Al-Chalabi, Ammar, Leonard H. van den Berg, and Jan Veldink. 2017. ‘Gene Discovery in Amyotrophic Lateral Sclerosis: Implications for Clinical Management’. Nature Reviews Neurology 13(2):96–104. doi: 10.1038/nrneurol.2016.182.
Andreasson, Ulf, Kaj Blennow, and Henrik Zetterberg. 2016. ‘Update on Ultrasensitive Technologies to Facilitate Research on Blood Biomarkers for Central Nervous System Disorders’. Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring 3:98–102. doi: 10.1016/j.dadm.2016.05.005.
Anon. n.d.-a. ‘Motor Neurone Disease: Assessment and Management | Guidance and Guidelines | NICE’.
Anon. n.d.-b. ‘Volume 58, Issue 3, March 2016’. Volume 58, Issue 3, March 2016.
Badders, Nisha M., Ane Korff, Helen C. Miranda, Pradeep K. Vuppala, Rebecca B. Smith, Brett J. Winborn, Emmanuelle R. Quemin, Bryce L. Sopher, Jennifer Dearman, James Messing, Nam Chul Kim, Jennifer Moore, Brian D. Freibaum, Anderson P. Kanagaraj, Baochang Fan, Heather Tillman, Ping-Chung Chen, Yingzhe Wang, Burgess B. Freeman III, Yimei Li, Hong Joo Kim, Albert R. La Spada, and J. Paul Taylor. 2018. ‘Selective Modulation of the Androgen Receptor AF2 Domain Rescues Degeneration in Spinal Bulbar Muscular Atrophy’. Nature Medicine 24(4):427–37. doi: 10.1038/nm.4500.
Beitel, Lenore K., Carlos Alvarado, Shaza Mokhtar, Miltiadis Paliouras, and Mark Trifiro. 2013. ‘Mechanisms Mediating Spinal and Bulbar Muscular Atrophy: Investigations into Polyglutamine-Expanded Androgen Receptor Function and Dysfunction’. Frontiers in Neurology 4. doi: 10.3389/fneur.2013.00053.
Belaya, Katsiaryna, Pedro M. Rodríguez Cruz, Wei Wei Liu, Susan Maxwell, Simon McGowan, Maria E. Farrugia, Richard Petty, Timothy J. Walls, Maryam Sedghi, Keivan Basiri, Wyatt W. Yue, Anna Sarkozy, Marta Bertoli, Matthew Pitt, Robin Kennett, Andrew Schaefer, Kate Bushby, Matt Parton, Hanns Lochmüller, Jacqueline Palace, Francesco Muntoni, and David Beeson. 2015. ‘Mutations in Cause Congenital Myasthenic Syndrome and Bridge Myasthenic Disorders with Dystroglycanopathies’. Brain 138(9):2493–2504. doi: 10.1093/brain/awv185.
Benatar, Michael, Kevin Boylan, Andreas Jeromin, Seward B. Rutkove, James Berry, Nazem Atassi, and Lucie Bruijn. 2016. ‘ALS Biomarkers for Therapy Development: State of the Field and Future Directions’. Muscle & Nerve 53(2):169–82. doi: 10.1002/mus.24979.
Berlowitz, David J., Mark E. Howard, Julio F. Fiore, Stephen Vander Hoorn, Fergal J. O’Donoghue, Justine Westlake, Anna Smith, Fiona Beer, Susan Mathers, and Paul Talman. 2016. ‘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):280–86. doi: 10.1136/jnnp-2014-310055.
Birnkrant, David J., Katharine Bushby, Carla M. Bann, Benjamin A. Alman, Susan D. Apkon, Angela Blackwell, Laura E. Case, Linda Cripe, Stasia Hadjiyannakis, Aaron K. Olson, Daniel W. Sheehan, Julie Bolen, David R. Weber, and Leanne M. Ward. 2018. ‘Diagnosis and Management of Duchenne Muscular Dystrophy, Part 2: Respiratory, Cardiac, Bone Health, and Orthopaedic Management’. The Lancet Neurology 17(4):347–61. doi: 10.1016/S1474-4422(18)30025-5.
