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Homozygous C-terminal loss-of-function Na(V)1.4 variant in a patient with congenital myasthenic syndrome
Echaniz-Laguna A, Biancalana V, Nadaj-Pakleza A, et al.
Journal of neurology, neurosurgery, and psychiatry, 2020
Sodium channel myotonia may be associated with high-risk brief resolved unexplained events
Cea G, Andreu D, Fletcher E, et al.
Wellcome open research, 2020, 5, p 7
In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis
Tan SV, Suetterlin K, Männikkö R, et al.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 2020, 131, 4, p 816
Guidelines on clinical presentation and management of non-dystrophic myotonias
Stunnenberg B, LoRusso S, Arnold WD, et al.
Muscle & Nerve, 2020
Treatment Updates for Neuromuscular Channelopathies
Jitpimolmard N, Matthews E, Fialho D
Current treatment options in neurology, 2020, 22, 10, p 34
Skeletal Muscle Channelopathies
Vivekanandam V, Munot P, Hanna MG, et al.
Neurologic clinics, 2020, 38, 3, p 481
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre
Bugiardini E, Khan AM, Phadke R, et al.
Neuromuscular disorders : NMD, 2019
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies
Bugiardini E, Bugiardini E, Morrow JM, et al.
Frontiers in neurology, 2018, 9
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study
Männikkö R, Wong L, Tester DJ, et al.
Lancet (London, England), 2018, 391, 10129, p 1483
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype
Matthews E, Neuwirth C, Jaffer F, et al.
Neurology, 2018, 90, 5, p 412
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Schartner V, Romero NB, Donkervoort S, et al.
Acta neuropathologica, 2017, 133, 4, p 517
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy
Zaharieva IT, Thor MG, Oates EC, et al.
Brain : a journal of neurology, 2016, 139, Pt3, p 674
Corticosteroids for the treatment of Duchenne muscular dystrophy
Matthews E, Brassington R, Kuntzer T, et al.
Cochrane Database of Systematic Reviews, 2016, 5
Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies
Suetterlin KJ, Bugiardini E, Kaski JP, et al.
JAMA Neurology, 2015, 72, 12, p 1531
Innovative care model for patients with complex muscle diseases
Quinlivan R, Matthews E, Hanna MG
Current opinion in neurology, 2014, 27, 5, p 607
Prevalence study of genetically defined skeletal muscle channelopathies in England
Horga A, Rayan DLR, Matthews E, et al.
American Medical Association archives of neurology and psychiatry, 2013, 80, 16, p. 1472-1475
Non-dystrophic myotonia : prospective study of objective and patient reported outcomes
Trivedi JR, Bundy B, Statland J, et al.
CINCH Consortium
Brain, 2013, 136, 7, p. 2189-2200
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias
Morrow JM, Matthews E, Raja Rayan DL, et al.
Neuromuscular disorders : NMD, 2013, 23, 8, p. 637-646
A quantitative measure of handgrip myotonia in non-dystrophic myotonia
Statland JM, Bundy BN, Wang Y, et al.
Muscle & Nerve, 2012, 46, 4, p. 482-489
Stridor as a neonatal presentation of skeletal muscle sodium channelopathy
Matthews E, Manzur AY, Sud R, et al.
Archives of neurology, 2011, 68, 1, p. 127-129
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations
Forrest KML, Al-Sarraj S, Sewry C, et al.
Neuromuscular disorders : NMD, 2011, 21, 1, p. 37-40
Muscle channelopathies : does the predicted channel gating pore offer new treatment options for hypokalaemic periodic paralysis ?
Matthews E, Hanna MG
Journal of physiology (The), 2010, 588, 11, p. 1879-1886
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis
Matthews E, Labrum R, Sweeney MG, et al.
Neurology, 2009, 72, 18, p. 1544-1547
What causes paramyotonia in the United Kingdom ? Common and new SCN4A mutations revealed
Matthews E, Tan SV, Fialho D, et al.
Neurology, 2008, 70, 1, p. 50-53
