1
Blottner D, Salanova M. The neuromuscular system: from earth to space life science : neuromuscular cell signalling in disuse and exercise. Cham: Springer 2015.
2
Benson MKD. Children’s neuromuscular disorders. London: Springer 2011.
3
Shaibani A. A Video Atlas of Neuromuscular Disorders. Oxford University Press 2014.
4
Hilton-Jones D, Turner MR, editors. Oxford textbook of neuromuscular disorders. [Oxford]: Oxford University Press 2014.
5
Kernell D. The Motoneurone and its Muscle Fibres. Oxford University Press 2006.
6
Amato AA, Russell JA. Neuromuscular disorders. New York: McGraw-Hill 2008.
7
Jain KK, editor. Applied neurogenomics. New York, NY: Humana Press 2015.
8
Davies AM. Regulation of Neuronal Survival by Neurotrophins in the Developing Peripheral Nervous System. Patterning and Cell Type Specification in the Developing CNS and PNS. Elsevier 2013:303–11.
9
Gordon T, Sulaiman OA. Nerve Regeneration in the Peripheral Nervous System. In: Kettenmann H, ed. Neuroglia. Oxford University Press 2012:701–14.
10
Welch MB, Brummett CM. Peripheral Nervous SystemAnatomy and Function. In: Mashour GA, Lydic R, eds. Neuroscientific Foundations of Anesthesiology. Oxford University Press 2011:133–40.
11
Rossor AM, Tomaselli PJ, Reilly MM. Recent advances in the genetic neuropathies. Current Opinion in Neurology. Published Online First: September 2016. doi: 10.1097/WCO.0000000000000373
12
Rossor AM, Evans MRB, Reilly MM. A practical approach to the genetic neuropathies. Practical Neurology. 2015;15:187–98. doi: 10.1136/practneurol-2015-001095
13
AM Rossor. Recent advances in the genetic neuropathies. Current opinion in neurology. 2016;29. doi: 10.1097/WCO.0000000000000373
14
Reilly M, Fridman V. Inherited Neuropathies. Seminars in Neurology. 2015;35:407–23. doi: 10.1055/s-0035-1558981
15
Rossor AM, Evans MRB, Reilly MM. A practical approach to the genetic neuropathies. Practical Neurology. 2015;15:187–98. doi: 10.1136/practneurol-2015-001095
16
Pasterkamp RJ. Getting neural circuits into shape with semaphorins. Nature Reviews Neuroscience. 2012;13:605–18. doi: 10.1038/nrn3302
17
R Klein. Role of neurotrophins in mouse neuronal development. The FASEB Journal. 1994;8:738–44.
18
Schlosser G. Induction and specification of cranial placodes. Developmental Biology. 2006;294:303–51. doi: 10.1016/j.ydbio.2006.03.009
19
Thiede-Stan NK, Schwab ME. Attractive and repulsive factors act through multi-subunit receptor complexes to regulate nerve fiber growth. Journal of Cell Science. 2015;128:2403–14. doi: 10.1242/jcs.165555
20
Irina Dudanova. Genetic Evidence for a Contribution of EphA:EphrinA Reverse Signaling to Motor Axon Guidance. Journal of Neuroscience. 2012;32:5209–15.
21
Wang L, Klein R, Zheng B, et al. Anatomical Coupling of Sensory and Motor Nerve Trajectory via Axon Tracking. Neuron. 2011;71:263–77. doi: 10.1016/j.neuron.2011.06.021
22
Van Battum EY, Brignani S, Pasterkamp RJ. Axon guidance proteins in neurological disorders. The Lancet Neurology. 2015;14:532–46. doi: 10.1016/S1474-4422(14)70257-1
23
Kao T-J, Law C, Kania A. Eph and ephrin signaling: Lessons learned from spinal motor neurons. Seminars in Cell & Developmental Biology. 2012;23:83–91. doi: 10.1016/j.semcdb.2011.10.016
24
Byung-Yong Park. Induction and Segregation of the Vertebrate Cranial Placodes. Published Online First: 2010.
25
Taniguchi M, Yuasa S, Fujisawa H, et al. Disruption of Semaphorin III/D Gene Causes Severe Abnormality in Peripheral Nerve Projection. Neuron. 1997;19:519–30. doi: 10.1016/S0896-6273(00)80368-2
26
Ebens A, Brose K, Leonardo ED, et al. Hepatocyte Growth Factor/Scatter Factor Is an Axonal Chemoattractant and a Neurotrophic Factor for Spinal Motor Neurons. Neuron. 1996;17:1157–72. doi: 10.1016/S0896-6273(00)80247-0
27
A. Caton. The branchial arches and HGF are growth-promoting and chemoattractant for cranial motor axons. Development. ;127:1751–66.
28
Conover JC, Erickson JT, Katz DM, et al. Neuronal deficits, not involving motor neurons, in mice lacking BDNF and/or NT4. Nature. 1995;375:235–8. doi: 10.1038/375235a0
29
Jessen KR, Mirsky R. The origin and development of glial cells in peripheral nerves. Nature Reviews Neuroscience. 2005;6:671–82. doi: 10.1038/nrn1746
30
Monk KR, Feltri ML, Taveggia C. New insights on schwann cell development. Glia. 2015;63:1376–93. doi: 10.1002/glia.22852
31
Jessen KR, Mirsky R, Lloyd AC. Schwann Cells: Development and Role in Nerve Repair. Cold Spring Harbor Perspectives in Biology. 2015;7. doi: 10.1101/cshperspect.a020487
32
Salzer JL. Schwann Cell Myelination. Cold Spring Harbor Perspectives in Biology. 2015;7. doi: 10.1101/cshperspect.a020529
33
Arthur-Farraj PJ, Latouche M, Wilton DK, et al. c-Jun Reprograms Schwann Cells of Injured Nerves to Generate a Repair Cell Essential for Regeneration. Neuron. 2012;75:633–47. doi: 10.1016/j.neuron.2012.06.021
34
Brosius Lutz A, Barres BA. Contrasting the Glial Response to Axon Injury in the Central and Peripheral Nervous Systems. Developmental Cell. 2014;28:7–17. doi: 10.1016/j.devcel.2013.12.002
35
Jessen KR, Mirsky R. The repair Schwann cell and its function in regenerating nerves. The Journal of Physiology. 2016;594:3521–31. doi: 10.1113/JP270874
36
Auer-Grumbach M. Hereditary sensory and autonomic neuropathies. Peripheral Nerve Disorders. Elsevier 2013:893–906.