Birnkrant, David J., Katharine Bushby, Carla M. Bann, Susan D. Apkon, Angela Blackwell, David Brumbaugh, Laura E. Case, Paula R. Clemens, Stasia Hadjiyannakis, Shree Pandya, Natalie Street, Jean Tomezsko, Kathryn R. Wagner, Leanne M. Ward, and David R. Weber. 2018. ‘Diagnosis and Management of Duchenne Muscular Dystrophy, Part 1: Diagnosis, and Neuromuscular, Rehabilitation, Endocrine, and Gastrointestinal and Nutritional Management’. The Lancet Neurology 17(3):251–67. doi: 10.1016/S1474-4422(18)30024-3.
Birnkrant, David J., Katharine Bushby, Carla M. Bann, Susan D. Apkon, Angela Blackwell, Mary K. Colvin, Linda Cripe, Adrienne R. Herron, Annie Kennedy, Kathi Kinnett, James Naprawa, Garey Noritz, James Poysky, Natalie Street, Christina J. Trout, David R. Weber, and Leanne M. Ward. 2018. ‘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):445–55. doi: 10.1016/S1474-4422(18)30026-7.
Bonanomi, D., and S. L. Pfaff. 2010. ‘Motor Axon Pathfinding’. Cold Spring Harbor Perspectives in Biology 2(3):a001735–a001735. doi: 10.1101/cshperspect.a001735.
Brownstone, Robert M., and Tuan V. Bui. 2010. ‘Spinal Interneurons Providing Input to the Final Common Path during Locomotion’. Pp. 81–95 in Breathe, Walk and Chew: The Neural Challenge: Part I. Vol. 187. Elsevier.
Carrì, Maria Teresa, Nadia D’Ambrosi, and Mauro Cozzolino. 2017. ‘Pathways to Mitochondrial Dysfunction in ALS Pathogenesis’. Biochemical and Biophysical Research Communications 483(4):1187–93. doi: 10.1016/j.bbrc.2016.07.055.
Cortes, Constanza J., Shuo-Chien Ling, Ling T. Guo, Gene Hung, Taiji Tsunemi, Linda Ly, Seiya Tokunaga, Edith Lopez, Bryce L. Sopher, C. Frank Bennett, G. Diane Shelton, Don W. Cleveland, and Albert R. La Spada. 2014. ‘Muscle Expression of Mutant Androgen Receptor Accounts for Systemic and Motor Neuron Disease Phenotypes in Spinal and Bulbar Muscular Atrophy’. Neuron 82(2):295–307. doi: 10.1016/j.neuron.2014.03.001.
Couratier, P., P. Corcia, G. Lautrette, M. Nicol, P. M. Preux, and B. Marin. 2016. ‘Epidemiology of Amyotrophic Lateral Sclerosis: A Review of Literature’. Revue Neurologique 172(1):37–45. doi: 10.1016/j.neurol.2015.11.002.
Crisp, Sarah J., Dimitri M. Kullmann, and Angela Vincent. 2016a. ‘Autoimmune Synaptopathies’. Nature Reviews Neuroscience 17(2):103–17. doi: 10.1038/nrn.2015.27.
Crisp, Sarah J., Dimitri M. Kullmann, and Angela Vincent. 2016b. ‘Autoimmune Synaptopathies’. Nature Reviews Neuroscience 17(2):103–17. doi: 10.1038/nrn.2015.27.
Cruz, Pedro M. Rodríguez, Jacqueline Palace, and David Beeson. 2014. ‘Congenital Myasthenic Syndromes and the Neuromuscular Junction’. Current Opinion in Neurology 27(5):566–75. doi: 10.1097/WCO.0000000000000134.
