Al-Chalabi, Ammar, Leonard H. van den Berg, and Jan Veldink. ‘Gene Discovery in Amyotrophic Lateral Sclerosis: Implications for Clinical Management’. Nature Reviews Neurology 13.2 (2017): 96–104. Web.
Andreasson, Ulf, Kaj Blennow, and Henrik Zetterberg. ‘Update on Ultrasensitive Technologies to Facilitate Research on Blood Biomarkers for Central Nervous System Disorders’. Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring 3 (2016): 98–102. Web.
Badders, Nisha M et al. ‘Selective Modulation of the Androgen Receptor AF2 Domain Rescues Degeneration in Spinal Bulbar Muscular Atrophy’. Nature Medicine 24.4 (2018): 427–437. Web.
Beitel, Lenore K. et al. ‘Mechanisms Mediating Spinal and Bulbar Muscular Atrophy: Investigations into Polyglutamine-Expanded Androgen Receptor Function and Dysfunction’. Frontiers in Neurology 4 (2013): n. pag. Web.
Belaya, Katsiaryna et al. ‘Mutations in Cause Congenital Myasthenic Syndrome and Bridge Myasthenic Disorders with Dystroglycanopathies’. Brain 138.9 (2015): 2493–2504. Web.
Benatar, Michael et al. ‘ALS Biomarkers for Therapy Development: State of the Field and Future Directions’. Muscle & Nerve 53.2 (2016): 169–182. Web.
Berlowitz, David J et al. ‘Identifying Who Will Benefit from Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis/Motor Neurone Disease in a Clinical Cohort’. Journal of Neurology, Neurosurgery & Psychiatry 87.3 (2016): 280–286. Web.
Birnkrant, David J, Katharine Bushby, Carla M Bann, Susan D Apkon, Angela Blackwell, David Brumbaugh, et al. ‘Diagnosis and Management of Duchenne Muscular Dystrophy, Part 1: Diagnosis, and Neuromuscular, Rehabilitation, Endocrine, and Gastrointestinal and Nutritional Management’. The Lancet Neurology 17.3 (2018): 251–267. Web.
Birnkrant, David J, Katharine Bushby, Carla M Bann, Benjamin A Alman, et al. ‘Diagnosis and Management of Duchenne Muscular Dystrophy, Part 2: Respiratory, Cardiac, Bone Health, and Orthopaedic Management’. The Lancet Neurology 17.4 (2018): 347–361. Web.
Birnkrant, David J, Katharine Bushby, Carla M Bann, Susan D Apkon, Angela Blackwell, Mary K Colvin, et al. ‘Diagnosis and Management of Duchenne Muscular Dystrophy, Part 3: Primary Care, Emergency Management, Psychosocial Care, and Transitions of Care across the Lifespan’. The Lancet Neurology 17.5 (2018): 445–455. Web.
Bonanomi, D., and S. L. Pfaff. ‘Motor Axon Pathfinding’. Cold Spring Harbor Perspectives in Biology 2.3 (2010): a001735–a001735. Web.
Brownstone, Robert M., and Tuan V. Bui. ‘Spinal Interneurons Providing Input to the Final Common Path during Locomotion’. Breathe, Walk and Chew: The Neural Challenge: Part I. Vol. 187. Elsevier, 2010. 81–95. Web. <https://linkinghub.elsevier.com/retrieve/pii/B978044453613600006X>.
Carrì, Maria Teresa, Nadia D’Ambrosi, and Mauro Cozzolino. ‘Pathways to Mitochondrial Dysfunction in ALS Pathogenesis’. Biochemical and Biophysical Research Communications 483.4 (2017): 1187–1193. Web.
Cortes, Constanza J. et al. ‘Muscle Expression of Mutant Androgen Receptor Accounts for Systemic and Motor Neuron Disease Phenotypes in Spinal and Bulbar Muscular Atrophy’. Neuron 82.2 (2014): 295–307. Web.
Couratier, P. et al. ‘Epidemiology of Amyotrophic Lateral Sclerosis: A Review of Literature’. Revue Neurologique 172.1 (2016): 37–45. Web.
Crisp, Sarah J., Dimitri M. Kullmann, and Angela Vincent. ‘Autoimmune Synaptopathies’. Nature Reviews Neuroscience 17.2 (2016): 103–117. Web.
---. ‘Autoimmune Synaptopathies’. Nature Reviews Neuroscience 17.2 (2016): 103–117. Web.
Cruz, Pedro M. Rodríguez, Jacqueline Palace, and David Beeson. ‘Congenital Myasthenic Syndromes and the Neuromuscular Junction’. Current Opinion in Neurology 27.5 (2014): 566–575. Web.
