A. Caton. (n.d.). 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
A Cruz-Martínez. (2004). Single fiber electromyography (SFEMG) in mitochondrial diseases (MD). Electromyography and Clinical Neurophysiology.
A. M. Gordon. (2000). Regulation of Contraction in Striated Muscle. Physiological Reviews, 80(2), 853–924. http://physrev.physiology.org/content/80/2/853.long
Aartsma-Rus, A. (2012). Overview on AON Design. In A. Aartsma-Rus (Ed.), Exon Skipping (Vol. 867, pp. 117–129). Humana Press. https://doi.org/10.1007/978-1-61779-767-5_8
Addgene: CRISPR Guide. (n.d.). https://www.addgene.org/crispr/guide/
Ahmed, M., Machado, P. M., Miller, A., Spicer, C., Herbelin, L., He, J., Noel, J., Wang, Y., McVey, A. L., Pasnoor, M., Gallagher, P., Statland, J., Lu, C.-H., Kalmar, B., Brady, S., Sethi, H., Samandouras, G., Parton, M., Holton, J. L., … Greensmith, L. (2016). Targeting protein homeostasis in sporadic inclusion body myositis. Science Translational Medicine, 8(331), 331ra41-331ra41. https://doi.org/10.1126/scitranslmed.aad4583
Al-Chalabi, A., van den Berg, L. H., & Veldink, J. (2016). Gene discovery in amyotrophic lateral sclerosis: implications for clinical management. Nature Reviews Neurology, 13(2), 96–104. https://doi.org/10.1038/nrneurol.2016.182
AM Rossor. (2016). Recent advances in the genetic neuropathies. Current Opinion in Neurology, 29(5). https://doi.org/10.1097/WCO.0000000000000373
Amato, A. A., & Greenberg, S. A. (2013). Inflammatory Myopathies. CONTINUUM: Lifelong Learning in Neurology, 19, 1615–1633. https://doi.org/10.1212/01.CON.0000440662.26427.bd
Amato, A. A., & Russell, J. A. (2008). Neuromuscular disorders. McGraw-Hill.
American Journal of Respiratory and Critical Care Medicine. (n.d.). http://www.atsjournals.org/doi/abs/10.1164/ajrccm.161.1.9901057
American Journal of Roentgenology. (n.d.). http://www.ajronline.org/doi/abs/10.2214/AJR.14.13755
Andrew G. Engel. (2015). Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. The Lancet. Neurology, 14(4). https://doi.org/10.1016/S1474-4422(14)70201-7
Antoine, J.-C., & Camdessanché, J.-P. (2013). Paraneoplastic disorders of the peripheral nervous system. La Presse Médicale, 42(6), e235–e244. https://doi.org/10.1016/j.lpm.2013.01.059
APCP. (n.d.). http://apcp.csp.org.uk/
Arthur-Farraj, P. J., Latouche, M., Wilton, D. K., Quintes, S., Chabrol, E., Banerjee, A., Woodhoo, A., Jenkins, B., Rahman, M., Turmaine, M., Wicher, G. K., Mitter, R., Greensmith, L., Behrens, A., Raivich, G., Mirsky, R., & Jessen, K. R. (2012). c-Jun Reprograms Schwann Cells of Injured Nerves to Generate a Repair Cell Essential for Regeneration. Neuron, 75(4), 633–647. https://doi.org/10.1016/j.neuron.2012.06.021
Auer-Grumbach, M. (2013). Hereditary sensory and autonomic neuropathies. In Peripheral Nerve Disorders (Vol. 115, pp. 893–906). Elsevier. https://doi.org/10.1016/B978-0-444-52902-2.00050-3
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. (n.d.). https://www.minervamedica.it/en/journals/europa-medicophysica/article.php?cod=R33Y2013N02A0169
Belaya, K., Rodríguez Cruz, P. M., Liu, W. W., Maxwell, S., McGowan, S., Farrugia, M. E., Petty, R., Walls, T. J., Sedghi, M., Basiri, K., Yue, W. W., Sarkozy, A., Bertoli, M., Pitt, M., Kennett, R., Schaefer, A., Bushby, K., Parton, M., Lochmüller, H., … Beeson, D. (2015). Mutations in                              cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain, 138(9), 2493–2504. https://doi.org/10.1093/brain/awv185
Benson, M. K. D. (2011). Children’s neuromuscular disorders. Springer.
Berthelsen, M. P., Husu, E., Christensen, S. B., Prahm, K. P., Vissing, J., & Jensen, B. R. (2014). Anti-gravity training improves walking capacity and postural balance in patients with muscular dystrophy. Neuromuscular Disorders, 24(6), 492–498. https://doi.org/10.1016/j.nmd.2014.03.001
Beryl B. Cummings. (2017). Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science Translational Medicine, 9(386). https://doi.org/10.1126/scitranslmed.aal5209
Best Practice in Memory Services: Learning from across England. (n.d.). https://www.england.nhs.uk/wp-content/uploads/2014/12/memory-clinics-final.pdf
Blottner, D., & Salanova, M. (2015). The neuromuscular system: from earth to space life science : neuromuscular cell signalling in disuse and exercise: Vol. Springer briefs in space life sciences. Springer. http://UCL.eblib.com/patron/FullRecord.aspx?p=1967380
Boers, M (Boers, M); Brooks, P (Brooks, P); Strand, CV (Strand, CV); Tugwell, P (Tugwell, P). (1998). The OMERACT filter for outcome measures in rheumatology. JOURNAL OF RHEUMATOLOGY    JOURNAL OF RHEUMATOLOGY, 25(2), 198–199. https://contentstore.cla.co.uk/secure/link?id=caecd7db-09ea-e611-80c9-005056af4099
Boldrin, L., & Morgan, J. E. (2007). Activating muscle stem cells: therapeutic potential in muscle diseases. Current Opinion in Neurology, 20(5), 577–582. https://doi.org/10.1097/WCO.0b013e3282ef5919
Boldrin, L., Zammit, P. S., & Morgan, J. E. (2015). Satellite cells from dystrophic muscle retain regenerative capacity. Stem Cell Research, 14(1), 20–29. https://doi.org/10.1016/j.scr.2014.10.007
Bonanomi, D., & Pfaff, S. L. (2010). Motor Axon Pathfinding. Cold Spring Harbor Perspectives in Biology, 2(3), a001735–a001735. https://doi.org/10.1101/cshperspect.a001735
Bönnemann, C. G., Wang, C. H., Quijano-Roy, S., Deconinck, N., Bertini, E., Ferreiro, A., Muntoni, F., Sewry, C., Béroud, C., Mathews, K. D., Moore, S. A., Bellini, J., Rutkowski, A., & North, K. N. (2014). Diagnostic approach to the congenital muscular dystrophies. Neuromuscular Disorders, 24(4), 289–311. https://doi.org/10.1016/j.nmd.2013.12.011
Briggs, D., & Morgan, J. E. (2013). Recent progress in satellite cell/myoblast engraftment - relevance for therapy. FEBS Journal, 280(17), 4281–4293. https://doi.org/10.1111/febs.12273
Brosius Lutz, A., & Barres, B. A. (2014). Contrasting the Glial Response to Axon Injury in the Central and Peripheral Nervous Systems. Developmental Cell, 28(1), 7–17. https://doi.org/10.1016/j.devcel.2013.12.002