Darabid, Houssam, Anna P. Perez-Gonzalez, and Richard Robitaille. 2014. ‘Neuromuscular Synaptogenesis: Coordinating Partners with Multiple Functions’. Nature Reviews Neuroscience 15(11):703–18. doi: 10.1038/nrn3821.
Dasen, Jeremy S., and Thomas M. Jessell. 2009. ‘Chapter Six Hox Networks and the Origins of Motor Neuron Diversity’. Pp. 169–200 in Hox Genes. Vol. 88. Elsevier.
Drory, Vivian E., Evgeny Goltsman, Jacqueline Goldman Reznik, Amnon Mosek, and Amos D. Korczyn. 2001. ‘The Value of Muscle Exercise in Patients with Amyotrophic Lateral Sclerosis’. Journal of the Neurological Sciences 191(1–2):133–37. doi: 10.1016/S0022-510X(01)00610-4.
Engel, Andrew G., Xin-Ming Shen, Duygu Selcen, and Steven M. Sine. 2015. ‘Congenital Myasthenic Syndromes: Pathogenesis, Diagnosis, and Treatment’. The Lancet Neurology 14(4):420–34. doi: 10.1016/S1474-4422(14)70201-7.
Finkel, Richard S., Eugenio Mercuri, Oscar H. Meyer, Anita K. Simonds, Mary K. Schroth, Robert J. Graham, Janbernd Kirschner, Susan T. Iannaccone, Thomas O. Crawford, Simon Woods, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S. Mazzone, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Ying Qian, and Thomas Sejersen. 2018. ‘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):197–207. doi: 10.1016/j.nmd.2017.11.004.
Fratta, P., N. Nirmalananthan, L. Masset, I. Skorupinska, T. Collins, A. Cortese, S. Pemble, A. Malaspina, E. M. C. Fisher, L. Greensmith, and M. G. Hanna. 2014. ‘Correlation of Clinical and Molecular Features in Spinal Bulbar Muscular Atrophy’. Neurology 82(23):2077–84. doi: 10.1212/WNL.0000000000000507.
Fuller, Geraint, and Mark Manford. 2010. Neurology: An Illustrated Colour Text. 3rd ed. Edinburgh: Churchill Livingstone Elsevier.
Gendron, Tania F., Jeannie Chew, Jeannette N. Stankowski, Lindsey R. Hayes, Yong-Jie Zhang, Mercedes Prudencio, Yari Carlomagno, Lillian M. Daughrity, Karen Jansen-West, Emilie A. Perkerson, Aliesha O’Raw, Casey Cook, Luc Pregent, Veronique Belzil, Marka van Blitterswijk, Lilia J. Tabassian, Chris W. Lee, Mei Yue, Jimei Tong, Yuping Song, Monica Castanedes-Casey, Linda Rousseau, Virginia Phillips, Dennis W. Dickson, Rosa Rademakers, John D. Fryer, Beth K. Rush, Otto Pedraza, Ana M. Caputo, Pamela Desaro, Carla Palmucci, Amelia Robertson, Michael G. Heckman, Nancy N. Diehl, Edythe Wiggs, Michael Tierney, Laura Braun, Jennifer Farren, David Lacomis, Shafeeq Ladha, Christina N. Fournier, Leo F. McCluskey, Lauren B. Elman, Jon B. Toledo, Jennifer D. McBride, Cinzia Tiloca, Claudia Morelli, Barbara Poletti, Federica Solca, and Alessandro Prelle. 2017. ‘Poly(GP) Proteins Are a Useful Pharmacodynamic Marker for -Associated Amyotrophic Lateral Sclerosis’. Science Translational Medicine 9(383). doi: 10.1126/scitranslmed.aai7866.
Gibson, Summer, and Verena Haringer. 2015. ‘Amyotrophic Lateral Sclerosis: Clinical Perspectives’. Orphan Drugs: Research and Reviews. doi: 10.2147/ODRR.S63585.
