1.
Blottner D, Salanova M. The Neuromuscular System: From Earth to Space Life Science : Neuromuscular Cell Signalling in Disuse and Exercise. Vol Springer briefs in space life sciences. Springer; 2015. http://UCL.eblib.com/patron/FullRecord.aspx?p=1967380
2.
Benson MKD. Children’s Neuromuscular Disorders. Springer; 2011.
3.
Shaibani A. A Video Atlas of Neuromuscular Disorders. Oxford University Press; 2014. doi:10.1093/med/9780199898152.001.0001
4.
Hilton-Jones D, Turner MR, eds. Oxford Textbook of Neuromuscular Disorders. Vol Oxford textbooks in clinical neurology. Oxford University Press; 2014. http://dx.doi.org/10.1093/med/9780199698073.001.0001
5.
Kernell D. The Motoneurone and Its Muscle Fibres. Oxford University Press; 2006. doi:10.1093/acprof:oso/9780198526551.001.0001
6.
Amato AA, Russell JA. Neuromuscular Disorders. McGraw-Hill; 2008.
7.
Jain KK, ed. Applied Neurogenomics. Vol Neuromethods. Humana Press; 2015. http://dx.doi.org/10.1007/978-1-4939-2247-5
8.
Davies AM. Regulation of Neuronal Survival by Neurotrophins in the Developing Peripheral Nervous System. In: Patterning and Cell Type Specification in the Developing CNS and PNS. Elsevier; 2013:303-311. doi:10.1016/B978-0-12-397265-1.00095-2
9.
Gordon T, Sulaiman OA. Nerve Regeneration in the Peripheral Nervous System. In: Kettenmann H, ed. Neuroglia. Oxford University Press; 2012:701-714. doi:10.1093/med/9780199794591.003.0055
10.
Welch MB, Brummett CM. Peripheral Nervous SystemAnatomy and Function. In: Mashour GA, Lydic R, eds Neuroscientific Foundations of Anesthesiology. Oxford University Press; 2011:133-140. doi:10.1093/med/9780195398243.003.0067
11.
Rossor AM, Tomaselli PJ, Reilly MM. Recent advances in the genetic neuropathies. Current Opinion in Neurology. Published online 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(3):187-198. doi:10.1136/practneurol-2015-001095
13.
AM Rossor. Recent advances in the genetic neuropathies. Current opinion in neurology. 2016;29(5). doi:10.1097/WCO.0000000000000373
14.
Reilly M, Fridman V. Inherited Neuropathies. Seminars in Neurology. 2015;35(04):407-423. doi:10.1055/s-0035-1558981
15.
Rossor AM, Evans MRB, Reilly MM. A practical approach to the genetic neuropathies. Practical Neurology. 2015;15(3):187-198. doi:10.1136/practneurol-2015-001095
16.
Pasterkamp RJ. Getting neural circuits into shape with semaphorins. Nature Reviews Neuroscience. 2012;13(9):605-618. doi:10.1038/nrn3302
17.
R Klein. Role of neurotrophins in mouse neuronal development. The FASEB Journal. 1994;8(10):738-744. http://www.fasebj.org/content/8/10/738.long
18.
Schlosser G. Induction and specification of cranial placodes. Developmental Biology. 2006;294(2):303-351. 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(14):2403-2414. 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(15):5209-5215. http://www.jneurosci.org/content/32/15/5209
21.
Wang L, Klein R, Zheng B, Marquardt T. Anatomical Coupling of Sensory and Motor Nerve Trajectory via Axon Tracking. Neuron. 2011;71(2):263-277. 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(5):532-546. doi:10.1016/S1474-4422(14)70257-1
23.
Kao TJ, Law C, Kania A. Eph and ephrin signaling: Lessons learned from spinal motor neurons. Seminars in Cell & Developmental Biology. 2012;23(1):83-91. doi:10.1016/j.semcdb.2011.10.016
24.
