Ahmed, M. et al. (2016) ‘Targeting protein homeostasis in sporadic inclusion body myositis’, Science Translational Medicine, 8(331), pp. 331ra41-331ra41. Available at: https://doi.org/10.1126/scitranslmed.aad4583.
Amato, A.A. and Greenberg, S.A. (2013) ‘Inflammatory Myopathies’, CONTINUUM: Lifelong Learning in Neurology, 19, pp. 1615–1633. Available at: https://doi.org/10.1212/01.CON.0000440662.26427.bd.
‘An information leaflet for surgical patients.’ (1983) Annals of The Royal College of Surgeons of England, 65(4). Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2494353/.
Atherton, P.J. and Smith, K. (2012a) ‘Muscle protein synthesis in response to nutrition and exercise’, The Journal of Physiology, 590(5), pp. 1049–1057. Available at: https://doi.org/10.1113/jphysiol.2011.225003.
Atherton, P.J. and Smith, K. (2012b) ‘Muscle protein synthesis in response to nutrition and exercise’, The Journal of Physiology, 590(5), pp. 1049–1057. Available at: https://doi.org/10.1113/jphysiol.2011.225003.
Baar, K. (2014a) ‘Using Molecular Biology to Maximize Concurrent Training’, Sports Medicine, 44(S2), pp. 117–125. Available at: https://doi.org/10.1007/s40279-014-0252-0.
Baar, K. (2014b) ‘Using Molecular Biology to Maximize Concurrent Training’, Sports Medicine, 44(S2), pp. 117–125. Available at: https://doi.org/10.1007/s40279-014-0252-0.
Baioni, M.T.C. and Ambiel, C.R. (2010) ‘Spinal muscular atrophy: diagnosis, treatment and future prospects’, Jornal de Pediatria, 86(4), pp. 261–270. Available at: https://doi.org/10.2223/JPED.1988.
Balance and walking involvement in facioscapulohumeral dystrophy: a pilot study on the effects of custom lower limb orthoses - European Journal of Physical and Rehabilitation Medicine 2013 April;49(2):169-78 - Minerva Medica - Journals (no date). Available at: https://www.minervamedica.it/en/journals/europa-medicophysica/article.php?cod=R33Y2013N02A0169.
Barohn, R.J., Dimachkie, M.M. and Jackson, C.E. (2014) ‘A Pattern Recognition Approach to Patients with a Suspected Myopathy’, Neurologic Clinics, 32(3), pp. 569–593. Available at: https://doi.org/10.1016/j.ncl.2014.04.008.
Berthelsen, M.P. et al. (2014) ‘Anti-gravity training improves walking capacity and postural balance in patients with muscular dystrophy’, Neuromuscular Disorders, 24(6), pp. 492–498. Available at: https://doi.org/10.1016/j.nmd.2014.03.001.
Boldrin, L. and Morgan, J.E. (2007) ‘Activating muscle stem cells: therapeutic potential in muscle diseases’, Current Opinion in Neurology, 20(5), pp. 577–582. Available at: https://doi.org/10.1097/WCO.0b013e3282ef5919.
Boldrin, L., Zammit, P.S. and Morgan, J.E. (2015) ‘Satellite cells from dystrophic muscle retain regenerative capacity’, Stem Cell Research, 14(1), pp. 20–29. Available at: https://doi.org/10.1016/j.scr.2014.10.007.
Briggs, D. and Morgan, J.E. (2013) ‘Recent progress in satellite cell/myoblast engraftment - relevance for therapy’, FEBS Journal, 280(17), pp. 4281–4293. Available at: https://doi.org/10.1111/febs.12273.
Bushby, K. et al. (2010a) ‘Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management’, The Lancet Neurology, 9(1), pp. 77–93. Available at: https://doi.org/10.1016/S1474-4422(09)70271-6.
Bushby, K. et al. (2010b) ‘Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care’, The Lancet Neurology, 9(2), pp. 177–189. Available at: https://doi.org/10.1016/S1474-4422(09)70272-8.
Bushby, K. et al. (2014) ‘Ataluren treatment of patients with nonsense mutation dystrophinopathy’, Muscle & Nerve, 50(4), pp. 477–487. Available at: https://doi.org/10.1002/mus.24332.
By:Gordon, AM (Gordon, AM); Homsher, E (Homsher, E); Regnier, M (Regnier, M) (2000) ‘Regulation of contraction in striated muscle’, PHYSIOLOGICAL REVIEWS PHYSIOLOGICAL REVIEWS, 80(2), pp. 853–924. Available at: http://apps.webofknowledge.com/full_record.do?product=WOS&search_mode=GeneralSearch&qid=13&SID=C49BOGnSGP9s3PqA3ow&page=1&doc=1.
