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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
Deterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice
Gray AL, Annan L, Dick JRT, et al.
Disease models & mechanisms, 2020
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
Molenaar JP, Verhoeven JI, Rodenburg RJ, et al.
Brain : a journal of neurology, 2020, 143, 2, p 452
Improving specialised care for neuromuscular patients reduces the frequency of preventable emergency hospital admissions
Scalco RS, Quinlivan RM, Nastasi L, et al.
Neuromuscular disorders : NMD, 2020, p 173
Musclesense: a Trained, Artificial Neural Network for the Anatomical Segmentation of Lower Limb Magnetic Resonance Images in Neuromuscular Diseases
Kanber B, Morrow JM, Klickovic U, et al.
Neuroinformatics, 2020
Skeletal Muscle Channelopathies
Vivekanandam V, Munot P, Hanna MG, et al.
Neurologic clinics, 2020, 38, 3, p 481
Managing pregnancy and anaesthetics in patients with skeletal muscle channelopathies
Raja Rayan DL, Hanna MG
Neuromuscular disorders : NMD, 2020, 30, 7, p 539
Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial
Hanna MG, Badrising UA, Benveniste O, et al.
The Lancet. Neurology, 2019, 18, 9, p 834
Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity
Klickovic U, Zampedri L, Sinclair CDJ, et al.
Neurology, 2019, 93, 9
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre
Bugiardini E, Khan AM, Phadke R, et al.
Neuromuscular disorders : NMD, 2019
Focused HLA analysis in Caucasians with myositis identifies significant associations with autoantibody subgroups.
Rothwell S, Chinoy H, Lamb JA, et al.
Annals of the rheumatic diseases, 2019, 78, n7, p 996
Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints.
Murphy AP, Morrow J, Dahlqvist JR, et al.
Annals of clinical and translational neurology, 2019, 6, 6, p 1033
Community exercise is feasible for neuromuscular diseases and can improve aerobic capacity
Wallace A, Wallace A, Pietrusz A, et al.
Neurology, 2019, 92, 15
Semi-Automated Analysis of Diaphragmatic Motion with Dynamic Magnetic Resonance Imaging in Healthy Controls and Non-Ambulant Subjects with Duchenne Muscular Dystrophy
Bishop CA, Ricotti V, Sinclair CDJ, et al.
Frontiers in neurology, 2018, 9
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
Review of the Diagnosis and Treatment of Periodic Paralysis
Statland JM, Fontaine B, Hanna MG, et al.
Muscle & Nerve, 2018, 57, 4, p 522
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype
Matthews E, Neuwirth C, Jaffer F, et al.
Neurology, 2018, 90, 5, p 412
Cytosolic 5'-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis
Lilleker JB, Rietveld A, Pye SR, et al.
Annals of the rheumatic diseases, 2017, 76, 5, p 862
Immune-array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity across the Myositis Spectrum
Rothwell S, Cooper RG, Lundberg IE, et al.
Arthritis & rheumatology (Hoboken, N.J.), 2017, 69, 5, p 1090
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy
Manole A, Jaunmuktane Z, Hargreaves I, et al.
Brain : a journal of neurology, 2017, 140, 11, p 2820
Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene
Palmio J, Sandell S, Hanna MG, et al.
Neurology, 2017, 88, 16, p 1520
