[1]
A. Caton The branchial arches and HGF are growth-promoting and chemoattractant for cranial motor axons. Development. 127, 8, 1751–1766.
[2]
A Cruz-Martínez 2004. Single fiber electromyography (SFEMG) in mitochondrial diseases (MD). Electromyography and clinical neurophysiology. (2004).
[3]
A. M. Gordon 2000. Regulation of Contraction in Striated Muscle. Physiological Reviews. 80, 2 (Jan. 2000), 853–924.
[4]
Aartsma-Rus, A. 2012. Overview on AON Design. Exon Skipping. A. Aartsma-Rus, ed. Humana Press. 117–129.
[5]
Addgene: CRISPR Guide: https://www.addgene.org/crispr/guide/.
[6]
Ahmed, M. et al. 2016. Targeting protein homeostasis in sporadic inclusion body myositis. Science Translational Medicine. 8, 331 (Mar. 2016), 331ra41-331ra41. https://doi.org/10.1126/scitranslmed.aad4583.
[7]
Al-Chalabi, A. et al. 2016. Gene discovery in amyotrophic lateral sclerosis: implications for clinical management. Nature Reviews Neurology. 13, 2 (Dec. 2016), 96–104. https://doi.org/10.1038/nrneurol.2016.182.
[8]
AM Rossor 2016. Recent advances in the genetic neuropathies. Current opinion in neurology. 29, 5 (2016). https://doi.org/10.1097/WCO.0000000000000373.
[9]
Amato, A.A. and Greenberg, S.A. 2013. Inflammatory Myopathies. CONTINUUM: Lifelong Learning in Neurology. 19, (Dec. 2013), 1615–1633. https://doi.org/10.1212/01.CON.0000440662.26427.bd.
[10]
Amato, A.A. and Russell, J.A. 2008. Neuromuscular disorders. McGraw-Hill.
[11]
Andrew G. Engel 2015. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. The Lancet. Neurology. 14, 4 (2015). https://doi.org/10.1016/S1474-4422(14)70201-7.
[12]
Antoine, J.-C. and Camdessanché, J.-P. 2013. Paraneoplastic disorders of the peripheral nervous system. La Presse Médicale. 42, 6 (June 2013), e235–e244. https://doi.org/10.1016/j.lpm.2013.01.059.
[13]
APCP: http://apcp.csp.org.uk/.
[14]
Arthur-Farraj, P.J. et al. 2012. c-Jun Reprograms Schwann Cells of Injured Nerves to Generate a Repair Cell Essential for Regeneration. Neuron. 75, 4 (Aug. 2012), 633–647. https://doi.org/10.1016/j.neuron.2012.06.021.
[15]
Auer-Grumbach, M. 2013. Hereditary sensory and autonomic neuropathies. Peripheral Nerve Disorders. Elsevier. 893–906.
[16]
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.
[17]
Belaya, K. et al. 2015. Mutations in cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain. 138, 9 (Sept. 2015), 2493–2504. https://doi.org/10.1093/brain/awv185.
[18]
Benson, M.K.D. 2011. Children’s neuromuscular disorders. Springer.
[19]
Berthelsen, M.P. et al. 2014. Anti-gravity training improves walking capacity and postural balance in patients with muscular dystrophy. Neuromuscular Disorders. 24, 6 (June 2014), 492–498. https://doi.org/10.1016/j.nmd.2014.03.001.
[20]
Beryl B. Cummings 2017. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science translational medicine. 9, 386 (2017). https://doi.org/10.1126/scitranslmed.aal5209.
[21]
Blottner, D. and Salanova, M. 2015. The neuromuscular system: from earth to space life science : neuromuscular cell signalling in disuse and exercise. Springer.
[22]
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 (1998), 198–199.
[23]
Boldrin, L. et al. 2015. Satellite cells from dystrophic muscle retain regenerative capacity. Stem Cell Research. 14, 1 (Jan. 2015), 20–29. https://doi.org/10.1016/j.scr.2014.10.007.
[24]
Boldrin, L. and Morgan, J.E. 2007. Activating muscle stem cells: therapeutic potential in muscle diseases. Current Opinion in Neurology. 20, 5 (Oct. 2007), 577–582. https://doi.org/10.1097/WCO.0b013e3282ef5919.
[25]
Bonanomi, D. and Pfaff, S.L. 2010. Motor Axon Pathfinding. Cold Spring Harbor Perspectives in Biology. 2, 3 (Mar. 2010), a001735–a001735. https://doi.org/10.1101/cshperspect.a001735.
[26]
Bönnemann, C.G. et al. 2014. Diagnostic approach to the congenital muscular dystrophies. Neuromuscular Disorders. 24, 4 (Apr. 2014), 289–311. https://doi.org/10.1016/j.nmd.2013.12.011.
[27]
Briggs, D. and Morgan, J.E. 2013. Recent progress in satellite cell/myoblast engraftment - relevance for therapy. FEBS Journal. 280, 17 (Sept. 2013), 4281–4293. https://doi.org/10.1111/febs.12273.
[28]
Brosius Lutz, A. and Barres, B.A. 2014. Contrasting the Glial Response to Axon Injury in the Central and Peripheral Nervous Systems. Developmental Cell. 28, 1 (Jan. 2014), 7–17. https://doi.org/10.1016/j.devcel.2013.12.002.
[29]
Bushby, K. et al. 2014. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle & Nerve. 50, 4 (Oct. 2014), 477–487. https://doi.org/10.1002/mus.24332.
[30]
Bushby, K. et al. 2010. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. The Lancet Neurology. 9, 1 (Jan. 2010), 77–93. https://doi.org/10.1016/S1474-4422(09)70271-6.
[31]
Bushby, K. et al. 2010. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. The Lancet Neurology. 9, 2 (Feb. 2010), 177–189. https://doi.org/10.1016/S1474-4422(09)70272-8.
[32]
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 (1998).
[33]
Byung-Yong Park 2010. Induction and Segregation of the Vertebrate Cranial Placodes. (2010).
[34]
C F George 1983. Prescription information leaflets: a pilot study in general practice. British Medical Journal (Clinical research ed.). 287, 6400 (1983).