Gilhus, Nils E. 2016. ‘Myasthenia Gravis’. New England Journal of Medicine 375(26):2570–81. doi: 10.1056/NEJMra1602678.
Gordon, Elizabeth, Jonathan D. Rohrer, and Nick C. Fox. 2016. ‘Advances in Neuroimaging in Frontotemporal Dementia’. Journal of Neurochemistry 138:193–210. doi: 10.1111/jnc.13656.
Harland, Richard. 2000. ‘Neural Induction’. Current Opinion in Genetics & Development 10(4):357–62. doi: 10.1016/S0959-437X(00)00096-4.
Harwood, Ceryl A., Christopher J. McDermott, and Pamela J. Shaw. 2012. ‘Clinical Aspects of Motor Neurone Disease’. Medicine 40(10):540–45. doi: 10.1016/j.mpmed.2012.07.003.
Hughes, JP, S. Rees, SB Kalindjian, and KL Philpott. 2011. ‘Principles of Early Drug Discovery’. British Journal of Pharmacology 162(6):1239–49. doi: 10.1111/j.1476-5381.2010.01127.x.
Jacobson, Leslie, Agata Polizzi, Gillian Morriss-Kay, and Angela Vincent. 1999. ‘Plasma from Human Mothers of Fetuses with Severe Arthrogryposis Multiplex Congenita Causes Deformities in Mice’. Journal of Clinical Investigation 103(7):1031–38. doi: 10.1172/JCI5943.
Jessell, Thomas M. 2000. ‘Neuronal Specification in the Spinal Cord: Inductive Signals and Transcriptional Codes’. Nature Reviews Genetics 1(1):20–29. doi: 10.1038/35049541.
Jones, Ross A., Carl Harrison, Samantha L. Eaton, Maica Llavero Hurtado, Laura C. Graham, Leena Alkhammash, Oladayo A. Oladiran, Andy Gale, Douglas J. Lamont, Hamish Simpson, Martin W. Simmen, Christian Soeller, Thomas M. Wishart, and Thomas H. Gillingwater. 2017. ‘Cellular and Molecular Anatomy of the Human Neuromuscular Junction’. Cell Reports 21(9):2348–56. doi: 10.1016/j.celrep.2017.11.008.
Kanning, Kevin C., Artem Kaplan, and Christopher E. Henderson. 2010. ‘Motor Neuron Diversity in Development and Disease’. Annual Review of Neuroscience 33(1):409–40. doi: 10.1146/annurev.neuro.051508.135722.
Koneczny, Inga, Judith Cossins, and Angela Vincent. 2014. ‘The Role of Muscle-Specific Tyrosine Kinase (MuSK) and Mystery of MuSK Myasthenia Gravis’. Journal of Anatomy 224(1):29–35. doi: 10.1111/joa.12034.
Koneczny, Inga, Judith Cossins, Patrick Waters, David Beeson, and Angela Vincent. 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). doi: 10.1371/journal.pone.0080695.
Kusner, Linda L., and Henry J. Kaminski. 2015. ‘Myasthenia Gravis’. Pp. 135–50 in Neurobiology of Brain Disorders. Elsevier.
Ladle, David R., Eline Pecho-Vrieseling, and Silvia Arber. 2007. ‘Assembly of Motor Circuits in the Spinal Cord: Driven to Function by Genetic and Experience-Dependent Mechanisms’. Neuron 56(2):270–83. doi: 10.1016/j.neuron.2007.09.026.
Laurá, Matilde, Dishan Singh, Gita Ramdharry, Jasper Morrow, Mariola Skorupinska, Davide Pareyson, Joshua Burns, Richard A. Lewis, Steven S. Scherer, David N. Herrmann, Nicholas Cullen, Christopher Bradish, Luca Gaiani, Nicolò Martinelli, Paul Gibbons, Glenn Pfeffer, Phinit Phisitkul, Keith Wapner, James Sanders, Sam Flemister, Michael E. Shy, and Mary M. Reilly. 2018. ‘Prevalence and Orthopedic Management of Foot and Ankle Deformities in Charcot-Marie-Tooth Disease’. Muscle & Nerve 57(2):255–59. doi: 10.1002/mus.25724.