37
Davidson GL, Murphy SM, Polke JM, et al. Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. Journal of Neurology. 2012;259:1673–85. doi: 10.1007/s00415-011-6397-y
38
Rossor AM, Evans MRB, Reilly MM. A practical approach to the genetic neuropathies. Practical Neurology. 2015;15:187–98. doi: 10.1136/practneurol-2015-001095
39
Chhabra A. Peripheral MR Neurography. Neuroimaging Clinics of North America. 2014;24:79–89. doi: 10.1016/j.nic.2013.03.033
40
Purves D. Neuroscience. Bethesda: National Library of Medicine 2001.
41
Effects of axon diameter and myelination (video) | Khan Academy. https://www.khanacademy.org/science/health-and-medicine/nervous-system-and-sensory-infor/neuron-membrane-potentials-2014-03-27T17:58:17.207Z/v/effects-of-axon-diameter-and-myelination
42
Nerve Signaling. https://www.nobelprize.org/educational/medicine/nerve_signaling/index.html
43
Duncan JS, Winston GP, Koepp MJ, et al. Brain imaging in the assessment for epilepsy surgery. The Lancet Neurology. 2016;15:420–33. doi: 10.1016/S1474-4422(15)00383-X
44
Nowell M, Sparks R, Zombori G, et al. Resection planning in extratemporal epilepsy surgery using 3D multimodality imaging and intraoperative MRI. British Journal of Neurosurgery. 2017;31:468–70. doi: 10.1080/02688697.2016.1265086
45
Vakharia VN, Sparks R, O’Keeffe AG, et al. Accuracy of intracranial electrode placement for stereoelectroencephalography: A systematic review and meta-analysis. Epilepsia. 2017;58:921–32. doi: 10.1111/epi.13713
46
Michell A. Understanding EMG. Oxford University Press 2013.
47
Preston DC, Shapiro BE. Electromyography and neuromuscular disorders: clinical-electrophysiologic correlations. 3rd ed. London: Elsevier Saunders 2013.
48
Top tips for writing a lay summary | The Academy of Medical Sciences. https://acmedsci.ac.uk/more/news/10-tips-for-writing-a-lay-summary
49
How to Write a Lay Summary | Digital Curation Centre. http://www.dcc.ac.uk/resources/how-guides/write-lay-summary
50
Free guides. http://www.plainenglish.co.uk/free-guides.html
51
Part two - The specifics - Access to Understanding. http://www.access2understanding.org/guidance/part-two-the-specifics/
52
Readable | Free Readability Test Tool. https://www.webpagefx.com/tools/read-able/
53
Rees JH. Paraneoplastic syndromes: when to suspect, how to confirm, and how to manage. Journal of Neurology, Neurosurgery & Psychiatry. 2004;75:ii43–50. doi: 10.1136/jnnp.2004.040378
54
Antoine J-C, Camdessanché J-P. Paraneoplastic disorders of the peripheral nervous system. La Presse Médicale. 2013;42:e235–44. doi: 10.1016/j.lpm.2013.01.059
55
How to Write a Lay Summary | DCC How-to Guides. http://www.dcc.ac.uk/resources/how-guides/
56
Rossor AM, Evans MRB, Reilly MM. A practical approach to the genetic neuropathies. Practical Neurology. 2015;15:187–98. doi: 10.1136/practneurol-2015-001095
57
Rossor AM, Kalmar B, Greensmith L, et al. The distal hereditary motor neuropathies. Journal of Neurology, Neurosurgery & Psychiatry. 2012;83:6–14. doi: 10.1136/jnnp-2011-300952
58
Rossor AM, Carr AS, Devine H, et al. Peripheral neuropathy in complex inherited diseases: an approach to diagnosis. Journal of Neurology, Neurosurgery & Psychiatry. 2017;88:846–63. doi: 10.1136/jnnp-2016-313960
59
Carr AS, Pelayo-Negro AL, Evans MR, et al. A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK. Journal of Neurology, Neurosurgery & Psychiatry. 2016;87:620–7. doi: 10.1136/jnnp-2015-310907
60
Hawkins PN, Ando Y, Dispenzeri A, et al. Evolving landscape in the management of transthyretin amyloidosis. Annals of Medicine. 2015;47:625–38. doi: 10.3109/07853890.2015.1068949
61
Plante-Bordeneuve V, Ferreira A, Lalu T, et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology. 2007;69:693–8. doi: 10.1212/01.wnl.0000267338.45673.f4
62
Dubrey S, Ackermann E, Gillmore J. The transthyretin amyloidoses: advances in therapy. Postgraduate Medical Journal. 2015;91:439–48. doi: 10.1136/postgradmedj-2014-133224
63
Dimachkie MM, Barohn RJ. Guillain-Barré Syndrome and Variants. Neurologic Clinics. 2013;31:491–510. doi: 10.1016/j.ncl.2013.01.005
64
Willison HJ, Jacobs BC, van Doorn PA. Guillain-Barré syndrome. The Lancet. 2016;388:717–27. doi: 10.1016/S0140-6736(16)00339-1
65
Collins MP, Hadden RD. The nonsystemic vasculitic neuropathies. Nature Reviews Neurology. 2017;13:302–16. doi: 10.1038/nrneurol.2017.42
66
Yates M, Watts RA, Bajema IM, et al. EULAR/ERA-EDTA recommendations for the management of ANCA-associated vasculitis. Annals of the Rheumatic Diseases. 2016;75:1583–94. doi: 10.1136/annrheumdis-2016-209133
67
Collins MP, Dyck PJB, Gronseth GS, et al. Peripheral Nerve Society Guideline* on the classification, diagnosis, investigation, and immunosuppressive therapy of non-systemic vasculitic neuropathy: executive summary. Journal of the Peripheral Nervous System. 2010;15:176–84. doi: 10.1111/j.1529-8027.2010.00281.x
68
Berthelsen MP, Husu E, Christensen SB, et al. Anti-gravity training improves walking capacity and postural balance in patients with muscular dystrophy. Neuromuscular Disorders. 2014;24:492–8. doi: 10.1016/j.nmd.2014.03.001
69
Cup EH, Pieterse AJ, ten Broek-Pastoor JM, et al. Exercise Therapy and Other Types of Physical Therapy for Patients With Neuromuscular Diseases: A Systematic Review. Archives of Physical Medicine and Rehabilitation. 2007;88:1452–64. doi: 10.1016/j.apmr.2007.07.024
70
Strength training and aerobic exercise training for muscle disease - van der Kooi - 2005 - The Cochrane Library - Wiley Online Library.