[35]
Caballero-Hernandez, D. et al. 2016. The ‘Omics’ of Amyotrophic Lateral Sclerosis. Trends in Molecular Medicine. 22, 1 (Jan. 2016), 53–67. https://doi.org/10.1016/j.molmed.2015.11.001.
[36]
Cannon, S.C. 2011. Channelopathies of Skeletal Muscle Excitability. Comprehensive Physiology. R. Terjung, ed. John Wiley & Sons, Inc. 761–790.
[37]
Carr, A.S. et al. 2016. A study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK. Journal of Neurology, Neurosurgery & Psychiatry. 87, 6 (June 2016), 620–627. https://doi.org/10.1136/jnnp-2015-310907.
[38]
Carrì, M.T. et al. 2017. Pathways to mitochondrial dysfunction in ALS pathogenesis. Biochemical and Biophysical Research Communications. 483, 4 (Feb. 2017), 1187–1193. https://doi.org/10.1016/j.bbrc.2016.07.055.
[39]
Carstens, P.-O. and Schmidt, J. 2014. Diagnosis, pathogenesis and treatment of myositis: recent advances. Clinical & Experimental Immunology. 175, 3 (Mar. 2014), 349–358. https://doi.org/10.1111/cei.12194.
[40]
Chhabra, A. 2014. Peripheral MR Neurography. Neuroimaging Clinics of North America. 24, 1 (Feb. 2014), 79–89. https://doi.org/10.1016/j.nic.2013.03.033.
[41]
Cirak, S. et al. 2011. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. The Lancet. 378, 9791 (Aug. 2011), 595–605. https://doi.org/10.1016/S0140-6736(11)60756-3.
[42]
Clarke, C. et al. eds 2016. Neurology. John Wiley &;#38; Sons, Ltd.
[43]
Clarke, C. et al. 2009. Neurology: a Queen Square textbook. Wiley-Blackwell.
[44]
Collins, M.P. et al. 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 (Sept. 2010), 176–184. https://doi.org/10.1111/j.1529-8027.2010.00281.x.
[45]
Collins, M.P. and Hadden, R.D. 2017. The nonsystemic vasculitic neuropathies. Nature Reviews Neurology. 13, 5 (Apr. 2017), 302–316. https://doi.org/10.1038/nrneurol.2017.42.
[46]
Conover, J.C. et al. 1995. Neuronal deficits, not involving motor neurons, in mice lacking BDNF and/or NT4. Nature. 375, 6528 (May 1995), 235–238. https://doi.org/10.1038/375235a0.
[47]
Conwit, R.A. et al. 2011. Adding more muscle and nerve to clinical trials. Muscle & Nerve. 44, 5 (Nov. 2011), 695–702. https://doi.org/10.1002/mus.22130.
[48]
Couratier, P. et al. 2016. Epidemiology of amyotrophic lateral sclerosis: A review of literature. Revue Neurologique. 172, 1 (Jan. 2016), 37–45. https://doi.org/10.1016/j.neurol.2015.11.002.
[49]
Craig, D.M. et al. 2015. Utilizing small nutrient compounds as enhancers of exercise-induced mitochondrial biogenesis. Frontiers in Physiology. 6, (Oct. 2015). https://doi.org/10.3389/fphys.2015.00296.
[50]
Crisp, S.J. et al. 2016. Autoimmune synaptopathies. Nature Reviews Neuroscience. 17, 2 (Feb. 2016), 103–117. https://doi.org/10.1038/nrn.2015.27.
[51]
Crisp, S.J. et al. 2016. Autoimmune synaptopathies. Nature Reviews Neuroscience. 17, 2 (Feb. 2016), 103–117. https://doi.org/10.1038/nrn.2015.27.
[52]
Cruz, P.M.R. et al. 2014. Congenital myasthenic syndromes and the neuromuscular junction. Current Opinion in Neurology. 27, 5 (Oct. 2014), 566–575. https://doi.org/10.1097/WCO.0000000000000134.
[53]
Cup, E.H. et al. 2007. Exercise Therapy and Other Types of Physical Therapy for Patients With Neuromuscular Diseases: A Systematic Review. Archives of Physical Medicine and Rehabilitation. 88, 11 (Nov. 2007), 1452–1464. https://doi.org/10.1016/j.apmr.2007.07.024.
[54]
Dalakas, M.C. 2015. Inflammatory Muscle Diseases. New England Journal of Medicine. 372, 18 (Apr. 2015), 1734–1747. https://doi.org/10.1056/NEJMra1402225.
[55]
Darabid, H. et al. 2014. Neuromuscular synaptogenesis: coordinating partners with multiple functions. Nature Reviews Neuroscience. 15, 11 (Nov. 2014), 703–718. https://doi.org/10.1038/nrn3821.
[56]
Dasen, J.S. and Jessell, T.M. 2009. Chapter Six Hox Networks and the Origins of Motor Neuron Diversity. Hox Genes. Elsevier. 169–200.
[57]
Davidson, G.L. et al. 2012. Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. Journal of Neurology. 259, 8 (Aug. 2012), 1673–1685. https://doi.org/10.1007/s00415-011-6397-y.
[58]
Davies, A.M. 2013. Regulation of Neuronal Survival by Neurotrophins in the Developing Peripheral Nervous System. Patterning and Cell Type Specification in the Developing CNS and PNS. Elsevier. 303–311.
[59]
Dimachkie, M.M. and Barohn, R.J. 2013. Guillain-Barré Syndrome and Variants. Neurologic Clinics. 31, 2 (May 2013), 491–510. https://doi.org/10.1016/j.ncl.2013.01.005.
[60]
Dubrey, S. et al. 2015. The transthyretin amyloidoses: advances in therapy. Postgraduate Medical Journal. 91, 1078 (Aug. 2015), 439–448. https://doi.org/10.1136/postgradmedj-2014-133224.
[61]
Duncan, J.S. et al. 2016. Brain imaging in the assessment for epilepsy surgery. The Lancet Neurology. 15, 4 (Apr. 2016), 420–433. https://doi.org/10.1016/S1474-4422(15)00383-X.