Bushby, K., Finkel, R., Birnkrant, D. J., Case, L. E., Clemens, P. R., Cripe, L., Kaul, A., Kinnett, K., McDonald, C., Pandya, S., Poysky, J., Shapiro, F., Tomezsko, J., & Constantin, C. (2010a). Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. The Lancet Neurology, 9(1), 77–93. https://doi.org/10.1016/S1474-4422(09)70271-6
Bushby, K., Finkel, R., Birnkrant, D. J., Case, L. E., Clemens, P. R., Cripe, L., Kaul, A., Kinnett, K., McDonald, C., Pandya, S., Poysky, J., Shapiro, F., Tomezsko, J., & Constantin, C. (2010b). Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. The Lancet Neurology, 9(2), 177–189. https://doi.org/10.1016/S1474-4422(09)70272-8
Bushby, K., Finkel, R., Wong, B., Barohn, R., Campbell, C., Comi, G. P., Connolly, A. M., Day, J. W., Flanigan, K. M., Goemans, N., Jones, K. J., Mercuri, E., Quinlivan, R., Renfroe, J. B., Russman, B., Ryan, M. M., Tulinius, M., Voit, T., Moore, S. A., … Mcdonald, C. M. (2014). Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle & Nerve, 50(4), 477–487. https://doi.org/10.1002/mus.24332
By:Hunter, S (Hunter, S); White, M (White, M); Thompson, M (Thompson, M). (1998). 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, 53(3). https://apps.webofknowledge.com/full_record.do?product=WOS&search_mode=GeneralSearch&qid=6&SID=E3HXcKOaUmhvHimfaQi&page=1&doc=1
Byung-Yong Park. (2010). Induction and Segregation of the Vertebrate Cranial Placodes. https://www.ncbi.nlm.nih.gov/books/NBK53175/
C F George. (1983). Prescription information leaflets: a pilot study in general practice. British Medical Journal (Clinical Research Ed.), 287(6400). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1549423/
Caballero-Hernandez, D., Toscano, M. G., Cejudo-Guillen, M., Garcia-Martin, M. L., Lopez, S., Franco, J. M., Quintana, F. J., Roodveldt, C., & Pozo, D. (2016). The ‘Omics’ of Amyotrophic Lateral Sclerosis. Trends in Molecular Medicine, 22(1), 53–67. https://doi.org/10.1016/j.molmed.2015.11.001
Cannon, S. C. (2011). Channelopathies of Skeletal Muscle Excitability. In R. Terjung (Ed.), Comprehensive Physiology (pp. 761–790). John Wiley & Sons, Inc. https://doi.org/10.1002/cphy.c140062
Carr, A. S., Pelayo-Negro, A. L., Evans, M. R., Laurà, M., Blake, J., Stancanelli, C., Iodice, V., Wechalekar, A. D., Whelan, C. J., Gillmore, J. D., Hawkins, P. N., & Reilly, M. M. (2016). A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK. Journal of Neurology, Neurosurgery & Psychiatry, 87(6), 620–627. https://doi.org/10.1136/jnnp-2015-310907
Carrì, M. T., D’Ambrosi, N., & Cozzolino, M. (2017). Pathways to mitochondrial dysfunction in ALS pathogenesis. Biochemical and Biophysical Research Communications, 483(4), 1187–1193. https://doi.org/10.1016/j.bbrc.2016.07.055
Carstens, P.-O., & Schmidt, J. (2014). Diagnosis, pathogenesis and treatment of myositis: recent advances. Clinical & Experimental Immunology, 175(3), 349–358. https://doi.org/10.1111/cei.12194
Chhabra, A. (2014). Peripheral MR Neurography. Neuroimaging Clinics of North America, 24(1), 79–89. https://doi.org/10.1016/j.nic.2013.03.033
Cirak, S., Arechavala-Gomeza, V., Guglieri, M., Feng, L., Torelli, S., Anthony, K., Abbs, S., Garralda, M. E., Bourke, J., Wells, D. J., Dickson, G., Wood, M. J., Wilton, S. D., Straub, V., Kole, R., Shrewsbury, S. B., Sewry, C., Morgan, J. E., Bushby, K., & Muntoni, F. (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), 595–605. https://doi.org/10.1016/S0140-6736(11)60756-3
Clarke, C., Howard, R., Rossor, M., & Shorvon, S. (Eds). (2016). Neurology. John Wiley &;#38; Sons, Ltd. https://doi.org/10.1002/9781118486160
Clarke, C., Howard, R., Rossor, M., Shorvon, S. D., National Hospital for Neurology and Neurosurgery (London, England), & Institute of Neurology, Queen Square. (2009). Neurology: a Queen Square textbook. Wiley-Blackwell. http://onlinelibrary.wiley.com/book/10.1002/9781444311709
Collins, M. P., Dyck, P. J. B., Gronseth, G. S., Guillevin, L., Hadden, R. D. M., Heuss, D., Léger, J.-M., Notermans, N. C., Pollard, J. D., Said, G., Sobue, G., Vrancken, A. F. J. E., & Kissel, J. T. (2010). 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, 15(3), 176–184. https://doi.org/10.1111/j.1529-8027.2010.00281.x
Collins, M. P., & Hadden, R. D. (2017). The nonsystemic vasculitic neuropathies. Nature Reviews Neurology, 13(5), 302–316. https://doi.org/10.1038/nrneurol.2017.42
Conover, J. C., Erickson, J. T., Katz, D. M., Bianchi, L. M., Poueymirou, W. T., McClain, J., Pan, L., Helgren, M., Ip, N. Y., Boland, P., Friedman, B., Wiegand, S., Vejsada, R., Kato, A. C., DeChiara, T. M., & Yancopoulos, G. D. (1995). Neuronal deficits, not involving motor neurons, in mice lacking BDNF and/or NT4. Nature, 375(6528), 235–238. https://doi.org/10.1038/375235a0
Conwit, R. A., Bhanushali, M. J., Porter, J. D., Kaufmann, P., & Gutmann, L. (2011). Adding more muscle and nerve to clinical trials. Muscle & Nerve, 44(5), 695–702. https://doi.org/10.1002/mus.22130
Couratier, P., Corcia, P., Lautrette, G., Nicol, M., Preux, P.-M., & Marin, B. (2016). Epidemiology of amyotrophic lateral sclerosis: A review of literature. Revue Neurologique, 172(1), 37–45. https://doi.org/10.1016/j.neurol.2015.11.002
Craig, D. M., Ashcroft, S. P., Belew, M. Y., Stocks, B., Currell, K., Baar, K., & Philp, A. (2015). Utilizing small nutrient compounds as enhancers of exercise-induced mitochondrial biogenesis. Frontiers in Physiology, 6. https://doi.org/10.3389/fphys.2015.00296
Crisp, S. J., Kullmann, D. M., & Vincent, A. (2016a). Autoimmune synaptopathies. Nature Reviews Neuroscience, 17(2), 103–117. https://doi.org/10.1038/nrn.2015.27
Crisp, S. J., Kullmann, D. M., & Vincent, A. (2016b). Autoimmune synaptopathies. Nature Reviews Neuroscience, 17(2), 103–117. https://doi.org/10.1038/nrn.2015.27
Cruz, P. M. R., Palace, J., & Beeson, D. (2014). Congenital myasthenic syndromes and the neuromuscular junction. Current Opinion in Neurology, 27(5), 566–575. https://doi.org/10.1097/WCO.0000000000000134