Byung-Yong Park. Induction and Segregation of the Vertebrate Cranial Placodes. Published online 2010. https://www.ncbi.nlm.nih.gov/books/NBK53175/
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(3):519-530. 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(6):1157-1172. 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(8):1751-1766. http://dev.biologists.org/content/127/8/1751.long
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(6528):235-238. doi:10.1038/375235a0
29.
Jessen KR, Mirsky R. The origin and development of glial cells in peripheral nerves. Nature Reviews Neuroscience. 2005;6(9):671-682. doi:10.1038/nrn1746
30.
Monk KR, Feltri ML, Taveggia C. New insights on schwann cell development. Glia. 2015;63(8):1376-1393. 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(7). doi:10.1101/cshperspect.a020487
32.
Salzer JL. Schwann Cell Myelination. Cold Spring Harbor Perspectives in Biology. 2015;7(8). 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(4):633-647. 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(1):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(13):3521-3531. doi:10.1113/JP270874
36.
Auer-Grumbach M. Hereditary sensory and autonomic neuropathies. In: Peripheral Nerve Disorders. Vol 115. Elsevier; 2013:893-906. doi:10.1016/B978-0-444-52902-2.00050-3
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(8):1673-1685. 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(3):187-198. doi:10.1136/practneurol-2015-001095
39.
Chhabra A. Peripheral MR Neurography. Neuroimaging Clinics of North America. 2014;24(1):79-89. doi:10.1016/j.nic.2013.03.033
40.
Purves D. Neuroscience. National Library of Medicine; 2001. http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowTOC&rid=neurosci.TOC&depth=2
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, Ourselin S. Brain imaging in the assessment for epilepsy surgery. The Lancet Neurology. 2016;15(4):420-433. 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(4):468-470. 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(6):921-932. doi:10.1111/epi.13713
46.
Michell A. Understanding EMG. Oxford University Press; 2013. doi:10.1093/med/9780199595501.001.0001
47.
Preston DC, Shapiro BE. Electromyography and Neuromuscular Disorders: Clinical-Electrophysiologic Correlations. 3rd ed. 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(suppl_2):ii43-ii50. doi:10.1136/jnnp.2004.040378
54.
Antoine JC, Camdessanché JP. Paraneoplastic disorders of the peripheral nervous system. La Presse Médicale. 2013;42(6):e235-e244. 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(3):187-198. doi:10.1136/practneurol-2015-001095
57.
Rossor AM, Kalmar B, Greensmith L, Reilly MM. The distal hereditary motor neuropathies. Journal of Neurology, Neurosurgery & Psychiatry. 2012;83(1):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(10):846-863. 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(6):620-627. doi:10.1136/jnnp-2015-310907
60.
Hawkins PN, Ando Y, Dispenzeri A, Gonzalez-Duarte A, Adams D, Suhr OB. Evolving landscape in the management of transthyretin amyloidosis. Annals of Medicine. 2015;47(8):625-638. 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(7):693-698. 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(1078):439-448. doi:10.1136/postgradmedj-2014-133224
63.
Dimachkie MM, Barohn RJ. Guillain-Barré Syndrome and Variants. Neurologic Clinics. 2013;31(2):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(10045):717-727. doi:10.1016/S0140-6736(16)00339-1
65.
Collins MP, Hadden RD. The nonsystemic vasculitic neuropathies. Nature Reviews Neurology. 2017;13(5):302-316. 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(9):1583-1594. 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(3):176-184. doi:10.1111/j.1529-8027.2010.00281.x
68.
Berthelsen MP, Husu E, Christensen SB, Prahm KP, Vissing J, Jensen BR. Anti-gravity training improves walking capacity and postural balance in patients with muscular dystrophy. Neuromuscular Disorders. 2014;24(6):492-498. 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(11):1452-1464. 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. http://onlinelibrary.wiley.com/doi/10.1002/14651858.CD003907.pub2/abstract?systemMessage=Wiley+Online+Library+usage+report+download+page+will+be+unavailable+on+Friday+24th+November+2017+at+21%3A00+EST+%2F+02.00+GMT+%2F+10%3A00+SGT+%28Saturday+25th+Nov+for+SGT+
71.