[62]
Ebens, A. et al. 1996. Hepatocyte Growth Factor/Scatter Factor Is an Axonal Chemoattractant and a Neurotrophic Factor for Spinal Motor Neurons. Neuron. 17, 6 (Dec. 1996), 1157–1172. https://doi.org/10.1016/S0896-6273(00)80247-0.
[63]
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.
[64]
Evers, M.M. et al. 2015. Antisense oligonucleotides in therapy for neurodegenerative disorders. Advanced Drug Delivery Reviews. 87, (June 2015), 90–103. https://doi.org/10.1016/j.addr.2015.03.008.
[65]
Ferlini, A. et al. 2013. Biomarkers in Rare Diseases. Public Health Genomics. 16, 6 (2013), 313–321. https://doi.org/10.1159/000355938.
[66]
Fernández, A. et al. 2017. A history of genome editing in mammals. Mammalian Genome. 28, 7–8 (Aug. 2017), 237–246. https://doi.org/10.1007/s00335-017-9699-2.
[67]
Forbes, S.C. et al. 2014. Magnetic Resonance Imaging and Spectroscopy Assessment of Lower Extremity Skeletal Muscles in Boys with Duchenne Muscular Dystrophy: A Multicenter Cross Sectional Study. PLoS ONE. 9, 9 (Sept. 2014). https://doi.org/10.1371/journal.pone.0106435.
[68]
Free guides: http://www.plainenglish.co.uk/free-guides.html.
[69]
Fuglsang-Frederiksen, A. 2006. The role of different EMG methods in evaluating myopathy. Clinical Neurophysiology. 117, 6 (June 2006), 1173–1189. https://doi.org/10.1016/j.clinph.2005.12.018.
[70]
Fuller, G. and Manford, M. 2010. Neurology: an illustrated colour text. Churchill Livingstone.
[71]
Gabrielle Natalie Samuel 2017. The UK’s 100,000 Genomes Project: manifesting policymakers’ expectations. New Genetics and Society. 36, 4 (2017). https://doi.org/10.1080/14636778.2017.1370671.
[72]
Garner, M. et al. 2012. A framework for the evaluation of patient information leaflets. Health Expectations. 15, 3 (Sept. 2012), 283–294. https://doi.org/10.1111/j.1369-7625.2011.00665.x.
[73]
Ghaoui, R. et al. 2015. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy. JAMA Neurology. 72, 12 (Dec. 2015). https://doi.org/10.1001/jamaneurol.2015.2274.
[74]
Gilhus, N.E. 2016. Myasthenia Gravis. New England Journal of Medicine. 375, 26 (Dec. 2016), 2570–2581. https://doi.org/10.1056/NEJMra1602678.
[75]
Glover, G.H. and Schneider, E. 1991. Three-point dixon technique for true water/fat decomposition withB0 inhomogeneity correction. Magnetic Resonance in Medicine. 18, 2 (Apr. 1991), 371–383. https://doi.org/10.1002/mrm.1910180211.
[76]
Goemans, N.M. et al. 2011. Systemic Administration of PRO051 in Duchenne’s Muscular Dystrophy. New England Journal of Medicine. 364, 16 (Apr. 2011), 1513–1522. https://doi.org/10.1056/NEJMoa1011367.
[77]
Gordon, E. et al. 2016. Advances in neuroimaging in frontotemporal dementia. Journal of Neurochemistry. 138, (Aug. 2016), 193–210. https://doi.org/10.1111/jnc.13656.
[78]
Gordon, T. and Sulaiman, O.A. 2012. Nerve Regeneration in the Peripheral Nervous System. Neuroglia. H. Kettenmann, ed. Oxford University Press. 701–714.
[79]
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.
[80]
Greenfield, A. 2017. Editing mammalian genomes: ethical considerations. Mammalian Genome. 28, 7–8 (Aug. 2017), 388–393. https://doi.org/10.1007/s00335-017-9702-y.
[81]
Griffin, B.H. et al. 2017. The 100 000 Genomes Project: What it means for paediatrics. Archives of disease in childhood - Education & practice edition. 102, 2 (Apr. 2017), 105–107. https://doi.org/10.1136/archdischild-2016-311029.
[82]
Guidance for Paediatric Physiotherapists - Managing Neuromuscular Disorders: http://apcp.csp.org.uk/publications/guidance-paediatric-physiotherapists-managing-neuromuscular-disorders.
[83]
Hardie, D.G. 2006. AMPK: A Key Sensor of Fuel and Energy Status in Skeletal Muscle. Physiology. 21, 1 (Feb. 2006), 48–60. https://doi.org/10.1152/physiol.00044.2005.
[84]
Harland, R. 2000. Neural induction. Current Opinion in Genetics & Development. 10, 4 (Aug. 2000), 357–362. https://doi.org/10.1016/S0959-437X(00)00096-4.
[85]
Harridge, S.D.R. et al. 1996. Whole-muscle and single-fibre contractile properties and myosin heavy chain isoforms in humans. Pflügers Archiv - European Journal of Physiology. 432, 5 (Sept. 1996), 913–920. https://doi.org/10.1007/s004240050215.
[86]
Hawkins, P.N. et al. 2015. Evolving landscape in the management of transthyretin amyloidosis. Annals of Medicine. 47, 8 (Nov. 2015), 625–638. https://doi.org/10.3109/07853890.2015.1068949.
[87]
Hawley, J.A. et al. 2014. Integrative Biology of Exercise. Cell. 159, 4 (Nov. 2014), 738–749. https://doi.org/10.1016/j.cell.2014.10.029.
[88]
Hilton-Jones, D. and Turner, M.R. eds 2014. Oxford textbook of neuromuscular disorders. Oxford University Press.
[89]
Hoch, W. et al. 2001. Auto-antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies. Nature Medicine. 7, 3 (Mar. 2001), 365–368. https://doi.org/10.1038/85520.
[90]
Hoffmann, G.F. et al. 2009. Inherited metabolic diseases: a clinical approach. Springer.
[91]
Hoier, B. and Hellsten, Y. 2014. Exercise-Induced Capillary Growth in Human Skeletal Muscle and the Dynamics of VEGF. Microcirculation. 21, 4 (May 2014), 301–314. https://doi.org/10.1111/micc.12117.