Cup, E. H., Pieterse, A. J., ten Broek-Pastoor, J. M., Munneke, M., van Engelen, B. G., Hendricks, H. T., van der Wilt, G. J., & Oostendorp, R. A. (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), 1452–1464. https://doi.org/10.1016/j.apmr.2007.07.024
Dalakas, M. C. (2015). Inflammatory Muscle Diseases. New England Journal of Medicine, 372(18), 1734–1747. https://doi.org/10.1056/NEJMra1402225
Darabid, H., Perez-Gonzalez, A. P., & Robitaille, R. (2014). Neuromuscular synaptogenesis: coordinating partners with multiple functions. Nature Reviews Neuroscience, 15(11), 703–718. https://doi.org/10.1038/nrn3821
Dasen, J. S., & Jessell, T. M. (2009). Chapter Six Hox Networks and the Origins of Motor Neuron Diversity. In Hox Genes (Vol. 88, pp. 169–200). Elsevier. https://doi.org/10.1016/S0070-2153(09)88006-X
Davidson, G. L., Murphy, S. M., Polke, J. M., Laura, M., Salih, M. A. M., Muntoni, F., Blake, J., Brandner, S., Davies, N., Horvath, R., Price, S., Donaghy, M., Roberts, M., Foulds, N., Ramdharry, G., Soler, D., Lunn, M. P., Manji, H., Davis, M. B., … Reilly, M. M. (2012). Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. Journal of Neurology, 259(8), 1673–1685. https://doi.org/10.1007/s00415-011-6397-y
Davies, A. M. (2013). Regulation of Neuronal Survival by Neurotrophins in the Developing Peripheral Nervous System. In Patterning and Cell Type Specification in the Developing CNS and PNS (pp. 303–311). Elsevier. https://doi.org/10.1016/B978-0-12-397265-1.00095-2
Dimachkie, M. M., & Barohn, R. J. (2013). Guillain-Barré Syndrome and Variants. Neurologic Clinics, 31(2), 491–510. https://doi.org/10.1016/j.ncl.2013.01.005
Dubrey, S., Ackermann, E., & Gillmore, J. (2015). The transthyretin amyloidoses: advances in therapy. Postgraduate Medical Journal, 91(1078), 439–448. https://doi.org/10.1136/postgradmedj-2014-133224
Duncan, J. S., Winston, G. P., Koepp, M. J., & Ourselin, S. (2016). Brain imaging in the assessment for epilepsy surgery. The Lancet Neurology, 15(4), 420–433. https://doi.org/10.1016/S1474-4422(15)00383-X
Ebens, A., Brose, K., Leonardo, E. D., Jr, M. G. H., Bladt, F., Birchmeier, C., Barres, B. A., & Tessier-Lavigne, M. (1996). Hepatocyte Growth Factor/Scatter Factor Is an Axonal Chemoattractant and a Neurotrophic Factor for Spinal Motor Neurons. Neuron, 17(6), 1157–1172. https://doi.org/10.1016/S0896-6273(00)80247-0
Effects of axon diameter and myelination (video) | Khan Academy. (n.d.). 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
Evers, M. M., Toonen, L. J. A., & van Roon-Mom, W. M. C. (2015). Antisense oligonucleotides in therapy for neurodegenerative disorders. Advanced Drug Delivery Reviews, 87, 90–103. https://doi.org/10.1016/j.addr.2015.03.008
Ferlini, A., Scotton, C., & Novelli, G. (2013). Biomarkers in Rare Diseases. Public Health Genomics, 16(6), 313–321. https://doi.org/10.1159/000355938
Fernández, A., Josa, S., & Montoliu, L. (2017). A history of genome editing in mammals. Mammalian Genome, 28(7–8), 237–246. https://doi.org/10.1007/s00335-017-9699-2
Forbes, S. C., Willcocks, R. J., Triplett, W. T., Rooney, W. D., Lott, D. J., Wang, D.-J., Pollaro, J., Senesac, C. R., Daniels, M. J., Finkel, R. S., Russman, B. S., Byrne, B. J., Finanger, E. L., Tennekoon, G. I., Walter, G. A., Sweeney, H. L., & Vandenborne, K. (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). https://doi.org/10.1371/journal.pone.0106435
Free guides. (n.d.). http://www.plainenglish.co.uk/free-guides.html
Fuglsang-Frederiksen, A. (2006). The role of different EMG methods in evaluating myopathy. Clinical Neurophysiology, 117(6), 1173–1189. https://doi.org/10.1016/j.clinph.2005.12.018
Fuller, G., & Manford, M. (2010). Neurology: an illustrated colour text (3rd ed). Churchill Livingstone. 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
Gabrielle Natalie Samuel. (2017). The UK’s 100,000 Genomes Project: manifesting policymakers’ expectations. New Genetics and Society, 36(4). https://doi.org/10.1080/14636778.2017.1370671
Garner, M., Ning, Z., & Francis, J. (2012). A framework for the evaluation of patient information leaflets. Health Expectations, 15(3), 283–294. https://doi.org/10.1111/j.1369-7625.2011.00665.x
Ghaoui, R., Cooper, S. T., Lek, M., Jones, K., Corbett, A., Reddel, S. W., Needham, M., Liang, C., Waddell, L. B., Nicholson, G., O’Grady, G., Kaur, S., Ong, R., Davis, M., Sue, C. M., Laing, N. G., North, K. N., MacArthur, D. G., & Clarke, N. F. (2015). Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy. JAMA Neurology, 72(12). https://doi.org/10.1001/jamaneurol.2015.2274
Gilhus, N. E. (2016). Myasthenia Gravis. New England Journal of Medicine, 375(26), 2570–2581. https://doi.org/10.1056/NEJMra1602678
Glover, G. H., & Schneider, E. (1991). Three-point dixon technique for true water/fat decomposition withB0 inhomogeneity correction. Magnetic Resonance in Medicine, 18(2), 371–383. https://doi.org/10.1002/mrm.1910180211
Goemans, N. M., Tulinius, M., van den Akker, J. T., Burm, B. E., Ekhart, P. F., Heuvelmans, N., Holling, T., Janson, A. A., Platenburg, G. J., Sipkens, J. A., Sitsen, J. M. A., Aartsma-Rus, A., van Ommen, G.-J. B., Buyse, G., Darin, N., Verschuuren, J. J., Campion, G. V., de Kimpe, S. J., & van Deutekom, J. C. (2011). Systemic Administration of PRO051 in Duchenne’s Muscular Dystrophy. New England Journal of Medicine, 364(16), 1513–1522. https://doi.org/10.1056/NEJMoa1011367
Gordon, E., Rohrer, J. D., & Fox, N. C. (2016). Advances in neuroimaging in frontotemporal dementia. Journal of Neurochemistry, 138, 193–210. https://doi.org/10.1111/jnc.13656
Gordon, T., & Sulaiman, O. A. (2012). Nerve Regeneration in the Peripheral Nervous System. In H. Kettenmann (Ed.), Neuroglia (pp. 701–714). Oxford University Press. https://doi.org/10.1093/med/9780199794591.003.0055
Great Britain. Audit Commission for Local Authorities and the National Health Service in England and Wales. (n.d.). What Seems to Be the Matter Communication (National Health Service Report) [Paperback]. Stationery Office.
