Select Publications
Journal articles
, 2014, 'Axonal dysfunction, dysmyelination, and conduction failure in hereditary neuropathy with liability to pressure palsies', Muscle and Nerve, 49, pp. 858 - 865, http://dx.doi.org/10.1002/mus.24085
, 2014, '22.', Journal of Clinical Neuroscience, 21, pp. 2040 - 2040, http://dx.doi.org/10.1016/j.jocn.2014.06.036
, 2013, 'Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy', American Journal of Human Genetics, 93, pp. 1108 - 1117, http://dx.doi.org/10.1016/j.ajhg.2013.10.020
, 2013, 'No gain - No pain?', Journal of Neurology Neurosurgery and Psychiatry, 84, pp. 364, http://dx.doi.org/10.1136/jnnp-2012-304098
, 2013, 'Evolution of peripheral nerve function in humans: Novel insights from motor nerve excitability', The Journal of Physiology, 591, pp. 273 - 286, http://dx.doi.org/10.1113/jphysiol.2012.240820
, 2013, 'Pathophysiological Insights Derived by Natural History and Motor Function of Spinal Muscular Atrophy.', Journal of Pediatrics, 162, pp. 155 - 159, http://dx.doi.org/10.1016/j.jpeds.2012.05.067
, 2012, 'Corticomotoneuronal Integrity and Adaption in Spinal Muscular Atrophy', Archives of Neurology, 69, pp. 467 - 473, http://dx.doi.org/10.1001/archneurol.2011.1697
, 2012, 'Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia', Journal of Inherited Metabolic Disease, 35, pp. 1119 - 1128, http://dx.doi.org/10.1007/s10545-012-9461-6
, 2011, 'Dysfunction of axonal membrane conductances in adolescents and young adults with spinal muscular atrophy', Brain, 134, pp. 3185 - 3197, http://dx.doi.org/10.1093/brain/awr229
, 2010, '36. Mechanisms of neurodegeneration in spinal muscular atrophy', Journal of Clinical Neuroscience, 17, pp. 1621 - 1621, http://dx.doi.org/10.1016/j.jocn.2010.07.037
, 2010, '6. Axonal energy failure during a stroke-like episode in MELAS', Clinical Neurophysiology, 121, pp. e2 - e2, http://dx.doi.org/10.1016/j.clinph.2009.10.026
, 2010, 'Acute, reversible axonal energy failure during stroke-like episodes in MELAS', Pediatrics, 126, pp. e734 - e739
, 2009, 'Spinal muscular atrophy: Molecular mechanisms', Current Molecular Medicine, 9, pp. 851 - 862, http://dx.doi.org/10.2174/156652409789105516
, 2009, 'Teaching paediatric epilepsy to medical students: A randomised crossover trial', Journal of Paediatrics and Child Health (Vol. 48, Suppl. 2, 2012, 1–13), 45, pp. 727 - 730
, 2008, 'A teenager with mononeuritis multiplex: A case report and review of the literature', Clinical Neurophysiology, 119, pp. e22 - e23, http://dx.doi.org/10.1016/j.clinph.2007.10.046
, 2008, 'Teaching doctors how to diagnose paroxysmal events: a comparison of two educational methods', Medical Education, 42, pp. 909 - 914
, 2001, 'Combined endovascular and open surgery for four-vessel cerebrovascular occlusive disease', Journal of Endovascular Therapy, 8, pp. 62 - 66, http://dx.doi.org/10.1177/152660280100800110
, 2001, 'Combined endovascular and open surgery for four-vessel cerebrovascular occlusive disease', JOURNAL OF ENDOVASCULAR THERAPY, 8, pp. 62 - 66, http://dx.doi.org/10.1583/1545-1550(2001)008<0062:CEAOSF>2.0.CO;2