Darabid, Houssam, Anna P. Perez-Gonzalez, and Richard Robitaille. ‘Neuromuscular Synaptogenesis: Coordinating Partners with Multiple Functions’. Nature Reviews Neuroscience 15.11 (2014): 703–718. Web.
Dasen, Jeremy S., and Thomas M. Jessell. ‘Chapter Six Hox Networks and the Origins of Motor Neuron Diversity’. Hox Genes. Vol. 88. Elsevier, 2009. 169–200. Web. <https://linkinghub.elsevier.com/retrieve/pii/S007021530988006X>.
Drory, Vivian E. et al. ‘The Value of Muscle Exercise in Patients with Amyotrophic Lateral Sclerosis’. Journal of the Neurological Sciences 191.1–2 (2001): 133–137. Web.
Engel, Andrew G et al. ‘Congenital Myasthenic Syndromes: Pathogenesis, Diagnosis, and Treatment’. The Lancet Neurology 14.4 (2015): 420–434. Web.
Finkel, Richard S. et al. ‘Diagnosis and Management of Spinal Muscular Atrophy: Part 2: Pulmonary and Acute Care; Medications, Supplements and Immunizations; Other Organ Systems; and Ethics’. Neuromuscular Disorders 28.3 (2018): 197–207. Web.
Fratta, P. et al. ‘Correlation of Clinical and Molecular Features in Spinal Bulbar Muscular Atrophy’. Neurology 82.23 (2014): 2077–2084. Web.
Fuller, Geraint, and Mark Manford. Neurology: An Illustrated Colour Text. 3rd ed. Edinburgh: Churchill Livingstone Elsevier, 2010. Web. <http://ucl.alma.exlibrisgroup.com/view/action/uresolver.do?operation=resolveService&package_service_id=3669595080004761&institutionId=4761&customerId=4760>.
Gendron, Tania F. et al. ‘Poly(GP) Proteins Are a Useful Pharmacodynamic Marker for -Associated Amyotrophic Lateral Sclerosis’. Science Translational Medicine 9.383 (2017): n. pag. Web.
Gibson, Summer, and Verena Haringer. ‘Amyotrophic Lateral Sclerosis: Clinical Perspectives’. Orphan Drugs: Research and Reviews (2015): n. pag. Web.
Gilhus, Nils E. ‘Myasthenia Gravis’. New England Journal of Medicine 375.26 (2016): 2570–2581. Web.
Gordon, Elizabeth, Jonathan D. Rohrer, and Nick C. Fox. ‘Advances in Neuroimaging in Frontotemporal Dementia’. Journal of Neurochemistry 138 (2016): 193–210. Web.
Harland, Richard. ‘Neural Induction’. Current Opinion in Genetics & Development 10.4 (2000): 357–362. Web.
Harwood, Ceryl A., Christopher J. McDermott, and Pamela J. Shaw. ‘Clinical Aspects of Motor Neurone Disease’. Medicine 40.10 (2012): 540–545. Web.
Hughes, JP et al. ‘Principles of Early Drug Discovery’. British Journal of Pharmacology 162.6 (2011): 1239–1249. Web.
Jacobson, Leslie et al. ‘Plasma from Human Mothers of Fetuses with Severe Arthrogryposis Multiplex Congenita Causes Deformities in Mice’. Journal of Clinical Investigation 103.7 (1999): 1031–1038. Web.
Jessell, Thomas M. ‘Neuronal Specification in the Spinal Cord: Inductive Signals and Transcriptional Codes’. Nature Reviews Genetics 1.1 (2000): 20–29. Web.
Jones, Ross A. et al. ‘Cellular and Molecular Anatomy of the Human Neuromuscular Junction’. Cell Reports 21.9 (2017): 2348–2356. Web.
Kanning, Kevin C., Artem Kaplan, and Christopher E. Henderson. ‘Motor Neuron Diversity in Development and Disease’. Annual Review of Neuroscience 33.1 (2010): 409–440. Web.
Koneczny, Inga et al. ‘MuSK Myasthenia Gravis IgG4 Disrupts the Interaction of LRP4 with MuSK but Both IgG4 and IgG1-3 Can Disperse Preformed Agrin-Independent AChR Clusters’. PLoS ONE 8.11 (2013): n. pag. Web.
Koneczny, Inga, Judith Cossins, and Angela Vincent. ‘The Role of Muscle-Specific Tyrosine Kinase (MuSK) and Mystery of MuSK Myasthenia Gravis’. Journal of Anatomy 224.1 (2014): 29–35. Web.
Kusner, Linda L., and Henry J. Kaminski. ‘Myasthenia Gravis’. Neurobiology of Brain Disorders. Elsevier, 2015. 135–150. Web. <https://linkinghub.elsevier.com/retrieve/pii/B9780123982704000100>.