[92]
Hollak, C.E.M. and Lachmann, R. eds 2016. Inherited metabolic disease in adults: a clinical guide. Oxford University Press.
[93]
Hollak, C.E.M. and Lachmann, R. eds 2016. Inherited metabolic disease in adults: a clinical guide. Oxford University Press.
[94]
Hollingsworth, K.G. et al. 2012. Towards harmonization of protocols for MRI outcome measures in skeletal muscle studies: Consensus recommendations from two TREAT-NMD NMR workshops, 2 May 2010, Stockholm, Sweden, 1–2 October 2009, Paris, France. Neuromuscular Disorders. 22, (Oct. 2012), S54–S67. https://doi.org/10.1016/j.nmd.2012.06.005.
[95]
How to Write a Lay Summary | DCC How-to Guides: http://www.dcc.ac.uk/resources/how-guides/.
[96]
How to Write a Lay Summary | Digital Curation Centre: http://www.dcc.ac.uk/resources/how-guides/write-lay-summary.
[97]
Hull, J. et al. 2012. British Thoracic Society guideline for respiratory management of children with neuromuscular weakness. Thorax. 67, Suppl 1 (July 2012), i1–i40. https://doi.org/10.1136/thoraxjnl-2012-201964.
[98]
Irene Colombo 2015. Congenital myopathies: Natural history of a large pediatric cohort. Neurology. 84, 1 (2015). https://doi.org/10.1212/WNL.0000000000001110.
[99]
Irina Dudanova 2012. Genetic Evidence for a Contribution of EphA:EphrinA Reverse Signaling to Motor Axon Guidance. Journal of Neuroscience. 32, 15 (2012), 5209–5215.
[100]
Jain, K.K. ed. 2015. Applied neurogenomics. Humana Press.
[101]
Jean-Yves Hogrel 2016. Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy. Neurology. 86, 11 (2016). https://doi.org/10.1212/WNL.0000000000002464.
[102]
Jeppesen, T.D. et al. 2006. Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy. Brain. 129, 12 (June 2006), 3402–3412. https://doi.org/10.1093/brain/awl149.
[103]
Jessell, T.M. 2000. Neuronal specification in the spinal cord: inductive signals and transcriptional codes. Nature Reviews Genetics. 1, 1 (Oct. 2000), 20–29. https://doi.org/10.1038/35049541.
[104]
Jessen, K.R. et al. 2015. Schwann Cells: Development and Role in Nerve Repair. Cold Spring Harbor Perspectives in Biology. 7, 7 (July 2015). https://doi.org/10.1101/cshperspect.a020487.
[105]
Jessen, K.R. and Mirsky, R. 2005. The origin and development of glial cells in peripheral nerves. Nature Reviews Neuroscience. 6, 9 (Sept. 2005), 671–682. https://doi.org/10.1038/nrn1746.
[106]
Jessen, K.R. and Mirsky, R. 2016. The repair Schwann cell and its function in regenerating nerves. The Journal of Physiology. 594, 13 (July 2016), 3521–3531. https://doi.org/10.1113/JP270874.
[107]
Jones, D.A. et al. 2004. Skeletal muscle from molecules to movement: a textbook of muscle physiology for sport, exercise, physiotherapy and medicine. Churchill Livingstone.
[108]
Kang, J.-H. et al. 2015. The Alzheimer’s Disease Neuroimaging Initiative 2 Biomarker Core: A review of progress and plans. Alzheimer’s & Dementia. 11, 7 (July 2015), 772–791. https://doi.org/10.1016/j.jalz.2015.05.003.
[109]
Kanning, K.C. et al. 2010. Motor Neuron Diversity in Development and Disease. Annual Review of Neuroscience. 33, 1 (June 2010), 409–440. https://doi.org/10.1146/annurev.neuro.051508.135722.
[110]
Kao, T.-J. et al. 2012. Eph and ephrin signaling: Lessons learned from spinal motor neurons. Seminars in Cell & Developmental Biology. 23, 1 (Feb. 2012), 83–91. https://doi.org/10.1016/j.semcdb.2011.10.016.
[111]
Karin E. Lundin 2015. Oligonucleotide Therapies: The Past and the Present. Human Gene Therapy. 26, 8 (2015). https://doi.org/10.1089/hum.2015.070.
[112]
Keith Baar 2014. Using Molecular Biology to Maximize Concurrent Training. Sports Medicine (Auckland, N.z.). 44, Suppl 2 (2014). https://doi.org/10.1007/s40279-014-0252-0.
[113]
Kernell, D. 2006. The Motoneurone and its Muscle Fibres. Oxford University Press.
[114]
Khorkova, O. and Wahlestedt, C. 2017. Oligonucleotide therapies for disorders of the nervous system. Nature Biotechnology. 35, 3 (Mar. 2017), 249–263. https://doi.org/10.1038/nbt.3784.
[115]
Kimberly Amburgey 2017. A natural history study of X-linked myotubular myopathy. Neurology. 89, 13 (2017). https://doi.org/10.1212/WNL.0000000000004415.
[116]
Kinali, M. et al. 2009. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. The Lancet Neurology. 8, 10 (Oct. 2009), 918–928. https://doi.org/10.1016/S1474-4422(09)70211-X.
[117]
Koneczny, I. et al. 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 (Nov. 2013). https://doi.org/10.1371/journal.pone.0080695.
[118]
Koneczny, I. et al. 2014. The role of muscle-specific tyrosine kinase (MuSK) and mystery of MuSK myasthenia gravis. Journal of Anatomy. 224, 1 (Jan. 2014), 29–35. https://doi.org/10.1111/joa.12034.
[119]
Ladle, D.R. et al. 2007. Assembly of Motor Circuits in the Spinal Cord: Driven to Function by Genetic and Experience-Dependent Mechanisms. Neuron. 56, 2 (Oct. 2007), 270–283. https://doi.org/10.1016/j.neuron.2007.09.026.
[120]
Leslie Jacobson 1999. Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice. Journal of Clinical Investigation. 103, 7 (1999). https://doi.org/10.1172/JCI5943.