71
Sveen M-L, Andersen SP, Ingelsrud LH, et al. Resistance training in patients with limb-girdle and becker muscular dystrophies. Muscle & Nerve. 2013;47:163–9. doi: 10.1002/mus.23491
72
Jeppesen TD, Schwartz M, Olsen DB, et al. Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy. Brain. 2006;129:3402–12. doi: 10.1093/brain/awl149
73
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. https://www.minervamedica.it/en/journals/europa-medicophysica/article.php?cod=R33Y2013N02A0169
74
Michael P. Wiggs. Can endurance exercise preconditioning prevention disuse muscle atrophy? Frontiers in Physiology. 2015;6. doi: 10.3389/fphys.2015.00063
75
Keith Baar. Using Molecular Biology to Maximize Concurrent Training. Sports Medicine (Auckland, N.z). 2014;44. doi: 10.1007/s40279-014-0252-0
76
Craig DM, Ashcroft SP, Belew MY, et al. Utilizing small nutrient compounds as enhancers of exercise-induced mitochondrial biogenesis. Frontiers in Physiology. 2015;6. doi: 10.3389/fphys.2015.00296
77
Hoier B, Hellsten Y. Exercise-Induced Capillary Growth in Human Skeletal Muscle and the Dynamics of VEGF. Microcirculation. 2014;21:301–14. doi: 10.1111/micc.12117
78
Hardie DG. AMPK: A Key Sensor of Fuel and Energy Status in Skeletal Muscle. Physiology. 2006;21:48–60. doi: 10.1152/physiol.00044.2005
79
Hawley JA, Hargreaves M, Joyner MJ, et al. Integrative Biology of Exercise. Cell. 2014;159:738–49. doi: 10.1016/j.cell.2014.10.029
80
Jones DA, Haan A de, Round JM. Skeletal muscle from molecules to movement: a textbook of muscle physiology for sport, exercise, physiotherapy and medicine. Edinburgh: Churchill Livingstone 2004.
81
A. M. Gordon. Regulation of Contraction in Striated Muscle. Physiological Reviews. 2000;80:853–924.
82
R Bottinelli. Force-velocity properties of human skeletal muscle fibres: myosin heavy chain isoform and temperature dependence. The Journal of Physiology. 1996;495.
83
Harridge SDR, Bottinelli R, Canepari M, et al. Whole-muscle and single-fibre contractile properties and myosin heavy chain isoforms in humans. Pflügers Archiv - European Journal of Physiology. 1996;432:913–20. doi: 10.1007/s004240050215
84
By:Hunter, S (Hunter, S); White, M (White, M); Thompson, M (Thompson, M). Techniques to evaluate elderly human muscle function: A physiological basis. JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES. 1998;53.
85
O’Brien TD, Reeves ND, Baltzopoulos V, et al. In vivo measurements of muscle specific tension in adults and children. Experimental Physiology. 2010;95:202–10. doi: 10.1113/expphysiol.2009.048967
86
Clarke C, Howard R, Rossor M, et al. Neurology: a Queen Square textbook. Chichester: Wiley-Blackwell 2009.
