turnbull DM, Whittington MA, Cunningham MO.

Brain. 2011 Jul;134(Pt 7):e180; author reply e181. doi: 10.1093/brain/awr018. Epub 2011 Mar 4. Review. No abstract available.


Hyperventilation during the EEG is safe in mitochondrial disease.

Romaniuk L, Turnbull DM, Whittaker RG.

Clin Neurophysiol. 2011 Jun;122(6):1270-1. doi: 10.1016/j.clinph.2010.10.039. Epub 2010 Dec 15. No abstract available.


Older mothers are not at risk of having grandchildren with sporadic mtDNA deletions.

Elson JL, Apabhai S, Gorman G, Whittaker RG, Krishnan KJ.

Genet Med. 2010 May;12(5):313-4. doi: 10.1097/GIM.0b013e3181da76e3.


The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells.

Blackwood JK, Whittaker RG, Blakely EL, Alston CL, Turnbull DM, Taylor RW.

Biochem Biophys Res Commun. 2010 Mar 19;393(4):740-5. doi: 10.1016/j.bbrc.2010.02.072. Epub 2010 Feb 18.


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

Kisler JE, Whittaker RG, McFarland R.

Dev Med Child Neurol. 2010 May;52(5):422-33. doi: 10.1111/j.1469-8749.2009.03605.x. Epub 2010 Jan 5. Review.


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

Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W Jr, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P, Chinnery PF.

Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. Epub 2010 Feb 15.


A nonsynaptic mechanism underlying interictal discharges in human epileptic neocortex.

Roopun AK, Simonotto JD, Pierce ML, Jenkins A, Nicholson C, Schofield IS, Whittaker RG, Kaiser M, Whittington MA, Traub RD, Cunningham MO.

Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):338-43. doi: 10.1073/pnas.0912652107. Epub 2009 Dec 4.


Neuromuscular disease presentation with three genetic defects involving two genomes.

Al-Dosary M, Whittaker RG, Haughton J, McFarland R, Goodship J, Turnbull DM, Taylor RW.

Neuromuscul Disord. 2009 Dec;19(12):841-4. doi: 10.1016/j.nmd.2009.10.001. Epub 2009 Oct 22.


Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

Whittaker RG, Blackwood JK, Alston CL, Blakely EL, Elson JL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW.

Neurology. 2009 Feb 10;72(6):568-9. doi: 10.1212/01.wnl.0000342121.91336.4d. No abstract available.

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