Sveen ML, Andersen SP, Ingelsrud LH, et al. Resistance training in patients with limb-girdle and becker muscular dystrophies. Muscle & Nerve. 2013;47(2):163-169. 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(12):3402-3412. 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(Suppl 2). 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(4):301-314. doi:10.1111/micc.12117
78.
Hardie DG. AMPK: A Key Sensor of Fuel and Energy Status in Skeletal Muscle. Physiology. 2006;21(1):48-60. doi:10.1152/physiol.00044.2005
79.
Hawley JA, Hargreaves M, Joyner MJ, Zierath JR. Integrative Biology of Exercise. Cell. 2014;159(4):738-749. 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. Churchill Livingstone; 2004.
81.
A. M. Gordon. Regulation of Contraction in Striated Muscle. Physiological Reviews. 2000;80(2):853-924. http://physrev.physiology.org/content/80/2/853.long
82.
R Bottinelli. Force-velocity properties of human skeletal muscle fibres: myosin heavy chain isoform and temperature dependence. The Journal of Physiology. 1996;495(Pt 2). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1160815/
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(5):913-920. 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(3). https://apps.webofknowledge.com/full_record.do?product=WOS&search_mode=GeneralSearch&qid=6&SID=E3HXcKOaUmhvHimfaQi&page=1&doc=1
85.
O’Brien TD, Reeves ND, Baltzopoulos V, Jones DA, Maganaris CN. In vivo measurements of muscle specific tension in adults and children. Experimental Physiology. 2010;95(1):202-210. doi:10.1113/expphysiol.2009.048967
86.
Clarke C, Howard R, Rossor M, Shorvon SD, National Hospital for Neurology and Neurosurgery (London, England), Institute of Neurology, Queen Square. Neurology: A Queen Square Textbook. Wiley-Blackwell; 2009. http://onlinelibrary.wiley.com/book/10.1002/9781444311709
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(3). 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(10):2447-2460. 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(1):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(17):4281-4293. 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(3). 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(5):577-582. 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(1):20-29. 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(10):2330-2341. doi:10.1002/stem.1197
96.
Ravenscroft G, Davis MR, Lamont P, Forrest A, Laing NG. New era in genetics of early-onset muscle disease: Breakthroughs and challenges. Seminars in Cell & Developmental Biology. 2017;64:160-170. 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(2):246-268. 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(2):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(4):221-229. doi:10.1016/j.spen.2011.10.003
100.
Kimberly Amburgey. A natural history study of X-linked myotubular myopathy. Neurology. 2017;89(13). doi:10.1212/WNL.0000000000004415
101.
Irene Colombo. Congenital myopathies: Natural history of a large pediatric cohort. Neurology. 2015;84(1). 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, eds. Inherited Metabolic Disease in Adults: A Clinical Guide. Oxford University Press; 2016. http://dx.doi.org/10.1093/med/9780199972135.001.0001
107.
Saudubray JM, Baumgartner MR, Walter J, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 6th edition. Springer; 2016.
108.
Hoffmann GF, Zschocke J, Nyhan WL. Inherited Metabolic Diseases: A Clinical Approach. Springer; 2009. http://dx.doi.org/10.1007/978-3-540-74723-9
109.
Machado P, Brady S, Hanna MG. Update in inclusion body myositis. Current Opinion in Rheumatology. 2013;25(6):763-771. 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(5):591-598. 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(12). doi:10.1007/s11926-014-0477-9
112.
Mhoriam Ahmed. Targeting Protein Homeostasis in Sporadic Inclusion Body Myositis. Science translational medicine. 2016;8(331). 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(3):1764-1773. doi:10.1016/j.clinph.2015.12.011
114.