By:Jones, SW (Jones, SW); Hill, RJ (Hill, RJ); Krasney, PA (Krasney, PA); O’Conner, B (O’Conner, B); Peirce, N (Peirce, N); Greenhaff, PL (Greenhaff, PL) (2004) ‘Disuse atrophy and exercise rehabilitation in humans profoundly affects the expression of genes associated with the regulation of skeletal muscle mass’, FASEB JOURNAL FASEB JOURNAL, 18(6). Available at: https://doi.org/10.1096/fj.03-1228fje.
Carstens, P.-O. and Schmidt, J. (2014) ‘Diagnosis, pathogenesis and treatment of myositis: recent advances’, Clinical & Experimental Immunology, 175(3), pp. 349–358. Available at: https://doi.org/10.1111/cei.12194.
Cirak, S. et al. (2011) ‘Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study’, The Lancet, 378(9791), pp. 595–605. Available at: https://doi.org/10.1016/S0140-6736(11)60756-3.
Craig, D.M. et al. (2015) ‘Utilizing small nutrient compounds as enhancers of exercise-induced mitochondrial biogenesis’, Frontiers in Physiology, 6. Available at: https://doi.org/10.3389/fphys.2015.00296.
Cup, E.H. et al. (2007) ‘Exercise Therapy and Other Types of Physical Therapy for Patients With Neuromuscular Diseases: A Systematic Review’, Archives of Physical Medicine and Rehabilitation, 88(11), pp. 1452–1464. Available at: https://doi.org/10.1016/j.apmr.2007.07.024.
Dalakas, M.C. (2015) ‘Inflammatory Muscle Diseases’, New England Journal of Medicine, 372(18), pp. 1734–1747. Available at: https://doi.org/10.1056/NEJMra1402225.
Darras, B.T., De Vivo, D.C. and Jones, H.R. (2003) Neuromuscular disorders of infancy, childhood, and adolescence: a clinician’s approach. Philadelphia, Penn. ; London: Butterworth-Heinemann.
Department of Health (2003) ‘Toolkit for Producing Patient Information, Version 2’. London: Crown copyright. Available at: https://www.uea.ac.uk/documents/246046/0/Toolkit+for+producing+patient+information.pdf.
Dubowitz, V., Sewry, C.A. and Oldfors, A. (2013) Muscle biopsy: a practical approach. Fourth edition. [Philadelphia, Pa.]: Saunders Elsevier.
Egner, I.M. et al. (2013) ‘A cellular memory mechanism aids overload hypertrophy in muscle long after an episodic exposure to anabolic steroids’, The Journal of Physiology, 591(24), pp. 6221–6230. Available at: https://doi.org/10.1113/jphysiol.2013.264457.
Feingold, B. et al. (2017) ‘Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association’, Circulation, 136(13). Available at: https://doi.org/10.1161/CIR.0000000000000526.
Fitts, R.H. et al. (2010) ‘Prolonged space flight-induced alterations in the structure and function of human skeletal muscle fibres’, The Journal of Physiology, 588(18), pp. 3567–3592. Available at: https://doi.org/10.1113/jphysiol.2010.188508.
Forbes, S.C. et al. (2014) ‘Magnetic Resonance Imaging and Spectroscopy Assessment of Lower Extremity Skeletal Muscles in Boys with Duchenne Muscular Dystrophy: A Multicenter Cross Sectional Study’, PLoS ONE, 9(9). Available at: https://doi.org/10.1371/journal.pone.0106435.
‘Force-velocity properties of human skeletal muscle fibres: myosin heavy chain isoform and temperature dependence.’ (1996) The Journal of Physiology, 495(Pt 2). Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1160815/.
Fuglsang-Frederiksen, A. (2006) ‘The role of different EMG methods in evaluating myopathy’, Clinical Neurophysiology, 117(6), pp. 1173–1189. Available at: https://doi.org/10.1016/j.clinph.2005.12.018.
Garner, M., Ning, Z. and Francis, J. (2012) ‘A framework for the evaluation of patient information leaflets’, Health Expectations, 15(3), pp. 283–294. Available at: https://doi.org/10.1111/j.1369-7625.2011.00665.x.
Glover, G.H. and Schneider, E. (1991) ‘Three-point dixon technique for true water/fat decomposition withB0 inhomogeneity correction’, Magnetic Resonance in Medicine, 18(2), pp. 371–383. Available at: https://doi.org/10.1002/mrm.1910180211.