87
Neuromuscular Disease Centre. http://neuromuscular.wustl.edu/
88
Richard J. Barohn. A PATTERN RECOGNITION APPROACH TO THE PATIENT WITH A SUSPECTED MYOPATHY. Neurologic clinics. 2014;32. doi: 10.1016/j.ncl.2014.04.008
89
Wattjes MP, Kley RA, Fischer D. Neuromuscular imaging in inherited muscle diseases. European Radiology. 2010;20:2447–60. doi: 10.1007/s00330-010-1799-2
90
Morrow JM, Sinclair CDJ, Fischmann A, et al. MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study. The Lancet Neurology. 2016;15:65–77. doi: 10.1016/S1474-4422(15)00242-2
91
Briggs D, Morgan JE. Recent progress in satellite cell/myoblast engraftment - relevance for therapy. FEBS Journal. 2013;280:4281–93. doi: 10.1111/febs.12273
92
Peter S. Zammit. Muscle satellite cells adopt divergent fates: a mechanism for self-renewal? The Journal of Cell Biology. 2004;166. doi: 10.1083/jcb.200312007
93
Boldrin L, Morgan JE. Activating muscle stem cells: therapeutic potential in muscle diseases. Current Opinion in Neurology. 2007;20:577–82. doi: 10.1097/WCO.0b013e3282ef5919
94
Boldrin L, Zammit PS, Morgan JE. Satellite cells from dystrophic muscle retain regenerative capacity. Stem Cell Research. 2015;14:20–9. doi: 10.1016/j.scr.2014.10.007
95
Ross J, Benn A, Jonuschies J, et al. Defects in Glycosylation Impair Satellite Stem Cell Function and Niche Composition in the Muscles of the Dystrophic Large Mouse. STEM CELLS. 2012;30:2330–41. doi: 10.1002/stem.1197
96
Ravenscroft G, Davis MR, Lamont P, et al. New era in genetics of early-onset muscle disease: Breakthroughs and challenges. Seminars in Cell & Developmental Biology. 2017;64:160–70. doi: 10.1016/j.semcdb.2016.08.002
97
Ravenscroft G, Laing NG, Bönnemann CG. Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus. Brain. 2015;138:246–68. doi: 10.1093/brain/awu368
98
North KN, Wang CH, Clarke N, et al. Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders. 2014;24:97–116. doi: 10.1016/j.nmd.2013.11.003
99
Quijano-Roy S, Carlier RY, Fischer D. Muscle Imaging in Congenital Myopathies. Seminars in Pediatric Neurology. 2011;18:221–9. doi: 10.1016/j.spen.2011.10.003
100
Kimberly Amburgey. A natural history study of X-linked myotubular myopathy. Neurology. 2017;89. doi: 10.1212/WNL.0000000000004415
101
Irene Colombo. Congenital myopathies: Natural history of a large pediatric cohort. Neurology. 2015;84. doi: 10.1212/WNL.0000000000001110
102
Guidance for Paediatric Physiotherapists - Managing Neuromuscular Disorders. http://apcp.csp.org.uk/publications/guidance-paediatric-physiotherapists-managing-neuromuscular-disorders
103
APCP. http://apcp.csp.org.uk/
104
Neuromuscular | Department of Neurology. https://neuro.wustl.edu/education/fellowships/neuromuscular/
105
Muscular Dystrophy UK. http://www.musculardystrophyuk.org/
106
Hollak CEM, Lachmann R, editors. Inherited metabolic disease in adults: a clinical guide. [New York]: Oxford University Press 2016.
107
Saudubray JM, Baumgartner MR, Walter J, editors. Inborn metabolic diseases: diagnosis and treatment. 6th edition. Berlin: Springer 2016.
108
Hoffmann GF, Zschocke J, Nyhan WL. Inherited metabolic diseases: a clinical approach. Heidelberg: Springer 2009.
109
Machado P, Brady S, Hanna MG. Update in inclusion body myositis. Current Opinion in Rheumatology. 2013;25:763–71. doi: 10.1097/01.bor.0000434671.77891.9a
110
Machado PM, Dimachkie MM, Barohn RJ. Sporadic inclusion body myositis. Current Opinion in Neurology. 2014;27:591–8. doi: 10.1097/WCO.0000000000000129
111
Machado PM, Ahmed M, Brady S, et al. Ongoing Developments in Sporadic Inclusion Body Myositis. Current Rheumatology Reports. 2014;16. doi: 10.1007/s11926-014-0477-9
112
Mhoriam Ahmed. Targeting Protein Homeostasis in Sporadic Inclusion Body Myositis. Science translational medicine. 2016;8. doi: 10.1126/scitranslmed.aad4583
113
Needham M, Mastaglia FL. Sporadic inclusion body myositis: A review of recent clinical advances and current approaches to diagnosis and treatment. Clinical Neurophysiology. 2016;127:1764–73. doi: 10.1016/j.clinph.2015.12.011
114
Schröder R, Schoser B. Myofibrillar Myopathies: A Clinical and Myopathological Guide. Brain Pathology. 2009;19:483–92. doi: 10.1111/j.1750-3639.2009.00289.x
115
Amato AA, Greenberg SA. Inflammatory Myopathies. CONTINUUM: Lifelong Learning in Neurology. 2013;19:1615–33. doi: 10.1212/01.CON.0000440662.26427.bd
116
Olivé M, Kley RA, Goldfarb LG. Myofibrillar myopathies. Current Opinion in Neurology. 2013;26:527–35. doi: 10.1097/WCO.0b013e328364d6b1
117
Carstens P-O, Schmidt J. Diagnosis, pathogenesis and treatment of myositis: recent advances. Clinical & Experimental Immunology. 2014;175:349–58. doi: 10.1111/cei.12194
118
Dalakas MC. Inflammatory Muscle Diseases. New England Journal of Medicine. 2015;372:1734–47. doi: 10.1056/NEJMra1402225
119
Great Britain. Audit Commission for Local Authorities and the National Health Service in England and Wales. What Seems to Be the Matter Communication (National Health Service Report). Stationery Office .
120
T. D. Bunker. An information leaflet for surgical patients. Annals of The Royal College of Surgeons of England. 1983;65.
121
Toolkit for producing patient information.pdf.
122
Garner M, Ning Z, Francis J. A framework for the evaluation of patient information leaflets. Health Expectations. 2012;15:283–94. doi: 10.1111/j.1369-7625.2011.00665.x
123
C F George. Prescription information leaflets: a pilot study in general practice. British Medical Journal (Clinical research ed). 1983;287.