Schröder R, Schoser B. Myofibrillar Myopathies: A Clinical and Myopathological Guide. Brain Pathology. 2009;19(3):483-492. doi:10.1111/j.1750-3639.2009.00289.x
115.
Amato AA, Greenberg SA. Inflammatory Myopathies. CONTINUUM: Lifelong Learning in Neurology. 2013;19:1615-1633. doi:10.1212/01.CON.0000440662.26427.bd
116.
Olivé M, Kley RA, Goldfarb LG. Myofibrillar myopathies. Current Opinion in Neurology. 2013;26(5):527-535. doi:10.1097/WCO.0b013e328364d6b1
117.
Carstens PO, Schmidt J. Diagnosis, pathogenesis and treatment of myositis: recent advances. Clinical & Experimental Immunology. 2014;175(3):349-358. doi:10.1111/cei.12194
118.
Dalakas MC. Inflammatory Muscle Diseases. New England Journal of Medicine. 2015;372(18):1734-1747. 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(4). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2494353/
121.
Toolkit for producing patient information.pdf. https://www.uea.ac.uk/documents/246046/0/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(3):283-294. 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(6400). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1549423/
124.
Hollingsworth KG, de Sousa PL, Straub V, Carlier PG. 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-S67. doi:10.1016/j.nmd.2012.06.005
125.
Wattjes MP, Fischer D. Neuromuscular Imaging. Springer; 2013. https://www.dawsonera.com/abstract/9781461465522
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(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(2):371-383. 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(4):535-547. doi:10.1002/ana.24599
129.
Jean-Yves Hogrel. Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy. Neurology. 2016;86(11). doi:10.1212/WNL.0000000000002464
130.
American Journal of Roentgenology. http://www.ajronline.org/doi/abs/10.2214/AJR.14.13755
131.
Hollak CEM, Lachmann R, eds. Inherited Metabolic Disease in Adults: A Clinical Guide. Oxford University Press; 2016. http://dx.doi.org/10.1093/med/9780199972135.001.0001
132.
Nancy D Leslie. Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. Published online 2014. https://www.ncbi.nlm.nih.gov/books/NBK6816/
133.
Thomas Wieser. Carnitine Palmitoyltransferase II Deficiency. Published online 2017. https://www.ncbi.nlm.nih.gov/books/NBK1253/
134.
Miguel A Martín. Glycogen Storage Disease Type V. Published online 2014. https://www.ncbi.nlm.nih.gov/books/NBK1344/
135.
Nancy Leslie. Pompe Disease. Published online 2017. https://www.ncbi.nlm.nih.gov/books/NBK1261/
136.
Ørngreen MC, Vissing J. Treatment Opportunities in Patients With Metabolic Myopathies. Current Treatment Options in Neurology. 2017;19(11). doi:10.1007/s11940-017-0473-2
137.
Olpin SE, Murphy E, Kirk RJ, Taylor RW, Quinlivan R. The investigation and management of metabolic myopathies. Journal of Clinical Pathology. 2015;68(6):410-417. 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(12):731-740. 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(1):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(2):177-189. 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(6):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(16):1513-1522. 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(5):637-647. 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(2):257-271. 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(10):918-928. 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(9791):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(4):477-487. 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. https://www.england.nhs.uk/wp-content/uploads/2014/12/memory-clinics-final.pdf
150.
Matthews E, Fialho D, Tan SV, et al. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain. 2010;133(1):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(1):8-17. doi:10.1093/brain/awh639
152.
Cannon SC. Channelopathies of Skeletal Muscle Excitability. In: Terjung R, ed. Comprehensive Physiology. John Wiley & Sons, Inc.; 2011:761-790. doi:10.1002/cphy.c140062
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(2):328-340. doi:10.1002/ana.22238
154.
Sharp L, Trivedi JR. Treatment and Management of Neuromuscular Channelopathies. Current Treatment Options in Neurology. 2014;16(10). 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(1):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(6):1173-1189. doi:10.1016/j.clinph.2005.12.018
157.