Goemans, N.M. et al. (2011) ‘Systemic Administration of PRO051 in Duchenne’s Muscular Dystrophy’, New England Journal of Medicine, 364(16), pp. 1513–1522. Available at: https://doi.org/10.1056/NEJMoa1011367.
Great Britain. Audit Commission for Local Authorities and the National Health Service in England and Wales. (no date) What Seems to Be the Matter Communication (National Health Service Report). Stationery Office. Available at: https://webarchive.nationalarchives.gov.uk/20150410163038/http://archive.audit-commission.gov.uk/auditcommission/aboutus/publications/pages/national-reports-and-studies-archive.aspx.html.
Hardie, D.G. and Sakamoto, K. (2006) ‘AMPK: A Key Sensor of Fuel and Energy Status in Skeletal Muscle’, Physiology, 21(1), pp. 48–60. Available at: https://doi.org/10.1152/physiol.00044.2005.
Harridge, S.D.R. et al. (1996) ‘Whole-muscle and single-fibre contractile properties and myosin heavy chain isoforms in humans’, Pflügers Archiv - European Journal of Physiology, 432(5), pp. 913–920. Available at: https://doi.org/10.1007/s004240050215.
Hawley, J.A. et al. (2014) ‘Integrative Biology of Exercise’, Cell, 159(4), pp. 738–749. Available at: https://doi.org/10.1016/j.cell.2014.10.029.
Hoffmann, G.F., Zschocke, J. and Nyhan, W.L. (eds) (2017) Inherited metabolic diseases: a clinical approach. Second edition. Berlin: Springer.
Hogrel, J.-Y. et al. (2016) ‘Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy’, Neurology, 86(11), pp. 1022–1030. Available at: https://doi.org/10.1212/WNL.0000000000002464.
Hoier, B. and Hellsten, Y. (2014) ‘Exercise-Induced Capillary Growth in Human Skeletal Muscle and the Dynamics of VEGF’, Microcirculation, 21(4), pp. 301–314. Available at: https://doi.org/10.1111/micc.12117.
Hollak, C.E.M. and Lachmann, R. (eds) (2016a) Inherited Metabolic Disease in Adults. Oxford University Press. Available at: https://doi.org/10.1093/med/9780199972135.001.0001.
Hollak, C.E.M. and Lachmann, R. (eds) (2016b) Inherited Metabolic Disease in Adults. Oxford University Press. Available at: https://doi.org/10.1093/med/9780199972135.001.0001.
Hollingsworth, K.G. et al. (2012) ‘Towards harmonization of protocols for MRI outcome measures in skeletal muscle studies: Consensus recommendations from two TREAT-NMD NMR workshops, 2 May 2010, Stockholm, Sweden, 1–2 October 2009, Paris, France’, Neuromuscular Disorders, 22, pp. S54–S67. Available at: https://doi.org/10.1016/j.nmd.2012.06.005.
Hunter, S., White, M. and Thompson, M. (1998) ‘Techniques to Evaluate Elderly Human Muscle Function: A Physiological Basis’, The Journals of Gerontology Series A: Biological Sciences and Medical Sciences, 53A(3), pp. B204–B216. Available at: https://doi.org/10.1093/gerona/53A.3.B204.
Institute of Neurology, Queen Square and National Hospital for Neurology and Neurosurgery (London, England) (2016) Neurology: a Queen Square textbook. Second edition. Edited by C. Clarke et al. Chichester, West Sussex, UK: John Wiley & Sons, Inc. Available at: https://onlinelibrary.wiley.com/doi/book/10.1002/9781118486160.
Jeppesen, T.D. et al. (2006) ‘Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy’, Brain, 129(12), pp. 3402–3412. Available at: https://doi.org/10.1093/brain/awl149.
Jones, D.A., Haan, A. de and Round, J.M. (2004) Skeletal muscle from molecules to movement: a textbook of muscle physiology for sport, exercise, physiotherapy and medicine. Edinburgh: Churchill Livingstone.
Kadi, F. (2008) ‘Cellular and molecular mechanisms responsible for the action of testosterone on human skeletal muscle. A basis for illegal performance enhancement’, British Journal of Pharmacology, 154(3), pp. 522–528. Available at: https://doi.org/10.1038/bjp.2008.118.
Kim, H.K. et al. (2015) ‘Quantitative Skeletal Muscle MRI: Part 2, MR Spectroscopy and T2 Relaxation Time Mapping—Comparison Between Boys With Duchenne Muscular Dystrophy and Healthy Boys’, American Journal of Roentgenology, 205(2), pp. W216–W223. Available at: https://doi.org/10.2214/AJR.14.13755.