[121]
Li, L. et al. 2018. Neuromuscular Junction Formation, Aging, and Disorders. Annual Review of Physiology. 80, 1 (Feb. 2018). https://doi.org/10.1146/annurev-physiol-022516-034255.
[122]
Lin, G. et al. 2017. Amyotrophic Lateral Sclerosis Pathogenesis Converges on Defects in Protein Homeostasis Associated with TDP-43 Mislocalization and Proteasome-Mediated Degradation Overload. Fly Models of Human Diseases. Elsevier. 111–171.
[123]
Lu, C.-H. et al. 2015. Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis. Neurology. 84, 22 (June 2015), 2247–2257. https://doi.org/10.1212/WNL.0000000000001642.
[124]
Machado, P. et al. 2013. Update in inclusion body myositis. Current Opinion in Rheumatology. 25, 6 (Nov. 2013), 763–771. https://doi.org/10.1097/01.bor.0000434671.77891.9a.
[125]
Machado, P.M. et al. 2014. Ongoing Developments in Sporadic Inclusion Body Myositis. Current Rheumatology Reports. 16, 12 (Dec. 2014). https://doi.org/10.1007/s11926-014-0477-9.
[126]
Machado, P.M. et al. 2014. Sporadic inclusion body myositis. Current Opinion in Neurology. 27, 5 (Oct. 2014), 591–598. https://doi.org/10.1097/WCO.0000000000000129.
[127]
Marie-Christine Birling 2017. Modeling human disease in rodents by CRISPR/Cas9 genome editing. Mammalian Genome. 28, 7 (2017). https://doi.org/10.1007/s00335-017-9703-x.
[128]
Matthew N Meriggioli 2009. Autoimmune myasthenia gravis: emerging clinical and biological heterogeneity. Lancet neurology. 8, 5 (2009). https://doi.org/10.1016/S1474-4422(09)70063-8.
[129]
Matthews, E. et al. 2010. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain. 133, 1 (Jan. 2010), 9–22. https://doi.org/10.1093/brain/awp294.
[130]
Mendell, J.R. et al. 2013. Eteplirsen for the treatment of Duchenne muscular dystrophy. Annals of Neurology. 74, 5 (Nov. 2013), 637–647. https://doi.org/10.1002/ana.23982.
[131]
Mendell, J.R. et al. 2016. Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy. Annals of Neurology. 79, 2 (Feb. 2016), 257–271. https://doi.org/10.1002/ana.24555.
[132]
Menezes, M.P. and North, K.N. 2012. Inherited neuromuscular disorders: Pathway to diagnosis. Journal of Paediatrics and Child Health. 48, 6 (June 2012), 458–465. https://doi.org/10.1111/j.1440-1754.2011.02210.x.
[133]
Metzker, M.L. 2010. Sequencing technologies — the next generation. Nature Reviews Genetics. 11, 1 (Jan. 2010), 31–46. https://doi.org/10.1038/nrg2626.
[134]
MGI-Mouse Genome Informatics -The international database resource for the laboratory mouse: http://www.informatics.jax.org/.
[135]
Mhoriam Ahmed 2016. Targeting Protein Homeostasis in Sporadic Inclusion Body Myositis. Science translational medicine. 8, 331 (2016). https://doi.org/10.1126/scitranslmed.aad4583.
[136]
Michael Benatar 2016. ALS Biomarkers for Therapy Development: State of the Field & Future Directions. Muscle & nerve. 53, 2 (2016). https://doi.org/10.1002/mus.24979.
[137]
Michael P. Wiggs 2015. Can endurance exercise preconditioning prevention disuse muscle atrophy? Frontiers in Physiology. 6, (2015). https://doi.org/10.3389/fphys.2015.00063.
[138]
Michell, A. 2013. Understanding EMG. Oxford University Press.
[139]
Miguel A Martín 2014. Glycogen Storage Disease Type V. (2014).
[140]
Milestones timeline : Nature Milestones in DNA: https://www.nature.com/milestones/miledna/timeline.html.
[141]
Monahan, Z. et al. 2016. Stress granules at the intersection of autophagy and ALS. Brain Research. 1649, (Oct. 2016), 189–200. https://doi.org/10.1016/j.brainres.2016.05.022.
[142]
Monk, K.R. et al. 2015. New insights on schwann cell development. Glia. 63, 8 (Aug. 2015), 1376–1393. https://doi.org/10.1002/glia.22852.
[143]
Morgan, S. and Orrell, R.W. 2016. Pathogenesis of amyotrophic lateral sclerosis. British Medical Bulletin. 119, 1 (Sept. 2016), 87–98. https://doi.org/10.1093/bmb/ldw026.
[144]
Morrow, J.M. et al. 2016. MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study. The Lancet Neurology. 15, 1 (Jan. 2016), 65–77. https://doi.org/10.1016/S1474-4422(15)00242-2.
[145]
Muntoni, F. et al. 2003. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. The Lancet Neurology. 2, 12 (Dec. 2003), 731–740. https://doi.org/10.1016/S1474-4422(03)00585-4.
[146]
Muscular Dystrophy UK: http://www.musculardystrophyuk.org/.
[147]
Nancy D Leslie 2014. Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (2014).
[148]
Nancy Leslie 2017. Pompe Disease. (2017).
[149]
Needham, M. and Mastaglia, F.L. 2016. Sporadic inclusion body myositis: A review of recent clinical advances and current approaches to diagnosis and treatment. Clinical Neurophysiology. 127, 3 (Mar. 2016), 1764–1773. https://doi.org/10.1016/j.clinph.2015.12.011.
[150]
Nerve Signaling: https://www.nobelprize.org/educational/medicine/nerve_signaling/index.html.
[151]
Neuromuscular | Department of Neurology: https://neuro.wustl.edu/education/fellowships/neuromuscular/.
[152]
Neuromuscular Disease Centre: http://neuromuscular.wustl.edu/.
[153]
Nishimune, H. 2012. Active zones of mammalian neuromuscular junctions: formation, density, and aging. Annals of the New York Academy of Sciences. 1274, 1 (Dec. 2012), 24–32. https://doi.org/10.1111/j.1749-6632.2012.06836.x.