Greenfield, A. (2017). Editing mammalian genomes: ethical considerations. Mammalian Genome, 28(7–8), 388–393. https://doi.org/10.1007/s00335-017-9702-y
Griffin, B. H., Chitty, L. S., & Bitner-Glindzicz, M. (2017). The 100 000 Genomes Project: What it means for paediatrics. Archives of Disease in Childhood - Education & Practice Edition, 102(2), 105–107. https://doi.org/10.1136/archdischild-2016-311029
Guidance for Paediatric Physiotherapists - Managing Neuromuscular Disorders. (n.d.). http://apcp.csp.org.uk/publications/guidance-paediatric-physiotherapists-managing-neuromuscular-disorders
Hardie, D. G. (2006). AMPK: A Key Sensor of Fuel and Energy Status in Skeletal Muscle. Physiology, 21(1), 48–60. https://doi.org/10.1152/physiol.00044.2005
Harland, R. (2000). Neural induction. Current Opinion in Genetics & Development, 10(4), 357–362. https://doi.org/10.1016/S0959-437X(00)00096-4
Harridge, S. D. R., Bottinelli, R., Canepari, M., Pellegrino, M. A., Reggiani, C., Esbjörnsson, M., & Saltin, B. (1996). Whole-muscle and single-fibre contractile properties and myosin heavy chain isoforms in humans. Pflügers Archiv - European Journal of Physiology, 432(5), 913–920. https://doi.org/10.1007/s004240050215
Hawkins, P. N., Ando, Y., Dispenzeri, A., Gonzalez-Duarte, A., Adams, D., & Suhr, O. B. (2015). Evolving landscape in the management of transthyretin amyloidosis. Annals of Medicine, 47(8), 625–638. https://doi.org/10.3109/07853890.2015.1068949
Hawley, J. A., Hargreaves, M., Joyner, M. J., & Zierath, J. R. (2014). Integrative Biology of Exercise. Cell, 159(4), 738–749. https://doi.org/10.1016/j.cell.2014.10.029
Hilton-Jones, D., & Turner, M. R. (Eds). (2014). Oxford textbook of neuromuscular disorders: Vol. Oxford textbooks in clinical neurology. Oxford University Press. http://dx.doi.org/10.1093/med/9780199698073.001.0001
Hoch, W., McConville, J., Helms, S., Newsom-Davis, J., Melms, A., & Vincent, A. (2001). Auto-antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies. Nature Medicine, 7(3), 365–368. https://doi.org/10.1038/85520
Hoffmann, G. F., Zschocke, J., & Nyhan, W. L. (2009). Inherited metabolic diseases: a clinical approach. Springer. http://dx.doi.org/10.1007/978-3-540-74723-9
Hoier, B., & Hellsten, Y. (2014). Exercise-Induced Capillary Growth in Human Skeletal Muscle and the Dynamics of VEGF. Microcirculation, 21(4), 301–314. https://doi.org/10.1111/micc.12117
Hollak, C. E. M., & Lachmann, R. (Eds). (2016a). Inherited metabolic disease in adults: a clinical guide. Oxford University Press. http://dx.doi.org/10.1093/med/9780199972135.001.0001
Hollak, C. E. M., & Lachmann, R. (Eds). (2016b). Inherited metabolic disease in adults: a clinical guide. Oxford University Press. http://dx.doi.org/10.1093/med/9780199972135.001.0001
Hollingsworth, K. G., de Sousa, P. L., Straub, V., & Carlier, P. G. (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, S54–S67. https://doi.org/10.1016/j.nmd.2012.06.005
How to Write a Lay Summary | DCC How-to Guides. (n.d.). http://www.dcc.ac.uk/resources/how-guides/
How to Write a Lay Summary | Digital Curation Centre. (n.d.). http://www.dcc.ac.uk/resources/how-guides/write-lay-summary
Hull, J., Aniapravan, R., Chan, E., Chatwin, M., Forton, J., Gallagher, J., Gibson, N., Gordon, J., Hughes, I., McCulloch, R., Russell, R. R., & Simonds, A. (2012). British Thoracic Society guideline for respiratory management of children with neuromuscular weakness. Thorax, 67(Suppl 1), i1–i40. https://doi.org/10.1136/thoraxjnl-2012-201964
Irene Colombo. (2015). Congenital myopathies: Natural history of a large pediatric cohort. Neurology, 84(1). https://doi.org/10.1212/WNL.0000000000001110
Irina Dudanova. (2012). Genetic Evidence for a Contribution of EphA:EphrinA Reverse Signaling to Motor Axon Guidance. Journal of Neuroscience, 32(15), 5209–5215. http://www.jneurosci.org/content/32/15/5209
Jain, K. K. (Ed.). (2015). Applied neurogenomics: Vol. Neuromethods. Humana Press. http://dx.doi.org/10.1007/978-1-4939-2247-5
Jean-Yves Hogrel. (2016). Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy. Neurology, 86(11). https://doi.org/10.1212/WNL.0000000000002464
Jeppesen, T. D., Schwartz, M., Olsen, D. B., Wibrand, F., Krag, T., Duno, M., Hauerslev, S., & Vissing, J. (2006). Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy. Brain, 129(12), 3402–3412. https://doi.org/10.1093/brain/awl149
Jessell, T. M. (2000). Neuronal specification in the spinal cord: inductive signals and transcriptional codes. Nature Reviews Genetics, 1(1), 20–29. https://doi.org/10.1038/35049541
Jessen, K. R., & Mirsky, R. (2005). The origin and development of glial cells in peripheral nerves. Nature Reviews Neuroscience, 6(9), 671–682. https://doi.org/10.1038/nrn1746
Jessen, K. R., & Mirsky, R. (2016). The repair Schwann cell and its function in regenerating nerves. The Journal of Physiology, 594(13), 3521–3531. https://doi.org/10.1113/JP270874
Jessen, K. R., Mirsky, R., & Lloyd, A. C. (2015). Schwann Cells: Development and Role in Nerve Repair. Cold Spring Harbor Perspectives in Biology, 7(7). https://doi.org/10.1101/cshperspect.a020487
Jones, D. A., Haan, A. de, & Round, J. M. (2004). Skeletal muscle from molecules to movement: a textbook of muscle physiology for sport, exercise, physiotherapy and medicine. Churchill Livingstone.
Kang, J.-H., Korecka, M., Figurski, M. J., Toledo, J. B., Blennow, K., Zetterberg, H., Waligorska, T., Brylska, M., Fields, L., Shah, N., Soares, H., Dean, R. A., Vanderstichele, H., Petersen, R. C., Aisen, P. S., Saykin, A. J., Weiner, M. W., Trojanowski, J. Q., & Shaw, L. M. (2015). The Alzheimer’s Disease Neuroimaging Initiative 2 Biomarker Core: A review of progress and plans. Alzheimer’s & Dementia, 11(7), 772–791. https://doi.org/10.1016/j.jalz.2015.05.003
Kanning, K. C., Kaplan, A., & Henderson, C. E. (2010). Motor Neuron Diversity in Development and Disease. Annual Review of Neuroscience, 33(1), 409–440. https://doi.org/10.1146/annurev.neuro.051508.135722
Kao, T.-J., Law, C., & Kania, A. (2012). Eph and ephrin signaling: Lessons learned from spinal motor neurons. Seminars in Cell & Developmental Biology, 23(1), 83–91. https://doi.org/10.1016/j.semcdb.2011.10.016