Leung, Doris G. 2017. Other Proven and Putative Autoimmune Disorders of the Peripheral Nervous System. Vol. 1. Oxford University Press.
Li, Lei, Wen-Cheng Xiong, and Lin Mei. 2018. ‘Neuromuscular Junction Formation, Aging, and Disorders’. Annual Review of Physiology 80(1):159–88. doi: 10.1146/annurev-physiol-022516-034255.
Lieberman, Andrew P., Zhigang Yu, Sue Murray, Raechel Peralta, Audrey Low, Shuling Guo, Xing Xian Yu, Constanza J. Cortes, C. Frank Bennett, Brett P. Monia, Albert R. La Spada, and Gene Hung. 2014. ‘Peripheral Androgen Receptor Gene Suppression Rescues Disease in Mouse Models of Spinal and Bulbar Muscular Atrophy’. Cell Reports 7(3):774–84. doi: 10.1016/j.celrep.2014.02.008.
Lin, G., D. Mao, and H. J. Bellen. 2017. ‘Amyotrophic Lateral Sclerosis Pathogenesis Converges on Defects in Protein Homeostasis Associated with TDP-43 Mislocalization and Proteasome-Mediated Degradation Overload’. Pp. 111–71 in Fly Models of Human Diseases. Vol. 121. Elsevier.
Lu, C. H., C. Macdonald-Wallis, E. Gray, N. Pearce, A. Petzold, N. Norgren, G. Giovannoni, P. Fratta, K. Sidle, M. Fish, R. Orrell, R. Howard, K. Talbot, L. Greensmith, J. Kuhle, M. R. Turner, and A. Malaspina. 2015. ‘Neurofilament Light Chain: A Prognostic Biomarker in Amyotrophic Lateral Sclerosis’. Neurology 84(22):2247–57. doi: 10.1212/WNL.0000000000001642.
Malik, B., N. Nirmalananthan, L. G. Bilsland, A. R. La Spada, M. G. Hanna, G. Schiavo, J. M. Gallo, and L. Greensmith. 2011. ‘Absence of Disturbed Axonal Transport in Spinal and Bulbar Muscular Atrophy’. Human Molecular Genetics 20(9):1776–86. doi: 10.1093/hmg/ddr061.
Malik, Bilal, Niranjanan Nirmalananthan, Anna L. Gray, Albert R. La Spada, Michael G. Hanna, and Linda Greensmith. 2013. ‘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):926–43. doi: 10.1093/brain/aws343.
Manzano, Raquel, Gianni Sorarú, Christopher Grunseich, Pietro Fratta, Emanuela Zuccaro, Maria Pennuto, and Carlo Rinaldi. 2018. ‘Beyond Motor Neurons: Expanding the Clinical Spectrum in Kennedy’s Disease’. Journal of Neurology, Neurosurgery & Psychiatry 89(8):808–12. doi: 10.1136/jnnp-2017-316961.
Maragakis, Nicholas J. 2017. ‘What Can We Learn from the Edaravone Development Program for ALS?’ Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 18(sup1):98–103. doi: 10.1080/21678421.2017.1361446.
Mazzone, Elena S., Anna Mayhew, Jacqueline Montes, Danielle Ramsey, Lavinia Fanelli, Sally Dunaway Young, Rachel Salazar, Roberto De Sanctis, Amy Pasternak, Allan Glanzman, Giorgia Coratti, Matthew Civitello, Nicola Forcina, Richard Gee, Tina Duong, Marika Pane, Mariacristina Scoto, Maria Carmela Pera, Sonia Messina, Gihan Tennekoon, John W. Day, Basil T. Darras, Darryl C. De Vivo, Richard Finkel, Francesco Muntoni, and Eugenio Mercuri. 2017. ‘Revised Upper Limb Module for Spinal Muscular Atrophy: Development of a New Module’. Muscle & Nerve 55(6):869–74. doi: 10.1002/mus.25430.