[154]
Nishimune, H. et al. 2008. Laminins promote postsynaptic maturation by an autocrine mechanism at the neuromuscular junction. The Journal of Cell Biology. 182, 6 (Sept. 2008), 1201–1215. https://doi.org/10.1083/jcb.200805095.
[155]
North, K.N. et al. 2014. Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders. 24, 2 (Feb. 2014), 97–116. https://doi.org/10.1016/j.nmd.2013.11.003.
[156]
North, K.N. et al. 2014. Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders. 24, 2 (Feb. 2014), 97–116. https://doi.org/10.1016/j.nmd.2013.11.003.
[157]
Nowell, M. et al. 2017. Resection planning in extratemporal epilepsy surgery using 3D multimodality imaging and intraoperative MRI. British Journal of Neurosurgery. 31, 4 (July 2017), 468–470. https://doi.org/10.1080/02688697.2016.1265086.
[158]
O’Brien, T.D. et al. 2010. In vivo measurements of muscle specific tension in adults and children. Experimental Physiology. 95, 1 (Jan. 2010), 202–210. https://doi.org/10.1113/expphysiol.2009.048967.
[159]
O’Connor, E. et al. 2018. Clinical and research strategies for limb-girdle congenital myasthenic syndromes. Annals of the New York Academy of Sciences. (Jan. 2018). https://doi.org/10.1111/nyas.13520.
[160]
O’Grady, G.L. et al. 2016. Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. Annals of Neurology. 80, 1 (July 2016), 101–111. https://doi.org/10.1002/ana.24687.
[161]
Olivé, M. et al. 2013. Myofibrillar myopathies. Current Opinion in Neurology. 26, 5 (Oct. 2013), 527–535. https://doi.org/10.1097/WCO.0b013e328364d6b1.
[162]
Olpin, S.E. et al. 2015. The investigation and management of metabolic myopathies. Journal of Clinical Pathology. 68, 6 (June 2015), 410–417. https://doi.org/10.1136/jclinpath-2014-202808.
[163]
OMIM - Online Mendelian Inheritance in Man: https://www.omim.org/.
[164]
Ørngreen, M.C. and Vissing, J. 2017. Treatment Opportunities in Patients With Metabolic Myopathies. Current Treatment Options in Neurology. 19, 11 (Nov. 2017). https://doi.org/10.1007/s11940-017-0473-2.
[165]
Orrell, Richard WBarclay, Chris Diagnosis and management of motor neurone disease. Practitioner. 260, 17–21.
[166]
Otto, M. et al. 2012. Roadmap and standard operating procedures for biobanking and discovery of neurochemical markers in ALS. Amyotrophic Lateral Sclerosis. 13, 1 (Jan. 2012), 1–10. https://doi.org/10.3109/17482968.2011.627589.
[167]
Paganoni, S. and Amato, A. 2013. Electrodiagnostic Evaluation of Myopathies. Physical Medicine and Rehabilitation Clinics of North America. 24, 1 (Feb. 2013), 193–207. https://doi.org/10.1016/j.pmr.2012.08.017.
[168]
Part two - The specifics - Access to Understanding: http://www.access2understanding.org/guidance/part-two-the-specifics/.
[169]
Pasterkamp, R.J. 2012. Getting neural circuits into shape with semaphorins. Nature Reviews Neuroscience. 13, 9 (Aug. 2012), 605–618. https://doi.org/10.1038/nrn3302.
[170]
Peter S. Zammit 2004. Muscle satellite cells adopt divergent fates: a mechanism for self-renewal? The Journal of Cell Biology. 166, 3 (2004). https://doi.org/10.1083/jcb.200312007.
[171]
Plante-Bordeneuve, V. et al. 2007. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology. 69, 7 (Aug. 2007), 693–698. https://doi.org/10.1212/01.wnl.0000267338.45673.f4.
[172]
Preston, D.C. and Shapiro, B.E. 2013. Electromyography and neuromuscular disorders: clinical-electrophysiologic correlations. Elsevier Saunders.
[173]
Purves, D. 2001. Neuroscience. National Library of Medicine.
[174]
Quijano-Roy, S. et al. 2011. Muscle Imaging in Congenital Myopathies. Seminars in Pediatric Neurology. 18, 4 (Dec. 2011), 221–229. https://doi.org/10.1016/j.spen.2011.10.003.
[175]
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 (1996).
[176]
R Klein 1994. Role of neurotrophins in mouse neuronal development. The FASEB Journal. 8, 10 (1994), 738–744.
[177]
Ravenscroft, G. et al. 2017. New era in genetics of early-onset muscle disease: Breakthroughs and challenges. Seminars in Cell & Developmental Biology. 64, (Apr. 2017), 160–170. https://doi.org/10.1016/j.semcdb.2016.08.002.
[178]
Ravenscroft, G. et al. 2015. Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus. Brain. 138, 2 (Feb. 2015), 246–268. https://doi.org/10.1093/brain/awu368.
[179]
Readable | Free Readability Test Tool: https://www.webpagefx.com/tools/read-able/.
[180]
Rees, J.H. 2004. Paraneoplastic syndromes: when to suspect, how to confirm, and how to manage. Journal of Neurology, Neurosurgery & Psychiatry. 75, suppl_2 (June 2004), ii43–ii50. https://doi.org/10.1136/jnnp.2004.040378.
[181]
Reilly, M. and Fridman, V. 2015. Inherited Neuropathies. Seminars in Neurology. 35, 04 (Oct. 2015), 407–423. https://doi.org/10.1055/s-0035-1558981.
[182]
Renton, A.E. et al. 2014. State of play in amyotrophic lateral sclerosis genetics. Nature Neuroscience. 17, 1 (Jan. 2014), 17–23. https://doi.org/10.1038/nn.3584.
[183]
Richard J. Barohn 2014. A PATTERN RECOGNITION APPROACH TO THE PATIENT WITH A SUSPECTED MYOPATHY. Neurologic clinics. 32, 3 (2014). https://doi.org/10.1016/j.ncl.2014.04.008.