124
Hollingsworth KG, de Sousa PL, Straub V, et al. 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. 2012;22:S54–67. doi: 10.1016/j.nmd.2012.06.005
125
Wattjes MP, Fischer D. Neuromuscular imaging. New York: Springer 2013.
126
Forbes SC, Willcocks RJ, Triplett WT, et al. Magnetic Resonance Imaging and Spectroscopy Assessment of Lower Extremity Skeletal Muscles in Boys with Duchenne Muscular Dystrophy: A Multicenter Cross Sectional Study. PLoS ONE. 2014;9. doi: 10.1371/journal.pone.0106435
127
Glover GH, Schneider E. Three-point dixon technique for true water/fat decomposition withB0 inhomogeneity correction. Magnetic Resonance in Medicine. 1991;18:371–83. doi: 10.1002/mrm.1910180211
128
Willcocks RJ, Rooney WD, Triplett WT, et al. Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort. Annals of Neurology. 2016;79:535–47. doi: 10.1002/ana.24599
129
Jean-Yves Hogrel. Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy. Neurology. 2016;86. doi: 10.1212/WNL.0000000000002464
130
American Journal of Roentgenology.
131
Hollak CEM, Lachmann R, editors. Inherited metabolic disease in adults: a clinical guide. [New York]: Oxford University Press 2016.
132
Nancy D Leslie. Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. Published Online First: 2014.
133
Thomas Wieser. Carnitine Palmitoyltransferase II Deficiency. Published Online First: 2017.
134
Miguel A Martín. Glycogen Storage Disease Type V. Published Online First: 2014.
135
Nancy Leslie. Pompe Disease. Published Online First: 2017.
136
Ørngreen MC, Vissing J. Treatment Opportunities in Patients With Metabolic Myopathies. Current Treatment Options in Neurology. 2017;19. doi: 10.1007/s11940-017-0473-2
137
Olpin SE, Murphy E, Kirk RJ, et al. The investigation and management of metabolic myopathies. Journal of Clinical Pathology. 2015;68:410–7. doi: 10.1136/jclinpath-2014-202808
138
Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. The Lancet Neurology. 2003;2:731–40. doi: 10.1016/S1474-4422(03)00585-4
139
Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. The Lancet Neurology. 2010;9:77–93. doi: 10.1016/S1474-4422(09)70271-6
140
Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. The Lancet Neurology. 2010;9:177–89. doi: 10.1016/S1474-4422(09)70272-8
141
Ricotti V, Ridout DA, Scott E, et al. Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy. Journal of Neurology, Neurosurgery & Psychiatry. 2013;84:698–705. doi: 10.1136/jnnp-2012-303902
142
Goemans NM, Tulinius M, van den Akker JT, et al. Systemic Administration of PRO051 in Duchenne’s Muscular Dystrophy. New England Journal of Medicine. 2011;364:1513–22. doi: 10.1056/NEJMoa1011367
143
Mendell JR, Rodino-Klapac LR, Sahenk Z, et al. Eteplirsen for the treatment of Duchenne muscular dystrophy. Annals of Neurology. 2013;74:637–47. doi: 10.1002/ana.23982
144
Mendell JR, Goemans N, Lowes LP, et al. Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy. Annals of Neurology. 2016;79:257–71. doi: 10.1002/ana.24555
145
Kinali M, Arechavala-Gomeza V, Feng L, et al. 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. 2009;8:918–28. doi: 10.1016/S1474-4422(09)70211-X
146
Cirak S, Arechavala-Gomeza V, Guglieri M, et al. 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. 2011;378:595–605. doi: 10.1016/S0140-6736(11)60756-3
147
Bushby K, Finkel R, Wong B, et al. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle & Nerve. 2014;50:477–87. doi: 10.1002/mus.24332
148
Victorian Department of Health / University of Melbourne. https://www2.health.vic.gov.au/
149
Best Practice in Memory Services: Learning from across England.
150
Matthews E, Fialho D, Tan SV, et al. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain. 2010;133:9–22. doi: 10.1093/brain/awp294
151
Venance SL, Cannon SC, Fialho D, et al. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain. 2006;129:8–17. doi: 10.1093/brain/awh639
152
Cannon SC. Channelopathies of Skeletal Muscle Excitability. In: Terjung R, ed. Comprehensive Physiology. Hoboken, NJ, USA: John Wiley & Sons, Inc. 2011:761–90.
153
Tan SV, Matthews E, Barber M, et al. Refined exercise testing can aid dna-based diagnosis in muscle channelopathies. Annals of Neurology. 2011;69:328–40. doi: 10.1002/ana.22238
154
Sharp L, Trivedi JR. Treatment and Management of Neuromuscular Channelopathies. Current Treatment Options in Neurology. 2014;16. doi: 10.1007/s11940-014-0313-6
155
Paganoni S, Amato A. Electrodiagnostic Evaluation of Myopathies. Physical Medicine and Rehabilitation Clinics of North America. 2013;24:193–207. doi: 10.1016/j.pmr.2012.08.017
156
Fuglsang-Frederiksen A. The role of different EMG methods in evaluating myopathy. Clinical Neurophysiology. 2006;117:1173–89. doi: 10.1016/j.clinph.2005.12.018
157
Ferlini A, Scotton C, Novelli G. Biomarkers in Rare Diseases. Public Health Genomics. 2013;16:313–21. doi: 10.1159/000355938
158
Boers, M (Boers, M); Brooks, P (Brooks, P); Strand, CV (Strand, CV); Tugwell, P (Tugwell, P). The OMERACT filter for outcome measures in rheumatology. JOURNAL OF RHEUMATOLOGY JOURNAL OF RHEUMATOLOGY. 1998;25:198–9.
159
Conwit RA, Bhanushali MJ, Porter JD, et al. Adding more muscle and nerve to clinical trials. Muscle & Nerve. 2011;44:695–702. doi: 10.1002/mus.22130
160
Qualification Process for Drug Development Tools.