Mercuri, Eugenio, Richard S. Finkel, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S. Mazzone, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Oscar H. Meyer, Anita K. Simonds, Mary K. Schroth, Robert J. Graham, Janbernd Kirschner, Susan T. Iannaccone, Thomas O. Crawford, Simon Woods, Ying Qian, Thomas Sejersen, Francesco Muntoni, Brunhilde Wirth, Francesco Danilo Tiziano, Janbernd Kirschner, Eduardo Tizzano, Haluk Topaloglu, Kathy Swoboda, Nigel Laing, Saito Kayoko, Thomas Prior, Wendy K. Chung, Shou-Mei Wu, Jacqueline Montes, Elena Mazzone, Marion Main, Caron Coleman, Richard Gee, Allan Glanzman, Anna-Karin Kroksmark, Kristin Krosschell, Leslie Nelson, Kristy Rose, Agnieszka Stępień, Carole Vuillerot, Michael Vitale, Brian Snyder, Susana Quijano-Roy, and Jean Dubousset. 2018. ‘Diagnosis and Management of Spinal Muscular Atrophy: Part 1: Recommendations for Diagnosis, Rehabilitation, Orthopedic and Nutritional Care’. Neuromuscular Disorders 28(2):103–15. doi: 10.1016/j.nmd.2017.11.005.
Meriggioli, Matthew N., and Donald B. Sanders. 2009. ‘Autoimmune Myasthenia Gravis: Emerging Clinical and Biological Heterogeneity’. The Lancet Neurology 8(5):475–90. doi: 10.1016/S1474-4422(09)70063-8.
Milioto, Carmelo, Adriana Malena, Eleonora Maino, Maria J. Polanco, Caterina Marchioretti, Doriana Borgia, Marcelo Gomes Pereira, Bert Blaauw, Andrew P. Lieberman, Roberta Venturini, Mario Plebani, Fabio Sambataro, Lodovica Vergani, Elena Pegoraro, Gianni Sorarù, and Maria Pennuto. 2017. ‘Beta-Agonist Stimulation Ameliorates the Phenotype of Spinal and Bulbar Muscular Atrophy Mice and Patient-Derived Myotubes’. Scientific Reports 7(1). doi: 10.1038/srep41046.
Mitsumoto, Hiroshi, Benjamin R. Brooks, and Vincenzo Silani. 2014. ‘Clinical Trials in Amyotrophic Lateral Sclerosis: Why so Many Negative Trials and How Can Trials Be Improved?’ The Lancet Neurology 13(11):1127–38. doi: 10.1016/S1474-4422(14)70129-2.
Monahan, Zachary, Frank Shewmaker, and Udai Bhan Pandey. 2016. ‘Stress Granules at the Intersection of Autophagy and ALS’. Brain Research 1649:189–200. doi: 10.1016/j.brainres.2016.05.022.
Morgan, Sarah, and Richard W. Orrell. 2016. ‘Pathogenesis of Amyotrophic Lateral Sclerosis’. British Medical Bulletin 119(1):87–98. doi: 10.1093/bmb/ldw026.
Morren, John A., and Nestor Galvez-Jimenez. 2012. ‘Current and Prospective Disease-Modifying Therapies for Amyotrophic Lateral Sclerosis’. Expert Opinion on Investigational Drugs 21(3):297–320. doi: 10.1517/13543784.2012.657303.