[184]
Richards, S. et al. 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 (May 2015), 405–423. https://doi.org/10.1038/gim.2015.30.
[185]
Ricotti, V. et al. 2013. Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy. Journal of Neurology, Neurosurgery & Psychiatry. 84, 6 (June 2013), 698–705. https://doi.org/10.1136/jnnp-2012-303902.
[186]
Robert M. Brownstone 2010. Spinal interneurons providing input to the final common path during locomotion. Progress in brain research. 187, (2010). https://doi.org/10.1016/B978-0-444-53613-6.00006-X.
[187]
Rodríguez Cruz, P.M. et al. 2014. Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature. Neuromuscular Disorders. 24, 12 (Dec. 2014), 1103–1110. https://doi.org/10.1016/j.nmd.2014.07.005.
[188]
Rodríguez Cruz, P.M. et al. 2014. Inherited disorders of the neuromuscular junction: an update. Journal of Neurology. 261, 11 (Nov. 2014), 2234–2243. https://doi.org/10.1007/s00415-014-7520-7.
[189]
Ross, J. et al. 2012. Defects in Glycosylation Impair Satellite Stem Cell Function and Niche Composition in the Muscles of the Dystrophic Large Mouse. STEM CELLS. 30, 10 (Oct. 2012), 2330–2341. https://doi.org/10.1002/stem.1197.
[190]
Rossor, A.M. et al. 2015. A practical approach to the genetic neuropathies. Practical Neurology. 15, 3 (June 2015), 187–198. https://doi.org/10.1136/practneurol-2015-001095.
[191]
Rossor, A.M. et al. 2015. A practical approach to the genetic neuropathies. Practical Neurology. 15, 3 (June 2015), 187–198. https://doi.org/10.1136/practneurol-2015-001095.
[192]
Rossor, A.M. et al. 2015. A practical approach to the genetic neuropathies. Practical Neurology. 15, 3 (June 2015), 187–198. https://doi.org/10.1136/practneurol-2015-001095.
[193]
Rossor, A.M. et al. 2015. A practical approach to the genetic neuropathies. Practical Neurology. 15, 3 (June 2015), 187–198. https://doi.org/10.1136/practneurol-2015-001095.
[194]
Rossor, A.M. et al. 2015. A practical approach to the genetic neuropathies. Practical Neurology. 15, 3 (June 2015), 187–198. https://doi.org/10.1136/practneurol-2015-001095.
[195]
Rossor, A.M. et al. 2018. Antisense oligonucleotides and other genetic therapies made simple. Practical Neurology. (Feb. 2018). https://doi.org/10.1136/practneurol-2017-001764.
[196]
Rossor, A.M. et al. 2017. Peripheral neuropathy in complex inherited diseases: an approach to diagnosis. Journal of Neurology, Neurosurgery & Psychiatry. 88, 10 (Oct. 2017), 846–863. https://doi.org/10.1136/jnnp-2016-313960.
[197]
Rossor, A.M. et al. 2016. Recent advances in the genetic neuropathies. Current Opinion in Neurology. (Sept. 2016). https://doi.org/10.1097/WCO.0000000000000373.
[198]
Rossor, A.M. et al. 2016. Recent advances in the genetic neuropathies. Current Opinion in Neurology. (Sept. 2016). https://doi.org/10.1097/WCO.0000000000000373.
[199]
Rossor, A.M. et al. 2012. The distal hereditary motor neuropathies. Journal of Neurology, Neurosurgery & Psychiatry. 83, 1 (Jan. 2012), 6–14. https://doi.org/10.1136/jnnp-2011-300952.
[200]
Rudolf, R. et al. 2014. Degeneration of Neuromuscular Junction in Age and Dystrophy. Frontiers in Aging Neuroscience. 6, (May 2014). https://doi.org/10.3389/fnagi.2014.00099.
[201]
Ruegsegger, C. and Saxena, S. 2016. Proteostasis impairment in ALS. Brain Research. 1648, (Oct. 2016), 571–579. https://doi.org/10.1016/j.brainres.2016.03.032.
[202]
Salzer, J.L. 2015. Schwann Cell Myelination. Cold Spring Harbor Perspectives in Biology. 7, 8 (Aug. 2015). https://doi.org/10.1101/cshperspect.a020529.
[203]
Samuel, G.N. and 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. (Oct. 2017). https://doi.org/10.1007/s11019-017-9810-1.
[204]
Saudubray, J.M. et al. eds 2016. Inborn metabolic diseases: diagnosis and treatment. Springer.
[205]
Schlosser, G. 2006. Induction and specification of cranial placodes. Developmental Biology. 294, 2 (June 2006), 303–351. https://doi.org/10.1016/j.ydbio.2006.03.009.
[206]
Schofield, D. et al. 2017. Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases. npj Genomic Medicine. 2, 1 (Dec. 2017). https://doi.org/10.1038/s41525-017-0006-7.
[207]
Schröder, R. and Schoser, B. 2009. Myofibrillar Myopathies: A Clinical and Myopathological Guide. Brain Pathology. 19, 3 (July 2009), 483–492. https://doi.org/10.1111/j.1750-3639.2009.00289.x.
[208]
Shaibani, A. 2014. A Video Atlas of Neuromuscular Disorders. Oxford University Press.
[209]
Sharp, L. and Trivedi, J.R. 2014. Treatment and Management of Neuromuscular Channelopathies. Current Treatment Options in Neurology. 16, 10 (Oct. 2014). https://doi.org/10.1007/s11940-014-0313-6.
[210]
Simon, N.G. et al. 2014. Quantifying disease progression in amyotrophic lateral sclerosis. Annals of Neurology. 76, 5 (Nov. 2014), 643–657. https://doi.org/10.1002/ana.24273.
[211]
Singhal, N. and Martin, P.T. 2011. Role of extracellular matrix proteins and their receptors in the development of the vertebrate neuromuscular junction. Developmental Neurobiology. 71, 11 (Nov. 2011), 982–1005. https://doi.org/10.1002/dneu.20953.
[212]
Spillane, J. et al. 2010. Myasthenia and related disorders of the neuromuscular junction. Journal of Neurology, Neurosurgery & Psychiatry. 81, 8 (Aug. 2010), 850–857. https://doi.org/10.1136/jnnp.2008.169367.