Ferlini A, Scotton C, Novelli G. Biomarkers in Rare Diseases. Public Health Genomics. 2013;16(6):313-321. 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(2):198-199. https://contentstore.cla.co.uk/secure/link?id=caecd7db-09ea-e611-80c9-005056af4099
159.
Conwit RA, Bhanushali MJ, Porter JD, Kaufmann P, Gutmann L. Adding more muscle and nerve to clinical trials. Muscle & Nerve. 2011;44(5):695-702. doi:10.1002/mus.22130
160.
Qualification Process for Drug Development Tools. https://www.fda.gov/downloads/drugs/guidances/ucm230597.pdf
161.
Ahmed M, Machado PM, Miller A, et al. Targeting protein homeostasis in sporadic inclusion body myositis. Science Translational Medicine. 2016;8(331):331ra41-331ra41. doi:10.1126/scitranslmed.aad4583
162.
A Cruz-Martínez. Single fiber electromyography (SFEMG) in mitochondrial diseases (MD). Electromyography and clinical neurophysiology. Published online 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(Suppl 1):i1-i40. doi:10.1136/thoraxjnl-2012-201964
164.
American Journal of Respiratory and Critical Care Medicine. http://www.atsjournals.org/doi/abs/10.1164/ajrccm.161.1.9901057
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(12):1019-1024. 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(9):883-892. 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 WC, Mei L. Neuromuscular Junction Formation, Aging, and Disorders. Annual Review of Physiology. 2018;80(1). 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(11):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(6):1201-1215. 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(1):24-32. doi:10.1111/j.1749-6632.2012.06836.x
173.
Rudolf R, Khan MM, Labeit S, Deschenes MR. 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):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(5):643-657. doi:10.1002/ana.24273
176.
Lu CH, Macdonald-Wallis C, Gray E, et al. Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis. Neurology. 2015;84(22):2247-2257. 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(1):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(2). 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 JH, 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(7):772-791. 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(2):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(4):1187-1193. 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. In: Fly Models of Human Diseases. Vol 121. Elsevier; 2017:111-171. doi:10.1016/bs.ctdb.2016.07.004
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;1648:571-579. 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(1):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(1):20-29. doi:10.1038/35049541
188.
Harland R. Neural induction. Current Opinion in Genetics & Development. 2000;10(4):357-362. doi:10.1016/S0959-437X(00)00096-4
189.
Dasen JS, Jessell TM. Chapter Six Hox Networks and the Origins of Motor Neuron Diversity. In: Hox Genes. Vol 88. Elsevier; 2009:169-200. doi:10.1016/S0070-2153(09)88006-X
190.
Bonanomi D, Pfaff SL. Motor Axon Pathfinding. Cold Spring Harbor Perspectives in Biology. 2010;2(3):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(11):703-718. doi:10.1038/nrn3821
192.
Kanning KC, Kaplan A, Henderson CE. Motor Neuron Diversity in Development and Disease. Annual Review of Neuroscience. 2010;33(1):409-440. 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(2):270-283. 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 5 January 2018. doi:10.1111/nyas.13520
196.
Andrew G. Engel. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. The Lancet Neurology. 2015;14(4). 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(5):566-575. 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(11):2234-2243. 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(9):2493-2504. 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(12):1103-1110. doi:10.1016/j.nmd.2014.07.005
201.
Crisp SJ, Kullmann DM, Vincent A. Autoimmune synaptopathies. Nature Reviews Neuroscience. 2016;17(2):103-117. doi:10.1038/nrn.2015.27
202.
Gilhus NE. Myasthenia Gravis. New England Journal of Medicine. 2016;375(26):2570-2581. doi:10.1056/NEJMra1602678
203.
Matthew N Meriggioli. Autoimmune myasthenia gravis: emerging clinical and biological heterogeneity. Lancet neurology. 2009;8(5). 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(8):850-857. doi:10.1136/jnnp.2008.169367
205.