Nishimune, Hiroshi, Gregorio Valdez, George Jarad, Casey L. Moulson, Ulrich Müller, Jeffrey H. Miner, and Joshua R. Sanes. 2008. ‘Laminins Promote Postsynaptic Maturation by an Autocrine Mechanism at the Neuromuscular Junction’. The Journal of Cell Biology 182(6):1201–15. doi: 10.1083/jcb.200805095.
O’Connor, Emily, Ana Töpf, René P. Zahedi, Sally Spendiff, Daniel Cox, Andreas Roos, and Hanns Lochmüller. 2018. ‘Clinical and Research Strategies for Limb-Girdle Congenital Myasthenic Syndromes’. Annals of the New York Academy of Sciences 1412(1):102–12. doi: 10.1111/nyas.13520.
Orrell, Richard WBarclay, Chris. n.d. ‘Diagnosis and Management of Motor Neurone Disease’. Practitioner 260:17–21.
Otto, Markus, Robert Bowser, Martin Turner, James Berry, Johannes Brettschneider, James Connor, Júlia Costa, Merit Cudkowicz, Jonathan Glass, Olaf Jahn, Stefan Lehnert, Andrea Malaspina, Lucilla Parnetti, Axel Petzold, Pamela Shaw, Alexander Sherman, Petra Steinacker, Sigurd Süßmuth, Charlotte Teunissen, Hayrettin Tumani, Anna Wuolikainen, and Albert Ludolph. 2012. ‘Roadmap and Standard Operating Procedures for Biobanking and Discovery of Neurochemical Markers in ALS’. Amyotrophic Lateral Sclerosis 13(1):1–10. doi: 10.3109/17482968.2011.627589.
Peragallo, Jason H. 2017. ‘Pediatric Myasthenia Gravis’. Seminars in Pediatric Neurology 24(2):116–21. doi: 10.1016/j.spen.2017.04.003.
Ramdharry, Gita M., Alexander Pollard, Cheryl Anderson, Matilde Laurá, Sinead M. Murphy, Magdalena Dudziec, Elizabeth L. Dewar, Elspeth Hutton, Robert Grant, and Mary M. Reilly. 2014. ‘A Pilot Study of Proximal Strength Training in Charcot-Marie-Tooth Disease’. Journal of the Peripheral Nervous System 19(4):328–32. doi: 10.1111/jns.12100.
Ramsey, Danielle, Mariacristina Scoto, Anna Mayhew, Marion Main, Elena S. Mazzone, Jacqueline Montes, Roberto de Sanctis, Sally Dunaway Young, Rachel Salazar, Allan M. Glanzman, Amy Pasternak, Janet Quigley, Elizabeth Mirek, Tina Duong, Richard Gee, Matthew Civitello, Gihan Tennekoon, Marika Pane, Maria Carmela Pera, Kate Bushby, John Day, Basil T. Darras, Darryl De Vivo, Richard Finkel, Eugenio Mercuri, and Francesco Muntoni. 2017. ‘Revised Hammersmith Scale for Spinal Muscular Atrophy: A SMA Specific Clinical Outcome Assessment Tool’. PLOS ONE 12(2). doi: 10.1371/journal.pone.0172346.
Reilly, Mary M., Davide Pareyson, Joshua Burns, Matilde Laurá, Michael E. Shy, Dishan Singh, Per Henrik Agren, Viola Altmann, Jonathan Baets, Peter Briggs, Joshua Burns, Karen Butcher, Luca Gaiani, Filippo Genovese, Paul Gibbons, Matilde Laurá, Jan Willem Louwerens, Adnan Manzur, Isabella Moroni, Nicolò Martinelli, Davide Pareyson, Glenn Pfeffer, Gita Ramdharry, Mary M. Reilly, Michael Shy, Dishan Singh, Marco van der Linden, and Wolfram Wenz. 2017. ‘221st ENMC International Workshop’: Neuromuscular Disorders 27(12):1138–42. doi: 10.1016/j.nmd.2017.09.005.