Karin E. Lundin. (2015). Oligonucleotide Therapies: The Past and the Present. Human Gene Therapy, 26(8). https://doi.org/10.1089/hum.2015.070
Keith Baar. (2014). Using Molecular Biology to Maximize Concurrent Training. Sports Medicine (Auckland, N.z.), 44(Suppl 2). https://doi.org/10.1007/s40279-014-0252-0
Kernell, D. (2006). The Motoneurone and its Muscle Fibres. Oxford University Press. https://doi.org/10.1093/acprof:oso/9780198526551.001.0001
Khorkova, O., & Wahlestedt, C. (2017). Oligonucleotide therapies for disorders of the nervous system. Nature Biotechnology, 35(3), 249–263. https://doi.org/10.1038/nbt.3784
Kimberly Amburgey. (2017). A natural history study of X-linked myotubular myopathy. Neurology, 89(13). https://doi.org/10.1212/WNL.0000000000004415
Kinali, M., Arechavala-Gomeza, V., Feng, L., Cirak, S., Hunt, D., Adkin, C., Guglieri, M., Ashton, E., Abbs, S., Nihoyannopoulos, P., Garralda, M. E., Rutherford, M., Mcculley, C., Popplewell, L., Graham, I. R., Dickson, G., Wood, M. J., Wells, D. J., Wilton, S. D., … Muntoni, F. (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), 918–928. https://doi.org/10.1016/S1474-4422(09)70211-X
Koneczny, I., Cossins, J., & Vincent, A. (2014). The role of muscle-specific tyrosine kinase (MuSK) and mystery of MuSK myasthenia gravis. Journal of Anatomy, 224(1), 29–35. https://doi.org/10.1111/joa.12034
Koneczny, I., Cossins, J., Waters, P., Beeson, D., & Vincent, A. (2013). 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, 8(11). https://doi.org/10.1371/journal.pone.0080695
Ladle, D. R., Pecho-Vrieseling, E., & Arber, S. (2007). Assembly of Motor Circuits in the Spinal Cord: Driven to Function by Genetic and Experience-Dependent Mechanisms. Neuron, 56(2), 270–283. https://doi.org/10.1016/j.neuron.2007.09.026
Leslie Jacobson. (1999). Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice. Journal of Clinical Investigation, 103(7). https://doi.org/10.1172/JCI5943
Li, L., Xiong, W.-C., & Mei, L. (2018). Neuromuscular Junction Formation, Aging, and Disorders. Annual Review of Physiology, 80(1). https://doi.org/10.1146/annurev-physiol-022516-034255
Lin, G., Mao, D., & Bellen, H. J. (2017). 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, pp. 111–171). Elsevier. https://doi.org/10.1016/bs.ctdb.2016.07.004
Lu, C.-H., Macdonald-Wallis, C., Gray, E., Pearce, N., Petzold, A., Norgren, N., Giovannoni, G., Fratta, P., Sidle, K., Fish, M., Orrell, R., Howard, R., Talbot, K., Greensmith, L., Kuhle, J., Turner, M. R., & Malaspina, A. (2015). Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis. Neurology, 84(22), 2247–2257. https://doi.org/10.1212/WNL.0000000000001642
Machado, P., Brady, S., & Hanna, M. G. (2013). Update in inclusion body myositis. Current Opinion in Rheumatology, 25(6), 763–771. https://doi.org/10.1097/01.bor.0000434671.77891.9a
Machado, P. M., Ahmed, M., Brady, S., Gang, Q., Healy, E., Morrow, J. M., Wallace, A. C., Dewar, L., Ramdharry, G., Parton, M., Holton, J. L., Houlden, H., Greensmith, L., & Hanna, M. G. (2014). Ongoing Developments in Sporadic Inclusion Body Myositis. Current Rheumatology Reports, 16(12). https://doi.org/10.1007/s11926-014-0477-9
Machado, P. M., Dimachkie, M. M., & Barohn, R. J. (2014). Sporadic inclusion body myositis. Current Opinion in Neurology, 27(5), 591–598. https://doi.org/10.1097/WCO.0000000000000129
Marie-Christine Birling. (2017). Modeling human disease in rodents by CRISPR/Cas9 genome editing. Mammalian Genome, 28(7). https://doi.org/10.1007/s00335-017-9703-x
Matthew N Meriggioli. (2009). Autoimmune myasthenia gravis: emerging clinical and biological heterogeneity. Lancet Neurology, 8(5). https://doi.org/10.1016/S1474-4422(09)70063-8
Matthews, E., Fialho, D., Tan, S. V., Venance, S. L., Cannon, S. C., Sternberg, D., Fontaine, B., Amato, A. A., Barohn, R. J., Griggs, R. C., & Hanna, M. G. (2010). The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain, 133(1), 9–22. https://doi.org/10.1093/brain/awp294
Mendell, J. R., Goemans, N., Lowes, L. P., Alfano, L. N., Berry, K., Shao, J., Kaye, E. M., & Mercuri, E. (2016). Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy. Annals of Neurology, 79(2), 257–271. https://doi.org/10.1002/ana.24555
Mendell, J. R., Rodino-Klapac, L. R., Sahenk, Z., Roush, K., Bird, L., Lowes, L. P., Alfano, L., Gomez, A. M., Lewis, S., Kota, J., Malik, V., Shontz, K., Walker, C. M., Flanigan, K. M., Corridore, M., Kean, J. R., Allen, H. D., Shilling, C., Melia, K. R., … Kaye, E. M. (2013). Eteplirsen for the treatment of Duchenne muscular dystrophy. Annals of Neurology, 74(5), 637–647. https://doi.org/10.1002/ana.23982
Menezes, M. P., & North, K. N. (2012). Inherited neuromuscular disorders: Pathway to diagnosis. Journal of Paediatrics and Child Health, 48(6), 458–465. https://doi.org/10.1111/j.1440-1754.2011.02210.x
Metzker, M. L. (2010). Sequencing technologies — the next generation. Nature Reviews Genetics, 11(1), 31–46. https://doi.org/10.1038/nrg2626
MGI-Mouse Genome Informatics -The international database resource for the laboratory mouse. (n.d.). http://www.informatics.jax.org/
Mhoriam Ahmed. (2016). Targeting Protein Homeostasis in Sporadic Inclusion Body Myositis. Science Translational Medicine, 8(331). https://doi.org/10.1126/scitranslmed.aad4583
Michael Benatar. (2016). ALS Biomarkers for Therapy Development: State of the Field & Future Directions. Muscle & Nerve, 53(2). https://doi.org/10.1002/mus.24979
Michael P. Wiggs. (2015). Can endurance exercise preconditioning prevention disuse muscle atrophy? Frontiers in Physiology, 6. https://doi.org/10.3389/fphys.2015.00063
Michell, A. (2013). Understanding EMG. Oxford University Press. https://doi.org/10.1093/med/9780199595501.001.0001
Miguel A Martín. (2014). Glycogen Storage Disease Type V. https://www.ncbi.nlm.nih.gov/books/NBK1344/
Milestones timeline : Nature Milestones in DNA. (n.d.). https://www.nature.com/milestones/miledna/timeline.html
Monahan, Z., Shewmaker, F., & Pandey, U. B. (2016). Stress granules at the intersection of autophagy and ALS. Brain Research, 1649, 189–200. https://doi.org/10.1016/j.brainres.2016.05.022
Monk, K. R., Feltri, M. L., & Taveggia, C. (2015). New insights on schwann cell development. Glia, 63(8), 1376–1393. https://doi.org/10.1002/glia.22852