161
Ahmed M, Machado PM, Miller A, et al. Targeting protein homeostasis in sporadic inclusion body myositis. Science Translational Medicine. 2016;8:331ra41-331ra41. doi: 10.1126/scitranslmed.aad4583
162
A Cruz-Martínez. Single fiber electromyography (SFEMG) in mitochondrial diseases (MD). Electromyography and clinical neurophysiology. 2004.
163
Hull J, Aniapravan R, Chan E, et al. British Thoracic Society guideline for respiratory management of children with neuromuscular weakness. Thorax. 2012;67:i1–40. doi: 10.1136/thoraxjnl-2012-201964
164
American Journal of Respiratory and Critical Care Medicine.
165
Ward S. Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia. Thorax. 2005;60:1019–24. doi: 10.1136/thx.2004.037424
166
Safety and efficacy of diaphragm pacing in patients with respiratory insufficiency due to amyotrophic lateral sclerosis (DiPALS): a multicentre, open-label, randomised controlled trial. The Lancet Neurology. 2015;14:883–92. doi: 10.1016/S1474-4422(15)00152-0
167
Woollacott IOC, Rohrer JD. The clinical spectrum of sporadic and familial forms of frontotemporal dementia. Journal of Neurochemistry. 2016;138:6–31. doi: 10.1111/jnc.13654
168
Gordon E, Rohrer JD, Fox NC. Advances in neuroimaging in frontotemporal dementia. Journal of Neurochemistry. 2016;138:193–210. doi: 10.1111/jnc.13656
169
Li L, Xiong W-C, Mei L. Neuromuscular Junction Formation, Aging, and Disorders. Annual Review of Physiology. 2018;80. doi: 10.1146/annurev-physiol-022516-034255
170
Singhal N, Martin PT. Role of extracellular matrix proteins and their receptors in the development of the vertebrate neuromuscular junction. Developmental Neurobiology. 2011;71:982–1005. doi: 10.1002/dneu.20953
171
Nishimune H, Valdez G, Jarad G, et al. Laminins promote postsynaptic maturation by an autocrine mechanism at the neuromuscular junction. The Journal of Cell Biology. 2008;182:1201–15. doi: 10.1083/jcb.200805095
172
Nishimune H. Active zones of mammalian neuromuscular junctions: formation, density, and aging. Annals of the New York Academy of Sciences. 2012;1274:24–32. doi: 10.1111/j.1749-6632.2012.06836.x
173
Rudolf R, Khan MM, Labeit S, et al. Degeneration of Neuromuscular Junction in Age and Dystrophy. Frontiers in Aging Neuroscience. 2014;6. doi: 10.3389/fnagi.2014.00099
174
Otto M, Bowser R, Turner M, et al. Roadmap and standard operating procedures for biobanking and discovery of neurochemical markers in ALS. Amyotrophic Lateral Sclerosis. 2012;13:1–10. doi: 10.3109/17482968.2011.627589
175
Simon NG, Turner MR, Vucic S, et al. Quantifying disease progression in amyotrophic lateral sclerosis. Annals of Neurology. 2014;76:643–57. doi: 10.1002/ana.24273
176
Lu C-H, Macdonald-Wallis C, Gray E, et al. Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis. Neurology. 2015;84:2247–57. doi: 10.1212/WNL.0000000000001642
177
Caballero-Hernandez D, Toscano MG, Cejudo-Guillen M, et al. The ‘Omics’ of Amyotrophic Lateral Sclerosis. Trends in Molecular Medicine. 2016;22:53–67. doi: 10.1016/j.molmed.2015.11.001
178
Michael Benatar. ALS Biomarkers for Therapy Development: State of the Field & Future Directions. Muscle & nerve. 2016;53. doi: 10.1002/mus.24979
179
Ulf Andreasson. Update on ultrasensitive technologies to facilitate research on blood biomarkers for central nervous system disorders. Alzheimer’s & Dementia : Diagnosis, Assessment & Disease Monitoring. 2016;3. doi: 10.1016/j.dadm.2016.05.005
180
Kang J-H, Korecka M, Figurski MJ, et al. The Alzheimer’s Disease Neuroimaging Initiative 2 Biomarker Core: A review of progress and plans. Alzheimer’s & Dementia. 2015;11:772–91. doi: 10.1016/j.jalz.2015.05.003
181
Al-Chalabi A, van den Berg LH, Veldink J. Gene discovery in amyotrophic lateral sclerosis: implications for clinical management. Nature Reviews Neurology. 2016;13:96–104. doi: 10.1038/nrneurol.2016.182
182
Carrì MT, D’Ambrosi N, Cozzolino M. Pathways to mitochondrial dysfunction in ALS pathogenesis. Biochemical and Biophysical Research Communications. 2017;483:1187–93. doi: 10.1016/j.bbrc.2016.07.055
183
Lin G, Mao D, Bellen HJ. Amyotrophic Lateral Sclerosis Pathogenesis Converges on Defects in Protein Homeostasis Associated with TDP-43 Mislocalization and Proteasome-Mediated Degradation Overload. Fly Models of Human Diseases. Elsevier 2017:111–71.