Ladle, David R., Eline Pecho-Vrieseling, and Silvia Arber. ‘Assembly of Motor Circuits in the Spinal Cord: Driven to Function by Genetic and Experience-Dependent Mechanisms’. Neuron 56.2 (2007): 270–283. Web.
Laurá, Matilde et al. ‘Prevalence and Orthopedic Management of Foot and Ankle Deformities in Charcot-Marie-Tooth Disease’. Muscle & Nerve 57.2 (2018): 255–259. Web.
Leung, Doris G. Other Proven and Putative Autoimmune Disorders of the Peripheral Nervous System. Vol. 1. Oxford University Press, 2017. Web. <http://oxfordmedicine.com/view/10.1093/med/9780199937837.001.0001/med-9780199937837-chapter-98>.
Li, Lei, Wen-Cheng Xiong, and Lin Mei. ‘Neuromuscular Junction Formation, Aging, and Disorders’. Annual Review of Physiology 80.1 (2018): 159–188. Web.
Lieberman, Andrew P. et al. ‘Peripheral Androgen Receptor Gene Suppression Rescues Disease in Mouse Models of Spinal and Bulbar Muscular Atrophy’. Cell Reports 7.3 (2014): 774–784. Web.
Lin, G., D. Mao, and H.J. Bellen. ‘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. Vol. 121. Elsevier, 2017. 111–171. Web. <https://linkinghub.elsevier.com/retrieve/pii/S0070215316301454>.
Lu, C.-H. et al. ‘Neurofilament Light Chain: A Prognostic Biomarker in Amyotrophic Lateral Sclerosis’. Neurology 84.22 (2015): 2247–2257. Web.
Malik, B. et al. ‘Absence of Disturbed Axonal Transport in Spinal and Bulbar Muscular Atrophy’. Human Molecular Genetics 20.9 (2011): 1776–1786. Web.
Malik, Bilal et al. ‘Co-Induction of the Heat Shock Response Ameliorates Disease Progression in a Mouse Model of Human Spinal and Bulbar Muscular Atrophy: Implications for Therapy’. Brain 136.3 (2013): 926–943. Web.
Manzano, Raquel et al. ‘Beyond Motor Neurons: Expanding the Clinical Spectrum in Kennedy’s Disease’. Journal of Neurology, Neurosurgery & Psychiatry 89.8 (2018): 808–812. Web.
Maragakis, Nicholas J. ‘What Can We Learn from the Edaravone Development Program for ALS?’ Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 18.sup1 (2017): 98–103. Web.
Mazzone, Elena S. et al. ‘Revised Upper Limb Module for Spinal Muscular Atrophy: Development of a New Module’. Muscle & Nerve 55.6 (2017): 869–874. Web.
Mercuri, Eugenio et al. ‘Diagnosis and Management of Spinal Muscular Atrophy: Part 1: Recommendations for Diagnosis, Rehabilitation, Orthopedic and Nutritional Care’. Neuromuscular Disorders 28.2 (2018): 103–115. Web.
Meriggioli, Matthew N, and Donald B Sanders. ‘Autoimmune Myasthenia Gravis: Emerging Clinical and Biological Heterogeneity’. The Lancet Neurology 8.5 (2009): 475–490. Web.
Milioto, Carmelo et al. ‘Beta-Agonist Stimulation Ameliorates the Phenotype of Spinal and Bulbar Muscular Atrophy Mice and Patient-Derived Myotubes’. Scientific Reports 7.1 (2017): n. pag. Web.
Mitsumoto, Hiroshi, Benjamin R Brooks, and Vincenzo Silani. ‘Clinical Trials in Amyotrophic Lateral Sclerosis: Why so Many Negative Trials and How Can Trials Be Improved?’ The Lancet Neurology 13.11 (2014): 1127–1138. Web.
Monahan, Zachary, Frank Shewmaker, and Udai Bhan Pandey. ‘Stress Granules at the Intersection of Autophagy and ALS’. Brain Research 1649 (2016): 189–200. Web.
Morgan, Sarah, and Richard W. Orrell. ‘Pathogenesis of Amyotrophic Lateral Sclerosis’. British Medical Bulletin 119.1 (2016): 87–98. Web.
Morren, John A, and Nestor Galvez-Jimenez. ‘Current and Prospective Disease-Modifying Therapies for Amyotrophic Lateral Sclerosis’. Expert Opinion on Investigational Drugs 21.3 (2012): 297–320. Web.
‘Motor Neurone Disease: Assessment and Management | Guidance and Guidelines | NICE’. n. pag. Web. <https://www.nice.org.uk/guidance/ng42>.