[213]
Sun, Y. et al. 2015. Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome? Human Mutation. 36, 6 (June 2015), 648–655. https://doi.org/10.1002/humu.22783.
[214]
Sveen, M.-L. et al. 2013. Resistance training in patients with limb-girdle and becker muscular dystrophies. Muscle & Nerve. 47, 2 (Feb. 2013), 163–169. https://doi.org/10.1002/mus.23491.
[215]
T. D. Bunker 1983. An information leaflet for surgical patients. Annals of The Royal College of Surgeons of England. 65, 4 (1983).
[216]
Tan, S.V. et al. 2011. Refined exercise testing can aid dna-based diagnosis in muscle channelopathies. Annals of Neurology. 69, 2 (Feb. 2011), 328–340. https://doi.org/10.1002/ana.22238.
[217]
Taniguchi, M. et al. 1997. Disruption of Semaphorin III/D Gene Causes Severe Abnormality in Peripheral Nerve Projection. Neuron. 19, 3 (Sept. 1997), 519–530. https://doi.org/10.1016/S0896-6273(00)80368-2.
[218]
Teboul, L. et al. 2017. Introduction to Mammalian Genome Special Issue: Genome Editing. Mammalian Genome. 28, 7–8 (Aug. 2017), 235–236. https://doi.org/10.1007/s00335-017-9708-5.
[219]
Thiede-Stan, N.K. and 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 (July 2015), 2403–2414. https://doi.org/10.1242/jcs.165555.
[220]
Thomas Wieser 2017. Carnitine Palmitoyltransferase II Deficiency. (2017).
[221]
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.
[222]
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, (2016). https://doi.org/10.1016/j.dadm.2016.05.005.
[223]
Vaithinathan, A.G. and Asokan, V. 2017. Public health and precision medicine share a goal. Journal of Evidence-Based Medicine. 10, 2 (May 2017), 76–80. https://doi.org/10.1111/jebm.12239.
[224]
Vakharia, V.N. et al. 2017. Accuracy of intracranial electrode placement for stereoelectroencephalography: A systematic review and meta-analysis. Epilepsia. 58, 6 (June 2017), 921–932. https://doi.org/10.1111/epi.13713.
[225]
Van Battum, E.Y. et al. 2015. Axon guidance proteins in neurological disorders. The Lancet Neurology. 14, 5 (May 2015), 532–546. https://doi.org/10.1016/S1474-4422(14)70257-1.
[226]
Venance, S.L. et al. 2006. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain. 129, 1 (Jan. 2006), 8–17. https://doi.org/10.1093/brain/awh639.
[227]
Victorian Department of Health / University of Melbourne: https://www2.health.vic.gov.au/.
[228]
Viegas, S. et al. 2012. Passive and active immunization models of MuSK-Ab positive myasthenia: Electrophysiological evidence for pre and postsynaptic defects. Experimental Neurology. 234, 2 (Apr. 2012), 506–512. https://doi.org/10.1016/j.expneurol.2012.01.025.
[229]
Vincent, A. 2002. Timeline: Unravelling the pathogenesis of myasthenia gravis. Nature Reviews Immunology. 2, 10 (Oct. 2002), 797–804. https://doi.org/10.1038/nri916.
[230]
Wang, L. et al. 2011. Anatomical Coupling of Sensory and Motor Nerve Trajectory via Axon Tracking. Neuron. 71, 2 (July 2011), 263–277. https://doi.org/10.1016/j.neuron.2011.06.021.
[231]
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 (Dec. 2005), 1019–1024. https://doi.org/10.1136/thx.2004.037424.
[232]
Wattjes, M.P. et al. 2010. Neuromuscular imaging in inherited muscle diseases. European Radiology. 20, 10 (Oct. 2010), 2447–2460. https://doi.org/10.1007/s00330-010-1799-2.
[233]
Wattjes, M.P. and Fischer, D. 2013. Neuromuscular imaging. Springer.
[234]
Welch, M.B. and Brummett, C.M. 2011. Peripheral Nervous SystemAnatomy and Function. Neuroscientific Foundations of Anesthesiology. G.A. Mashour and R. Lydic, eds. Oxford University Press. 133–140.
[235]
Willcocks, R.J. et al. 2016. Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort. Annals of Neurology. 79, 4 (Apr. 2016), 535–547. https://doi.org/10.1002/ana.24599.
[236]
Willison, H.J. et al. 2016. Guillain-Barré syndrome. The Lancet. 388, 10045 (Aug. 2016), 717–727. https://doi.org/10.1016/S0140-6736(16)00339-1.
[237]
Wood, N. 2012. Neurogenetics. Cambridge University Press.
[238]
Woollacott, I.O.C. and Rohrer, J.D. 2016. The clinical spectrum of sporadic and familial forms of frontotemporal dementia. Journal of Neurochemistry. 138, (Aug. 2016), 6–31. https://doi.org/10.1111/jnc.13654.
[239]
Yang, Y. et al. 2013. Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders. New England Journal of Medicine. 369, 16 (Oct. 2013), 1502–1511. https://doi.org/10.1056/NEJMoa1306555.
[240]
Yates, M. et al. 2016. EULAR/ERA-EDTA recommendations for the management of ANCA-associated vasculitis. Annals of the Rheumatic Diseases. 75, 9 (Sept. 2016), 1583–1594. https://doi.org/10.1136/annrheumdis-2016-209133.
[241]
American Journal of Respiratory and Critical Care Medicine.
[242]
American Journal of Roentgenology.
[243]
Best Practice in Memory Services: Learning from across England.
[244]
Motor neurone disease: assessment and management | Guidance and guidelines | NICE.
[245]
Qualification Process for Drug Development Tools.
[246]
2015. 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. 14, 9 (Sept. 2015), 883–892. https://doi.org/10.1016/S1474-4422(15)00152-0.
[247]
Strength training and aerobic exercise training for muscle disease - van der Kooi - 2005 - The Cochrane Library - Wiley Online Library.
[248]
Toolkit for producing patient information.pdf.