Morgan, S., & Orrell, R. W. (2016). Pathogenesis of amyotrophic lateral sclerosis. British Medical Bulletin, 119(1), 87–98. https://doi.org/10.1093/bmb/ldw026
Morrow, J. M., Sinclair, C. D. J., Fischmann, A., Machado, P. M., Reilly, M. M., Yousry, T. A., Thornton, J. S., & Hanna, M. G. (2016). MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study. The Lancet Neurology, 15(1), 65–77. https://doi.org/10.1016/S1474-4422(15)00242-2
Motor neurone disease: assessment and management | Guidance and guidelines | NICE. (n.d.). https://www.nice.org.uk/guidance/ng42
Muntoni, F., Torelli, S., & Ferlini, A. (2003). Dystrophin and mutations: one gene, several proteins, multiple phenotypes. The Lancet Neurology, 2(12), 731–740. https://doi.org/10.1016/S1474-4422(03)00585-4
Muscular Dystrophy UK. (n.d.). http://www.musculardystrophyuk.org/
Nancy D Leslie. (2014). Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. https://www.ncbi.nlm.nih.gov/books/NBK6816/
Nancy Leslie. (2017). Pompe Disease. https://www.ncbi.nlm.nih.gov/books/NBK1261/
Needham, M., & 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), 1764–1773. https://doi.org/10.1016/j.clinph.2015.12.011
Nerve Signaling. (n.d.). https://www.nobelprize.org/educational/medicine/nerve_signaling/index.html
Neuromuscular | Department of Neurology. (n.d.). https://neuro.wustl.edu/education/fellowships/neuromuscular/
Neuromuscular Disease Centre. (n.d.). http://neuromuscular.wustl.edu/
Nishimune, H. (2012). Active zones of mammalian neuromuscular junctions: formation, density, and aging. Annals of the New York Academy of Sciences, 1274(1), 24–32. https://doi.org/10.1111/j.1749-6632.2012.06836.x
Nishimune, H., Valdez, G., Jarad, G., Moulson, C. L., Müller, U., Miner, J. H., & Sanes, J. R. (2008). Laminins promote postsynaptic maturation by an autocrine mechanism at the neuromuscular junction. The Journal of Cell Biology, 182(6), 1201–1215. https://doi.org/10.1083/jcb.200805095
North, K. N., Wang, C. H., Clarke, N., Jungbluth, H., Vainzof, M., Dowling, J. J., Amburgey, K., Quijano-Roy, S., Beggs, A. H., Sewry, C., Laing, N. G., & Bönnemann, C. G. (2014a). Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders, 24(2), 97–116. https://doi.org/10.1016/j.nmd.2013.11.003
North, K. N., Wang, C. H., Clarke, N., Jungbluth, H., Vainzof, M., Dowling, J. J., Amburgey, K., Quijano-Roy, S., Beggs, A. H., Sewry, C., Laing, N. G., & Bönnemann, C. G. (2014b). Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders, 24(2), 97–116. https://doi.org/10.1016/j.nmd.2013.11.003
Nowell, M., Sparks, R., Zombori, G., Miserocchi, A., Rodionov, R., Diehl, B., Wehner, T., White, M., Ourselin, S., McEvoy, A., & Duncan, J. (2017). Resection planning in extratemporal epilepsy surgery using 3D multimodality imaging and intraoperative MRI. British Journal of Neurosurgery, 31(4), 468–470. https://doi.org/10.1080/02688697.2016.1265086
O’Brien, T. D., Reeves, N. D., Baltzopoulos, V., Jones, D. A., & Maganaris, C. N. (2010). In vivo measurements of muscle specific tension in adults and children. Experimental Physiology, 95(1), 202–210. https://doi.org/10.1113/expphysiol.2009.048967
O’Connor, E., Töpf, A., Zahedi, R., Spendiff, S., Cox, D., Roos, A., & Lochmüller, H. (2018). Clinical and research strategies for limb-girdle congenital myasthenic syndromes. Annals of the New York Academy of Sciences. https://doi.org/10.1111/nyas.13520
O’Grady, G. L., Lek, M., Lamande, S. R., Waddell, L., Oates, E. C., Punetha, J., Ghaoui, R., Sandaradura, S. A., Best, H., Kaur, S., Davis, M., Laing, N. G., Muntoni, F., Hoffman, E., MacArthur, D. G., Clarke, N. F., Cooper, S., & North, K. (2016). Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. Annals of Neurology, 80(1), 101–111. https://doi.org/10.1002/ana.24687
Olivé, M., Kley, R. A., & Goldfarb, L. G. (2013). Myofibrillar myopathies. Current Opinion in Neurology, 26(5), 527–535. https://doi.org/10.1097/WCO.0b013e328364d6b1
Olpin, S. E., Murphy, E., Kirk, R. J., Taylor, R. W., & Quinlivan, R. (2015). The investigation and management of metabolic myopathies. Journal of Clinical Pathology, 68(6), 410–417. https://doi.org/10.1136/jclinpath-2014-202808
OMIM - Online Mendelian Inheritance in Man. (n.d.). https://www.omim.org/
Ørngreen, M. C., & Vissing, J. (2017). Treatment Opportunities in Patients With Metabolic Myopathies. Current Treatment Options in Neurology, 19(11). https://doi.org/10.1007/s11940-017-0473-2
Orrell, Richard WBarclay, Chris. (n.d.). Diagnosis and management of motor neurone disease. Practitioner, 260, 17–21. https://search.proquest.com/docview/1844334383?OpenUrlRefId=info:xri/sid:primo&accountid=14511
Otto, M., Bowser, R., Turner, M., Berry, J., Brettschneider, J., Connor, J., Costa, J., Cudkowicz, M., Glass, J., Jahn, O., Lehnert, S., Malaspina, A., Parnetti, L., Petzold, A., Shaw, P., Sherman, A., Steinacker, P., Süßmuth, S., Teunissen, C., … Ludolph, A. (2012). Roadmap and standard operating procedures for biobanking and discovery of neurochemical markers in ALS. Amyotrophic Lateral Sclerosis, 13(1), 1–10. https://doi.org/10.3109/17482968.2011.627589
Paganoni, S., & Amato, A. (2013). Electrodiagnostic Evaluation of Myopathies. Physical Medicine and Rehabilitation Clinics of North America, 24(1), 193–207. https://doi.org/10.1016/j.pmr.2012.08.017
Part two - The specifics - Access to Understanding. (n.d.). http://www.access2understanding.org/guidance/part-two-the-specifics/
Pasterkamp, R. J. (2012). Getting neural circuits into shape with semaphorins. Nature Reviews Neuroscience, 13(9), 605–618. https://doi.org/10.1038/nrn3302
Peter S. Zammit. (2004). Muscle satellite cells adopt divergent fates: a mechanism for self-renewal? The Journal of Cell Biology, 166(3). https://doi.org/10.1083/jcb.200312007
Plante-Bordeneuve, V., Ferreira, A., Lalu, T., Zaros, C., Lacroix, C., Adams, D., & Said, G. (2007). Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology, 69(7), 693–698. https://doi.org/10.1212/01.wnl.0000267338.45673.f4
Preston, D. C., & Shapiro, B. E. (2013). Electromyography and neuromuscular disorders: clinical-electrophysiologic correlations (3rd ed). Elsevier Saunders.