Nishimune, Hiroshi et al. ‘Laminins Promote Postsynaptic Maturation by an Autocrine Mechanism at the Neuromuscular Junction’. The Journal of Cell Biology 182.6 (2008): 1201–1215. Web.
O’Connor, Emily et al. ‘Clinical and Research Strategies for Limb-Girdle Congenital Myasthenic Syndromes’. Annals of the New York Academy of Sciences 1412.1 (2018): 102–112. Web.
Orrell, Richard WBarclay, Chris. ‘Diagnosis and Management of Motor Neurone Disease’. Practitioner 260 17–21. Web. <https://search.proquest.com/docview/1844334383/64C39DCAF3D346C0PQ/1?accountid=14511>.
Otto, Markus et al. ‘Roadmap and Standard Operating Procedures for Biobanking and Discovery of Neurochemical Markers in ALS’. Amyotrophic Lateral Sclerosis 13.1 (2012): 1–10. Web.
Peragallo, Jason H. ‘Pediatric Myasthenia Gravis’. Seminars in Pediatric Neurology 24.2 (2017): 116–121. Web.
Ramdharry, Gita M. et al. ‘A Pilot Study of Proximal Strength Training in Charcot-Marie-Tooth Disease’. Journal of the Peripheral Nervous System 19.4 (2014): 328–332. Web.
Ramsey, Danielle et al. ‘Revised Hammersmith Scale for Spinal Muscular Atrophy: A SMA Specific Clinical Outcome Assessment Tool’. PLOS ONE 12.2 (2017): n. pag. Web.
Reilly, Mary M. et al. ‘221st ENMC International Workshop’: Neuromuscular Disorders 27.12 (2017): 1138–1142. Web.
Renton, Alan E, Adriano Chiò, and Bryan J Traynor. ‘State of Play in Amyotrophic Lateral Sclerosis Genetics’. Nature Neuroscience 17.1 (2014): 17–23. Web.
Rodríguez Cruz, Pedro M. et al. ‘Congenital Myopathies with Secondary Neuromuscular Transmission Defects; A Case Report and Review of the Literature’. Neuromuscular Disorders 24.12 (2014): 1103–1110. Web.
Rodríguez Cruz, Pedro M., Jacqueline Palace, and David Beeson. ‘Inherited Disorders of the Neuromuscular Junction: An Update’. Journal of Neurology 261.11 (2014): 2234–2243. Web.
Rudolf, Rüdiger et al. ‘Degeneration of Neuromuscular Junction in Age and Dystrophy’. Frontiers in Aging Neuroscience 6 (2014): n. pag. Web.
Ruegsegger, Céline, and Smita Saxena. ‘Proteostasis Impairment in ALS’. Brain Research 1648 (2016): 571–579. Web.
Scoto, M et al. ‘Therapeutic Approaches for Spinal Muscular Atrophy (SMA)’. Gene Therapy 24.9 (2017): 514–519. Web.
Singhal, Neha, and Paul T. Martin. ‘Role of Extracellular Matrix Proteins and Their Receptors in the Development of the Vertebrate Neuromuscular Junction’. Developmental Neurobiology 71.11 (2011): 982–1005. Web.
Spillane, J. et al. ‘Lambert-Eaton Syndrome IgG Inhibits Transmitter Release via P/Q Ca2+ Channels’. Neurology 84.6 (2015): 575–579. Web.
Spillane, J., D. J. Beeson, and D. M. Kullmann. ‘Myasthenia and Related Disorders of the Neuromuscular Junction’. Journal of Neurology, Neurosurgery & Psychiatry 81.8 (2010): 850–857. Web.
Viegas, Stuart et al. ‘Passive and Active Immunization Models of MuSK-Ab Positive Myasthenia: Electrophysiological Evidence for Pre and Postsynaptic Defects’. Experimental Neurology 234.2 (2012): 506–512. Web.
Vincent, Angela. ‘Unravelling the Pathogenesis of Myasthenia Gravis’. Nature Reviews Immunology 2.10 (2002): 797–804. Web.
‘Volume 58, Issue 3, March 2016’. Volume 58, Issue 3, March 2016 n. pag. Web. <https://link.springer.com/journal/12031/58/3>.
Westerberg, Elisabet et al. ‘The Impact of Physical Exercise on Neuromuscular Function in Myasthenia Gravis Patients’. Medicine 97.31 (2018): n. pag. Web.
Wolfe, Gil I. et al. ‘Randomized Trial of Thymectomy in Myasthenia Gravis’. New England Journal of Medicine 375.6 (2016): 511–522. Web.
Woollacott, Ione O. C., and Jonathan D. Rohrer. ‘The Clinical Spectrum of Sporadic and Familial Forms of Frontotemporal Dementia’. Journal of Neurochemistry 138 (2016): 6–31. Web.