Orrell, Richard WBarclay, Chris. Diagnosis and management of motor neurone disease. Practitioner. 260:17-21. https://search.proquest.com/docview/1844334383?OpenUrlRefId=info:xri/sid:primo&accountid=14511
206.
Morgan S, Orrell RW. Pathogenesis of amyotrophic lateral sclerosis. British Medical Bulletin. 2016;119(1):87-98. doi:10.1093/bmb/ldw026
207.
Fuller G, Manford M. Neurology: An Illustrated Colour Text. 3rd ed. Churchill Livingstone; 2010. https://www.dawsonera.com/guard/protected/dawson.jsp?name=https://shib-idp.ucl.ac.uk/shibboleth&dest=http://www.dawsonera.com/depp/reader/protected/external/AbstractView/S9780702048883
208.
Couratier P, Corcia P, Lautrette G, Nicol M, Preux PM, Marin B. Epidemiology of amyotrophic lateral sclerosis: A review of literature. Revue Neurologique. 2016;172(1):37-45. doi:10.1016/j.neurol.2015.11.002
209.
Motor neurone disease: assessment and management | Guidance and guidelines | NICE. https://www.nice.org.uk/guidance/ng42
210.
Vincent A. Timeline: Unravelling the pathogenesis of myasthenia gravis. Nature Reviews Immunology. 2002;2(10):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(7). doi:10.1172/JCI5943
212.
Hoch W, McConville J, Helms S, Newsom-Davis J, Melms A, Vincent A. Auto-antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies. Nature Medicine. 2001;7(3):365-368. 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(1):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(2):506-512. doi:10.1016/j.expneurol.2012.01.025
215.
Koneczny I, Cossins J, Waters P, Beeson D, Vincent A. 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(11). doi:10.1371/journal.pone.0080695
216.
Crisp SJ, Kullmann DM, Vincent A. Autoimmune synaptopathies. Nature Reviews Neuroscience. 2016;17(2):103-117. doi:10.1038/nrn.2015.27
217.
Beryl B. Cummings. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science translational medicine. 2017;9(386). 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(1). 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(1):101-111. 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(4):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(2):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(6):458-465. 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(1):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(16):1502-1511. 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(6):648-655. 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(12). 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(5):405-423. 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(4). 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 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(2):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(2):105-107. 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(8). doi:10.1089/hum.2015.070
235.
Khorkova O, Wahlestedt C. Oligonucleotide therapies for disorders of the nervous system. Nature Biotechnology. 2017;35(3):249-263. doi:10.1038/nbt.3784
236.
Aartsma-Rus A. Overview on AON Design. In: Aartsma-Rus A, ed. Exon Skipping. Vol 867. Humana Press; 2012:117-129. doi:10.1007/978-1-61779-767-5_8
237.
Rossor AM, Reilly MM, Sleigh JN. Antisense oligonucleotides and other genetic therapies made simple. Practical Neurology. Published online 17 February 2018. doi:10.1136/practneurol-2017-001764
238.
Wood N. Neurogenetics. Cambridge University Press; 2012. doi:10.1017/CBO9781139087711
239.
Clarke C, Howard R, Rossor M, Shorvon S, eds. Neurology. John Wiley &;#38; Sons, Ltd; 2016. doi:10.1002/9781118486160
240.
OMIM - Online Mendelian Inheritance in Man. https://www.omim.org/
241.
Teboul L, Hérault Y, Smith C, Whitelaw B. Introduction to Mammalian Genome Special Issue: Genome Editing. Mammalian Genome. 2017;28(7-8):235-236. 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(7-8):237-246. 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(7). doi:10.1007/s00335-017-9703-x
244.
Greenfield A. Editing mammalian genomes: ethical considerations. Mammalian Genome. 2017;28(7-8):388-393. 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 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(3):187-198. doi:10.1136/practneurol-2015-001095