Kinali, M. et al. (2009) ‘Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study’, The Lancet Neurology, 8(10), pp. 918–928. Available at: https://doi.org/10.1016/S1474-4422(09)70211-X.
Machado, P., Brady, S. and Hanna, M.G. (2013) ‘Update in inclusion body myositis’, Current Opinion in Rheumatology, 25(6), pp. 763–771. Available at: https://doi.org/10.1097/01.bor.0000434671.77891.9a.
Machado, P.M. et al. (2014) ‘Ongoing Developments in Sporadic Inclusion Body Myositis’, Current Rheumatology Reports, 16(12). Available at: https://doi.org/10.1007/s11926-014-0477-9.
Machado, P.M., Dimachkie, M.M. and Barohn, R.J. (2014) ‘Sporadic inclusion body myositis’, Current Opinion in Neurology, 27(5), pp. 591–598. Available at: https://doi.org/10.1097/WCO.0000000000000129.
Marcotte, G.R., West, D.W.D. and Baar, K. (2015) ‘The Molecular Basis for Load-Induced Skeletal Muscle Hypertrophy’, Calcified Tissue International, 96(3), pp. 196–210. Available at: https://doi.org/10.1007/s00223-014-9925-9.
Matthews, E. and Hanna, M.G. (2014) ‘Skeletal muscle channelopathies’, in D. Hilton-Jones and M.R. Turner (eds) Oxford Textbook of Neuromuscular Disorders. Oxford University Press, pp. 316–325. Available at: https://doi.org/10.1093/med/9780199698073.003.0031.
Mendell, J.R. et al. (2013) ‘Eteplirsen for the treatment of Duchenne muscular dystrophy’, Annals of Neurology, 74(5), pp. 637–647. Available at: https://doi.org/10.1002/ana.23982.
Mendell, J.R. et al. (2016) ‘Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy’, Annals of Neurology, 79(2), pp. 257–271. Available at: https://doi.org/10.1002/ana.24555.
Mercuri, E., Bertini, E. and Iannaccone, S.T. (2012) ‘Childhood spinal muscular atrophy: controversies and challenges’, The Lancet Neurology, 11(5), pp. 443–452. Available at: https://doi.org/10.1016/S1474-4422(12)70061-3.
Miguel A Martín (2014) ‘Glycogen Storage Disease Type V’, Gene Reviews [Preprint]. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1344/.
Muntoni, F., Torelli, S. and Ferlini, A. (2003) ‘Dystrophin and mutations: one gene, several proteins, multiple phenotypes’, The Lancet Neurology, 2(12), pp. 731–740. Available at: https://doi.org/10.1016/S1474-4422(03)00585-4.
Nancy D Leslie (2018) ‘Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency’, Gene Reviews [Preprint]. Available at: https://www.ncbi.nlm.nih.gov/books/NBK6816/.
Nancy Leslie (2017) ‘Pompe Disease’, Gene Reviews [Preprint]. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1261/.
Needham, M. and Mastaglia, F.L. (2016) ‘Sporadic inclusion body myositis: A review of recent clinical advances and current approaches to diagnosis and treatment’, Clinical Neurophysiology, 127(3), pp. 1764–1773. Available at: https://doi.org/10.1016/j.clinph.2015.12.011.
Neuromuscular Disease Center (no date). Available at: https://neuromuscular.wustl.edu/.
‘Neuropathology and Applied Neurobiology’ (no date), Volume 43, Issue 1. Available at: https://onlinelibrary.wiley.com/toc/13652990/2017/43/1.
O’Brien, T.D. et al. (2010) ‘In vivo measurements of muscle specific tension in adults and children’, Experimental Physiology, 95(1), pp. 202–210. Available at: https://doi.org/10.1113/expphysiol.2009.048967.
Olivé, M., Kley, R.A. and Goldfarb, L.G. (2013) ‘Myofibrillar myopathies’, Current Opinion in Neurology, 26(5), pp. 527–535. Available at: https://doi.org/10.1097/WCO.0b013e328364d6b1.
Olpin, S.E. et al. (2015) ‘The investigation and management of metabolic myopathies’, Journal of Clinical Pathology, 68(6), pp. 410–417. Available at: https://doi.org/10.1136/jclinpath-2014-202808.
Ørngreen, M.C. and Vissing, J. (2017) ‘Treatment Opportunities in Patients With Metabolic Myopathies’, Current Treatment Options in Neurology, 19(11). Available at: https://doi.org/10.1007/s11940-017-0473-2.
Paganoni, S. and Amato, A. (2013) ‘Electrodiagnostic Evaluation of Myopathies’, Physical Medicine and Rehabilitation Clinics of North America, 24(1), pp. 193–207. Available at: https://doi.org/10.1016/j.pmr.2012.08.017.