184
Monahan Z, Shewmaker F, Pandey UB. Stress granules at the intersection of autophagy and ALS. Brain Research. 2016;1649:189–200. doi: 10.1016/j.brainres.2016.05.022
185
Ruegsegger C, Saxena S. Proteostasis impairment in ALS. Brain Research. 2016;1648:571–9. doi: 10.1016/j.brainres.2016.03.032
186
Renton AE, Chiò A, Traynor BJ. State of play in amyotrophic lateral sclerosis genetics. Nature Neuroscience. 2014;17:17–23. doi: 10.1038/nn.3584
187
Jessell TM. Neuronal specification in the spinal cord: inductive signals and transcriptional codes. Nature Reviews Genetics. 2000;1:20–9. doi: 10.1038/35049541
188
Harland R. Neural induction. Current Opinion in Genetics & Development. 2000;10:357–62. doi: 10.1016/S0959-437X(00)00096-4
189
Dasen JS, Jessell TM. Chapter Six Hox Networks and the Origins of Motor Neuron Diversity. Hox Genes. Elsevier 2009:169–200.
190
Bonanomi D, Pfaff SL. Motor Axon Pathfinding. Cold Spring Harbor Perspectives in Biology. 2010;2:a001735–a001735. doi: 10.1101/cshperspect.a001735
191
Darabid H, Perez-Gonzalez AP, Robitaille R. Neuromuscular synaptogenesis: coordinating partners with multiple functions. Nature Reviews Neuroscience. 2014;15:703–18. doi: 10.1038/nrn3821
192
Kanning KC, Kaplan A, Henderson CE. Motor Neuron Diversity in Development and Disease. Annual Review of Neuroscience. 2010;33:409–40. doi: 10.1146/annurev.neuro.051508.135722
193
Ladle DR, Pecho-Vrieseling E, Arber S. Assembly of Motor Circuits in the Spinal Cord: Driven to Function by Genetic and Experience-Dependent Mechanisms. Neuron. 2007;56:270–83. doi: 10.1016/j.neuron.2007.09.026
194
Robert M. Brownstone. Spinal interneurons providing input to the final common path during locomotion. Progress in brain research. 2010;187. doi: 10.1016/B978-0-444-53613-6.00006-X
195
O’Connor E, Töpf A, Zahedi R, et al. Clinical and research strategies for limb-girdle congenital myasthenic syndromes. Annals of the New York Academy of Sciences. Published Online First: 5 January 2018. doi: 10.1111/nyas.13520
196
Andrew G. Engel. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. The Lancet Neurology. 2015;14. doi: 10.1016/S1474-4422(14)70201-7
197
Cruz PMR, Palace J, Beeson D. Congenital myasthenic syndromes and the neuromuscular junction. Current Opinion in Neurology. 2014;27:566–75. doi: 10.1097/WCO.0000000000000134
198
Rodríguez Cruz PM, Palace J, Beeson D. Inherited disorders of the neuromuscular junction: an update. Journal of Neurology. 2014;261:2234–43. doi: 10.1007/s00415-014-7520-7
199
Belaya K, Rodríguez Cruz PM, Liu WW, et al. Mutations in cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain. 2015;138:2493–504. doi: 10.1093/brain/awv185
200
Rodríguez Cruz PM, Sewry C, Beeson D, et al. Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature. Neuromuscular Disorders. 2014;24:1103–10. doi: 10.1016/j.nmd.2014.07.005
201
Crisp SJ, Kullmann DM, Vincent A. Autoimmune synaptopathies. Nature Reviews Neuroscience. 2016;17:103–17. doi: 10.1038/nrn.2015.27
202
Gilhus NE. Myasthenia Gravis. New England Journal of Medicine. 2016;375:2570–81. doi: 10.1056/NEJMra1602678
203
Matthew N Meriggioli. Autoimmune myasthenia gravis: emerging clinical and biological heterogeneity. Lancet neurology. 2009;8. doi: 10.1016/S1474-4422(09)70063-8
204
Spillane J, Beeson DJ, Kullmann DM. Myasthenia and related disorders of the neuromuscular junction. Journal of Neurology, Neurosurgery & Psychiatry. 2010;81:850–7. doi: 10.1136/jnnp.2008.169367
205
Orrell, Richard WBarclay, Chris. Diagnosis and management of motor neurone disease. Practitioner. ;260:17–21.
206
Morgan S, Orrell RW. Pathogenesis of amyotrophic lateral sclerosis. British Medical Bulletin. 2016;119:87–98. doi: 10.1093/bmb/ldw026
207
Fuller G, Manford M. Neurology: an illustrated colour text. 3rd ed. Edinburgh: Churchill Livingstone 2010.
208
Couratier P, Corcia P, Lautrette G, et al. Epidemiology of amyotrophic lateral sclerosis: A review of literature. Revue Neurologique. 2016;172:37–45. doi: 10.1016/j.neurol.2015.11.002
209
Motor neurone disease: assessment and management | Guidance and guidelines | NICE.