Purves, D. (2001). Neuroscience. National Library of Medicine. http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowTOC&rid=neurosci.TOC&depth=2
Qualification Process for Drug Development Tools. (n.d.). https://www.fda.gov/downloads/drugs/guidances/ucm230597.pdf
Quijano-Roy, S., Carlier, R. Y., & Fischer, D. (2011). Muscle Imaging in Congenital Myopathies. Seminars in Pediatric Neurology, 18(4), 221–229. https://doi.org/10.1016/j.spen.2011.10.003
R Bottinelli. (1996). Force-velocity properties of human skeletal muscle fibres: myosin heavy chain isoform and temperature dependence. The Journal of Physiology, 495(Pt 2). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1160815/
R Klein. (1994). Role of neurotrophins in mouse neuronal development. The FASEB Journal, 8(10), 738–744. http://www.fasebj.org/content/8/10/738.long
Ravenscroft, G., Davis, M. R., Lamont, P., Forrest, A., & Laing, N. G. (2017). New era in genetics of early-onset muscle disease: Breakthroughs and challenges. Seminars in Cell & Developmental Biology, 64, 160–170. https://doi.org/10.1016/j.semcdb.2016.08.002
Ravenscroft, G., Laing, N. G., & Bönnemann, C. G. (2015). Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus. Brain, 138(2), 246–268. https://doi.org/10.1093/brain/awu368
Readable | Free Readability Test Tool. (n.d.). https://www.webpagefx.com/tools/read-able/
Rees, J. H. (2004). Paraneoplastic syndromes: when to suspect, how to confirm, and how to manage. Journal of Neurology, Neurosurgery & Psychiatry, 75(suppl_2), ii43–ii50. https://doi.org/10.1136/jnnp.2004.040378
Reilly, M., & Fridman, V. (2015). Inherited Neuropathies. Seminars in Neurology, 35(04), 407–423. https://doi.org/10.1055/s-0035-1558981
Renton, A. E., Chiò, A., & Traynor, B. J. (2014). State of play in amyotrophic lateral sclerosis genetics. Nature Neuroscience, 17(1), 17–23. https://doi.org/10.1038/nn.3584
Richard J. Barohn. (2014). A PATTERN RECOGNITION APPROACH TO THE PATIENT WITH A SUSPECTED MYOPATHY. Neurologic Clinics, 32(3). https://doi.org/10.1016/j.ncl.2014.04.008
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., Voelkerding, K., & Rehm, H. L. (2015). 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, 17(5), 405–423. https://doi.org/10.1038/gim.2015.30
Ricotti, V., Ridout, D. A., Scott, E., Quinlivan, R., Robb, S. A., Manzur, A. Y., Muntoni, F., Manzur, A., Muntoni, F., Robb, S., Quinlivan, R., Ricotti, V., Main, M., Bushby, K., Straub, V., Sarkozy, A., Guglieri, M., Strehle, E., Eagle, M., … Miah, A. (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), 698–705. https://doi.org/10.1136/jnnp-2012-303902
Robert M. Brownstone. (2010). Spinal interneurons providing input to the final common path during locomotion. Progress in Brain Research, 187. https://doi.org/10.1016/B978-0-444-53613-6.00006-X
Rodríguez Cruz, P. M., Palace, J., & Beeson, D. (2014). Inherited disorders of the neuromuscular junction: an update. Journal of Neurology, 261(11), 2234–2243. https://doi.org/10.1007/s00415-014-7520-7
Rodríguez Cruz, P. M., Sewry, C., Beeson, D., Jayawant, S., Squier, W., McWilliam, R., & Palace, J. (2014). Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature. Neuromuscular Disorders, 24(12), 1103–1110. https://doi.org/10.1016/j.nmd.2014.07.005
Ross, J., Benn, A., Jonuschies, J., Boldrin, L., Muntoni, F., Hewitt, J. E., Brown, S. C., & Morgan, J. E. (2012). Defects in Glycosylation Impair Satellite Stem Cell Function and Niche Composition in the Muscles of the Dystrophic Large                              Mouse. STEM CELLS, 30(10), 2330–2341. https://doi.org/10.1002/stem.1197
Rossor, A. M., Carr, A. S., Devine, H., Chandrashekar, H., Pelayo-Negro, A. L., Pareyson, D., Shy, M. E., Scherer, S. S., & Reilly, M. M. (2017). Peripheral neuropathy in complex inherited diseases: an approach to diagnosis. Journal of Neurology, Neurosurgery & Psychiatry, 88(10), 846–863. https://doi.org/10.1136/jnnp-2016-313960
Rossor, A. M., Evans, M. R. B., & Reilly, M. M. (2015a). A practical approach to the genetic neuropathies. Practical Neurology, 15(3), 187–198. https://doi.org/10.1136/practneurol-2015-001095
Rossor, A. M., Evans, M. R. B., & Reilly, M. M. (2015b). A practical approach to the genetic neuropathies. Practical Neurology, 15(3), 187–198. https://doi.org/10.1136/practneurol-2015-001095
Rossor, A. M., Evans, M. R. B., & Reilly, M. M. (2015c). A practical approach to the genetic neuropathies. Practical Neurology, 15(3), 187–198. https://doi.org/10.1136/practneurol-2015-001095
Rossor, A. M., Evans, M. R. B., & Reilly, M. M. (2015d). A practical approach to the genetic neuropathies. Practical Neurology, 15(3), 187–198. https://doi.org/10.1136/practneurol-2015-001095
Rossor, A. M., Evans, M. R. B., & Reilly, M. M. (2015e). A practical approach to the genetic neuropathies. Practical Neurology, 15(3), 187–198. https://doi.org/10.1136/practneurol-2015-001095
Rossor, A. M., Kalmar, B., Greensmith, L., & Reilly, M. M. (2012). The distal hereditary motor neuropathies. Journal of Neurology, Neurosurgery & Psychiatry, 83(1), 6–14. https://doi.org/10.1136/jnnp-2011-300952
Rossor, A. M., Reilly, M. M., & Sleigh, J. N. (2018). Antisense oligonucleotides and other genetic therapies made simple. Practical Neurology. https://doi.org/10.1136/practneurol-2017-001764
Rossor, A. M., Tomaselli, P. J., & Reilly, M. M. (2016a). Recent advances in the genetic neuropathies. Current Opinion in Neurology. https://doi.org/10.1097/WCO.0000000000000373
Rossor, A. M., Tomaselli, P. J., & Reilly, M. M. (2016b). Recent advances in the genetic neuropathies. Current Opinion in Neurology. https://doi.org/10.1097/WCO.0000000000000373
Rudolf, R., Khan, M. M., Labeit, S., & Deschenes, M. R. (2014). Degeneration of Neuromuscular Junction in Age and Dystrophy. Frontiers in Aging Neuroscience, 6. https://doi.org/10.3389/fnagi.2014.00099
Ruegsegger, C., & Saxena, S. (2016). Proteostasis impairment in ALS. Brain Research, 1648, 571–579. https://doi.org/10.1016/j.brainres.2016.03.032
Safety and efficacy of diaphragm pacing in patients with respiratory insufficiency due to amyotrophic lateral sclerosis (DiPALS): a multicentre, open-label, randomised controlled trial. (2015). The Lancet Neurology, 14(9), 883–892. https://doi.org/10.1016/S1474-4422(15)00152-0
Salzer, J. L. (2015). Schwann Cell Myelination. Cold Spring Harbor Perspectives in Biology, 7(8). https://doi.org/10.1101/cshperspect.a020529
Samuel, G. N., & Farsides, B. (2017). 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. https://doi.org/10.1007/s11019-017-9810-1
Saudubray, J. M., Baumgartner, M. R., & Walter, J. (Eds). (2016). Inborn metabolic diseases: diagnosis and treatment (6th edition). Springer.