‘Prescription information leaflets: a pilot study in general practice.’ (1983) British Medical Journal (Clinical research ed.), 287(6400). Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1549423/.
Puthucheary, Z.A. et al. (2013) ‘Acute Skeletal Muscle Wasting in Critical Illness’, JAMA, 310(15). Available at: https://doi.org/10.1001/jama.2013.278481.
Rennie, M.J. et al. (2004a) ‘Control of the Size of the Human Muscle Mass’, Annual Review of Physiology, 66(1), pp. 799–828. Available at: https://doi.org/10.1146/annurev.physiol.66.052102.134444.
Rennie, M.J. et al. (2004b) ‘Control of the Size of the Human Muscle Mass’, Annual Review of Physiology, 66(1), pp. 799–828. Available at: https://doi.org/10.1146/annurev.physiol.66.052102.134444.
Ricotti, V. et al. (2013) ‘Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy’, Journal of Neurology, Neurosurgery & Psychiatry, 84(6), pp. 698–705. Available at: https://doi.org/10.1136/jnnp-2012-303902.
Ross, J. et al. (2012) ‘Defects in Glycosylation Impair Satellite Stem Cell Function and Niche Composition in the Muscles of the Dystrophic Large Mouse’, STEM CELLS, 30(10), pp. 2330–2341. Available at: https://doi.org/10.1002/stem.1197.
Rudnik-Schöneborn, S. et al. (2001) ‘The Predictive Value of Achieved Motor Milestones Assessed in 441 Patients with Infantile Spinal Muscular Atrophy Types II and III’, European Neurology, 45(3), pp. 174–181. Available at: https://doi.org/10.1159/000052118.
Russman, B.S. et al. (1996) ‘Function changes in spinal muscular atrophy II and III’, Neurology, 47(4), pp. 973–976. Available at: https://doi.org/10.1212/WNL.47.4.973.
Saudubray, J.M., Baumgartner, M.R. and Walter, J. (eds) (2016) Inborn metabolic diseases: diagnosis and treatment. 6th edition. Berlin: Springer.
Schröder, R. and Schoser, B. (2009) ‘Myofibrillar Myopathies: A Clinical and Myopathological Guide’, Brain Pathology, 19(3), pp. 483–492. Available at: https://doi.org/10.1111/j.1750-3639.2009.00289.x.
Shavlakadze, T. and Grounds, M. (2006) ‘Of bears, frogs, meat, mice and men: complexity of factors affecting skeletal muscle mass and fat’, BioEssays, 28(10), pp. 994–1009. Available at: https://doi.org/10.1002/bies.20479.
Sveen, M.-L. et al. (2013) ‘Resistance training in patients with limb-girdle and becker muscular dystrophies’, Muscle & Nerve, 47(2), pp. 163–169. Available at: https://doi.org/10.1002/mus.23491.
Thomas Wieser (2017) ‘Carnitine Palmitoyltransferase II Deficiency’, Gene Reviews [Preprint]. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1253/.
Velloso, C.P. (2008) ‘Regulation of muscle mass by growth hormone and IGF-I’, British Journal of Pharmacology, 154(3), pp. 557–568. Available at: https://doi.org/10.1038/bjp.2008.153.
Voet, N.B. et al. (2013) ‘Strength training and aerobic exercise training for muscle disease’, Cochrane Database of Systematic Reviews [Preprint]. Available at: https://doi.org/10.1002/14651858.CD003907.pub4.
Wang, C.H. et al. (2007) ‘Consensus Statement for Standard of Care in Spinal Muscular Atrophy’, Journal of Child Neurology, 22(8), pp. 1027–1049. Available at: https://doi.org/10.1177/0883073807305788.
Wattjes, M.P. and Fischer, D. (2013) Neuromuscular imaging. New York: Springer. Available at: http://ucl.alma.exlibrisgroup.com/view/action/uresolver.do?operation=resolveService&package_service_id=3320980190004761&institutionId=4761&customerId=4760.
Wiggs, M.P. (2015) ‘Can endurance exercise preconditioning prevention disuse muscle atrophy?’, Frontiers in Physiology, 6. Available at: https://doi.org/10.3389/fphys.2015.00063.
Willcocks, R.J. et al. (2016) ‘Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort’, Annals of Neurology, 79(4), pp. 535–547. Available at: https://doi.org/10.1002/ana.24599.
Zammit, P.S. et al. (2004) ‘Muscle satellite cells adopt divergent fates’, The Journal of Cell Biology, 166(3), pp. 347–357. Available at: https://doi.org/10.1083/jcb.200312007.