210
Vincent A. Timeline: Unravelling the pathogenesis of myasthenia gravis. Nature Reviews Immunology. 2002;2:797–804. doi: 10.1038/nri916
211
Leslie Jacobson. Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice. Journal of Clinical Investigation. 1999;103. doi: 10.1172/JCI5943
212
Hoch W, McConville J, Helms S, et al. Auto-antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies. Nature Medicine. 2001;7:365–8. doi: 10.1038/85520
213
Koneczny I, Cossins J, Vincent A. The role of muscle-specific tyrosine kinase (MuSK) and mystery of MuSK myasthenia gravis. Journal of Anatomy. 2014;224:29–35. doi: 10.1111/joa.12034
214
Viegas S, Jacobson L, Waters P, et al. Passive and active immunization models of MuSK-Ab positive myasthenia: Electrophysiological evidence for pre and postsynaptic defects. Experimental Neurology. 2012;234:506–12. doi: 10.1016/j.expneurol.2012.01.025
215
Koneczny I, Cossins J, Waters P, et al. MuSK Myasthenia Gravis IgG4 Disrupts the Interaction of LRP4 with MuSK but Both IgG4 and IgG1-3 Can Disperse Preformed Agrin-Independent AChR Clusters. PLoS ONE. 2013;8. doi: 10.1371/journal.pone.0080695
216
Crisp SJ, Kullmann DM, Vincent A. Autoimmune synaptopathies. Nature Reviews Neuroscience. 2016;17:103–17. doi: 10.1038/nrn.2015.27
217
Beryl B. Cummings. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science translational medicine. 2017;9. doi: 10.1126/scitranslmed.aal5209
218
Schofield D, Alam K, Douglas L, et al. Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases. npj Genomic Medicine. 2017;2. doi: 10.1038/s41525-017-0006-7
219
O’Grady GL, Lek M, Lamande SR, et al. Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. Annals of Neurology. 2016;80:101–11. doi: 10.1002/ana.24687
220
Bönnemann CG, Wang CH, Quijano-Roy S, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscular Disorders. 2014;24:289–311. doi: 10.1016/j.nmd.2013.12.011
221
North KN, Wang CH, Clarke N, et al. Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders. 2014;24:97–116. doi: 10.1016/j.nmd.2013.11.003
222
Menezes MP, North KN. Inherited neuromuscular disorders: Pathway to diagnosis. Journal of Paediatrics and Child Health. 2012;48:458–65. doi: 10.1111/j.1440-1754.2011.02210.x
223
Milestones timeline : Nature Milestones in DNA. https://www.nature.com/milestones/miledna/timeline.html
224
Metzker ML. Sequencing technologies — the next generation. Nature Reviews Genetics. 2010;11:31–46. doi: 10.1038/nrg2626
225
Yang Y, Muzny DM, Reid JG, et al. Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders. New England Journal of Medicine. 2013;369:1502–11. doi: 10.1056/NEJMoa1306555
226
Sun Y, Ruivenkamp CAL, Hoffer MJV, et al. Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome? Human Mutation. 2015;36:648–55. doi: 10.1002/humu.22783
227
Ghaoui R, Cooper ST, Lek M, et al. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy. JAMA Neurology. 2015;72. doi: 10.1001/jamaneurol.2015.2274
228
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine. 2015;17:405–23. doi: 10.1038/gim.2015.30
229
Gabrielle Natalie Samuel. The UK’s 100,000 Genomes Project: manifesting policymakers’ expectations. New Genetics and Society. 2017;36. doi: 10.1080/14636778.2017.1370671
230
Samuel GN, Farsides B. Public trust and ‘ethics review’ as a commodity: the case of Genomics England Limited and the UK’s 100,000 genomes project. Medicine, Health Care and Philosophy. Published Online First: 30 October 2017. doi: 10.1007/s11019-017-9810-1
231
Vaithinathan AG, Asokan V. Public health and precision medicine share a goal. Journal of Evidence-Based Medicine. 2017;10:76–80. doi: 10.1111/jebm.12239
232
Griffin BH, Chitty LS, Bitner-Glindzicz M. The 100 000 Genomes Project: What it means for paediatrics. Archives of disease in childhood - Education & practice edition. 2017;102:105–7. doi: 10.1136/archdischild-2016-311029
233
Evers MM, Toonen LJA, van Roon-Mom WMC. Antisense oligonucleotides in therapy for neurodegenerative disorders. Advanced Drug Delivery Reviews. 2015;87:90–103. doi: 10.1016/j.addr.2015.03.008
234
Karin E. Lundin. Oligonucleotide Therapies: The Past and the Present. Human Gene Therapy. 2015;26. doi: 10.1089/hum.2015.070
235
Khorkova O, Wahlestedt C. Oligonucleotide therapies for disorders of the nervous system. Nature Biotechnology. 2017;35:249–63. doi: 10.1038/nbt.3784
236
Aartsma-Rus A. Overview on AON Design. In: Aartsma-Rus A, ed. Exon Skipping. Totowa, NJ: Humana Press 2012:117–29.
237
Rossor AM, Reilly MM, Sleigh JN. Antisense oligonucleotides and other genetic therapies made simple. Practical Neurology. Published Online First: 17 February 2018. doi: 10.1136/practneurol-2017-001764
238
Wood N. Neurogenetics. Cambridge: Cambridge University Press 2012.
239
Clarke C, Howard R, Rossor M, et al., editors. Neurology. Chichester, UK: John Wiley &;#38; Sons, Ltd 2016.
240
OMIM - Online Mendelian Inheritance in Man. https://www.omim.org/
241
Teboul L, Hérault Y, Smith C, et al. Introduction to Mammalian Genome Special Issue: Genome Editing. Mammalian Genome. 2017;28:235–6. doi: 10.1007/s00335-017-9708-5
242
Fernández A, Josa S, Montoliu L. A history of genome editing in mammals. Mammalian Genome. 2017;28:237–46. doi: 10.1007/s00335-017-9699-2
243
Marie-Christine Birling. Modeling human disease in rodents by CRISPR/Cas9 genome editing. Mammalian Genome. 2017;28. doi: 10.1007/s00335-017-9703-x
244
Greenfield A. Editing mammalian genomes: ethical considerations. Mammalian Genome. 2017;28:388–93. doi: 10.1007/s00335-017-9702-y
245
Addgene: CRISPR Guide. https://www.addgene.org/crispr/guide/
246
MGI-Mouse Genome Informatics -The international database resource for the laboratory mouse. http://www.informatics.jax.org/
247
Rossor AM, Tomaselli PJ, Reilly MM. Recent advances in the genetic neuropathies. Current Opinion in Neurology. Published Online First: September 2016. doi: 10.1097/WCO.0000000000000373
248
Rossor AM, Evans MRB, Reilly MM. A practical approach to the genetic neuropathies. Practical Neurology. 2015;15:187–98. doi: 10.1136/practneurol-2015-001095