Schlosser, G. (2006). Induction and specification of cranial placodes. Developmental Biology, 294(2), 303–351. https://doi.org/10.1016/j.ydbio.2006.03.009
Schofield, D., Alam, K., Douglas, L., Shrestha, R., MacArthur, D. G., Davis, M., Laing, N. G., Clarke, N. F., Burns, J., Cooper, S. T., North, K. N., Sandaradura, S. A., & O’Grady, G. L. (2017). Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases. Npj Genomic Medicine, 2(1). https://doi.org/10.1038/s41525-017-0006-7
Schröder, R., & Schoser, B. (2009). Myofibrillar Myopathies: A Clinical and Myopathological Guide. Brain Pathology, 19(3), 483–492. https://doi.org/10.1111/j.1750-3639.2009.00289.x
Shaibani, A. (2014). A Video Atlas of Neuromuscular Disorders. Oxford University Press. https://doi.org/10.1093/med/9780199898152.001.0001
Sharp, L., & Trivedi, J. R. (2014). Treatment and Management of Neuromuscular Channelopathies. Current Treatment Options in Neurology, 16(10). https://doi.org/10.1007/s11940-014-0313-6
Simon, N. G., Turner, M. R., Vucic, S., Al-Chalabi, A., Shefner, J., Lomen-Hoerth, C., & Kiernan, M. C. (2014). Quantifying disease progression in amyotrophic lateral sclerosis. Annals of Neurology, 76(5), 643–657. https://doi.org/10.1002/ana.24273
Singhal, N., & Martin, P. T. (2011). Role of extracellular matrix proteins and their receptors in the development of the vertebrate neuromuscular junction. Developmental Neurobiology, 71(11), 982–1005. https://doi.org/10.1002/dneu.20953
Spillane, J., Beeson, D. J., & Kullmann, D. M. (2010). Myasthenia and related disorders of the neuromuscular junction. Journal of Neurology, Neurosurgery & Psychiatry, 81(8), 850–857. https://doi.org/10.1136/jnnp.2008.169367
Strength training and aerobic exercise training for muscle disease - van der Kooi - 2005 - The Cochrane Library - Wiley Online Library. (n.d.). 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+
Sun, Y., Ruivenkamp, C. A. L., Hoffer, M. J. V., Vrijenhoek, T., Kriek, M., van Asperen, C. J., den Dunnen, J. T., & Santen, G. W. E. (2015). Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome? Human Mutation, 36(6), 648–655. https://doi.org/10.1002/humu.22783
Sveen, M.-L., Andersen, S. P., Ingelsrud, L. H., Blichter, S., Olsen, N. E., Jønck, S., Krag, T. O., & Vissing, J. (2013). Resistance training in patients with limb-girdle and becker muscular dystrophies. Muscle & Nerve, 47(2), 163–169. https://doi.org/10.1002/mus.23491
T. D. Bunker. (1983). An information leaflet for surgical patients. Annals of The Royal College of Surgeons of England, 65(4). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2494353/
Tan, S. V., Matthews, E., Barber, M., Burge, J. A., Rajakulendran, S., Fialho, D., Sud, R., Haworth, A., Koltzenburg, M., & Hanna, M. G. (2011). Refined exercise testing can aid dna-based diagnosis in muscle channelopathies. Annals of Neurology, 69(2), 328–340. https://doi.org/10.1002/ana.22238
Taniguchi, M., Yuasa, S., Fujisawa, H., Naruse, I., Saga, S., Mishina, M., & Yagi, T. (1997). Disruption of Semaphorin III/D Gene Causes Severe Abnormality in Peripheral Nerve Projection. Neuron, 19(3), 519–530. https://doi.org/10.1016/S0896-6273(00)80368-2
Teboul, L., Hérault, Y., Smith, C., & Whitelaw, B. (2017). Introduction to Mammalian Genome Special Issue: Genome Editing. Mammalian Genome, 28(7–8), 235–236. https://doi.org/10.1007/s00335-017-9708-5
Thiede-Stan, N. K., & Schwab, M. E. (2015). Attractive and repulsive factors act through multi-subunit receptor complexes to regulate nerve fiber growth. Journal of Cell Science, 128(14), 2403–2414. https://doi.org/10.1242/jcs.165555
Thomas Wieser. (2017). Carnitine Palmitoyltransferase II Deficiency. https://www.ncbi.nlm.nih.gov/books/NBK1253/
Toolkit for producing patient information.pdf. (n.d.). https://www.uea.ac.uk/documents/246046/0/Toolkit+for+producing+patient+information.pdf
Top tips for writing a lay summary | The Academy of Medical Sciences. (n.d.). https://acmedsci.ac.uk/more/news/10-tips-for-writing-a-lay-summary
Ulf Andreasson. (2016). Update on ultrasensitive technologies to facilitate research on blood biomarkers for central nervous system disorders. Alzheimer’s & Dementia : Diagnosis, Assessment & Disease Monitoring, 3. https://doi.org/10.1016/j.dadm.2016.05.005
Vaithinathan, A. G., & Asokan, V. (2017). Public health and precision medicine share a goal. Journal of Evidence-Based Medicine, 10(2), 76–80. https://doi.org/10.1111/jebm.12239
Vakharia, V. N., Sparks, R., O’Keeffe, A. G., Rodionov, R., Miserocchi, A., McEvoy, A., Ourselin, S., & Duncan, J. (2017). Accuracy of intracranial electrode placement for stereoelectroencephalography: A systematic review and meta-analysis. Epilepsia, 58(6), 921–932. https://doi.org/10.1111/epi.13713
Van Battum, E. Y., Brignani, S., & Pasterkamp, R. J. (2015). Axon guidance proteins in neurological disorders. The Lancet Neurology, 14(5), 532–546. https://doi.org/10.1016/S1474-4422(14)70257-1
Venance, S. L., Cannon, S. C., Fialho, D., Fontaine, B., Hanna, M. G., Ptacek, L. J., Tristani-Firouzi, M., Tawil, R., & Griggs, R. C. (2006). The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain, 129(1), 8–17. https://doi.org/10.1093/brain/awh639
Victorian  Department of Health  / University  of  Melbourne. (n.d.). https://www2.health.vic.gov.au/
Viegas, S., Jacobson, L., Waters, P., Cossins, J., Jacob, S., Leite, M. I., Webster, R., & Vincent, A. (2012). Passive and active immunization models of MuSK-Ab positive myasthenia: Electrophysiological evidence for pre and postsynaptic defects. Experimental Neurology, 234(2), 506–512. https://doi.org/10.1016/j.expneurol.2012.01.025
Vincent, A. (2002). Timeline: Unravelling the pathogenesis of myasthenia gravis. Nature Reviews Immunology, 2(10), 797–804. https://doi.org/10.1038/nri916
Wang, L., Klein, R., Zheng, B., & Marquardt, T. (2011). Anatomical Coupling of Sensory and Motor Nerve Trajectory via Axon Tracking. Neuron, 71(2), 263–277. https://doi.org/10.1016/j.neuron.2011.06.021
Ward, S. (2005). Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia. Thorax, 60(12), 1019–1024. https://doi.org/10.1136/thx.2004.037424
Wattjes, M. P., & Fischer, D. (2013). Neuromuscular imaging. Springer. https://www.dawsonera.com/abstract/9781461465522
Wattjes, M. P., Kley, R. A., & Fischer, D. (2010). Neuromuscular imaging in inherited muscle diseases. European Radiology, 20(10), 2447–2460. https://doi.org/10.1007/s00330-010-1799-2
Welch, M. B., & Brummett, C. M. (2011). Peripheral Nervous SystemAnatomy and Function. In G. A. Mashour & R. Lydic (Eds), Neuroscientific Foundations of Anesthesiology (pp. 133–140). Oxford University Press. https://doi.org/10.1093/med/9780195398243.003.0067
Willcocks, R. J., Rooney, W. D., Triplett, W. T., Forbes, S. C., Lott, D. J., Senesac, C. R., Daniels, M. J., Wang, D.-J., Harrington, A. T., Tennekoon, G. I., Russman, B. S., Finanger, E. L., Byrne, B. J., Finkel, R. S., Walter, G. A., Sweeney, H. L., & Vandenborne, K. (2016). Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort. Annals of Neurology, 79(4), 535–547. https://doi.org/10.1002/ana.24599
Willison, H. J., Jacobs, B. C., & van Doorn, P. A. (2016). Guillain-Barré syndrome. The Lancet, 388(10045), 717–727. https://doi.org/10.1016/S0140-6736(16)00339-1
Wood, N. (2012). Neurogenetics. Cambridge University Press. https://doi.org/10.1017/CBO9781139087711
Woollacott, I. O. C., & Rohrer, J. D. (2016). The clinical spectrum of sporadic and familial forms of frontotemporal dementia. Journal of Neurochemistry, 138, 6–31. https://doi.org/10.1111/jnc.13654
Yang, Y., Muzny, D. M., Reid, J. G., Bainbridge, M. N., Willis, A., Ward, P. A., Braxton, A., Beuten, J., Xia, F., Niu, Z., Hardison, M., Person, R., Bekheirnia, M. R., Leduc, M. S., Kirby, A., Pham, P., Scull, J., Wang, M., Ding, Y., … Eng, C. M. (2013). Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders. New England Journal of Medicine, 369(16), 1502–1511. https://doi.org/10.1056/NEJMoa1306555
Yates, M., Watts, R. A., Bajema, I. M., Cid, M. C., Crestani, B., Hauser, T., Hellmich, B., Holle, J. U., Laudien, M., Little, M. A., Luqmani, R. A., Mahr, A., Merkel, P. A., Mills, J., Mooney, J., Segelmark, M., Tesar, V., Westman, K., Vaglio, A., … Mukhtyar, C. (2016). EULAR/ERA-EDTA recommendations for the management of ANCA-associated vasculitis. Annals of the Rheumatic Diseases, 75(9), 1583–1594. https://doi.org/10.1136/annrheumdis-2016-209133