Renton, Alan E., Adriano Chiò, and Bryan J. Traynor. 2014. ‘State of Play in Amyotrophic Lateral Sclerosis Genetics’. Nature Neuroscience 17(1):17–23. doi: 10.1038/nn.3584.
Rodríguez Cruz, Pedro M., Jacqueline Palace, and David Beeson. 2014. ‘Inherited Disorders of the Neuromuscular Junction: An Update’. Journal of Neurology 261(11):2234–43. doi: 10.1007/s00415-014-7520-7.
Rodríguez Cruz, Pedro M., Caroline Sewry, David Beeson, Sandeep Jayawant, Waney Squier, Robert McWilliam, and Jacqueline Palace. 2014. ‘Congenital Myopathies with Secondary Neuromuscular Transmission Defects; A Case Report and Review of the Literature’. Neuromuscular Disorders 24(12):1103–10. doi: 10.1016/j.nmd.2014.07.005.
Rudolf, Rüdiger, Muzamil Majid Khan, Siegfried Labeit, and Michael R. Deschenes. 2014. ‘Degeneration of Neuromuscular Junction in Age and Dystrophy’. Frontiers in Aging Neuroscience 6. doi: 10.3389/fnagi.2014.00099.
Ruegsegger, Céline, and Smita Saxena. 2016. ‘Proteostasis Impairment in ALS’. Brain Research 1648:571–79. doi: 10.1016/j.brainres.2016.03.032.
Scoto, M., R. S. Finkel, E. Mercuri, and F. Muntoni. 2017. ‘Therapeutic Approaches for Spinal Muscular Atrophy (SMA)’. Gene Therapy 24(9):514–19. doi: 10.1038/gt.2017.45.
Singhal, Neha, and Paul T. Martin. 2011. ‘Role of Extracellular Matrix Proteins and Their Receptors in the Development of the Vertebrate Neuromuscular Junction’. Developmental Neurobiology 71(11):982–1005. doi: 10.1002/dneu.20953.
Spillane, J., D. J. Beeson, and D. M. Kullmann. 2010. ‘Myasthenia and Related Disorders of the Neuromuscular Junction’. Journal of Neurology, Neurosurgery & Psychiatry 81(8):850–57. doi: 10.1136/jnnp.2008.169367.
Spillane, J., Y. Ermolyuk, M. Cano-Jaimez, B. Lang, A. Vincent, K. E. Volynski, and D. M. Kullmann. 2015. ‘Lambert-Eaton Syndrome IgG Inhibits Transmitter Release via P/Q Ca2+ Channels’. Neurology 84(6):575–79. doi: 10.1212/WNL.0000000000001225.
Viegas, Stuart, Leslie Jacobson, Patrick Waters, Judith Cossins, Saiju Jacob, M. Isabel Leite, Richard Webster, and Angela Vincent. 2012. ‘Passive and Active Immunization Models of MuSK-Ab Positive Myasthenia: Electrophysiological Evidence for Pre and Postsynaptic Defects’. Experimental Neurology 234(2):506–12. doi: 10.1016/j.expneurol.2012.01.025.
Vincent, Angela. 2002. ‘Unravelling the Pathogenesis of Myasthenia Gravis’. Nature Reviews Immunology 2(10):797–804. doi: 10.1038/nri916.
Westerberg, Elisabet, Carl Johan Molin, Sören Spörndly Nees, Johan Widenfalk, and Anna Rostedt Punga. 2018. ‘The Impact of Physical Exercise on Neuromuscular Function in Myasthenia Gravis Patients’. Medicine 97(31). doi: 10.1097/MD.0000000000011510.
Wolfe, Gil I., Henry J. Kaminski, Inmaculada B. Aban, Greg Minisman, Hui-Chien Kuo, Alexander Marx, Philipp Ströbel, Claudio Mazia, Joel Oger, J. Gabriel Cea, Jeannine M. Heckmann, Amelia Evoli, Wilfred Nix, Emma Ciafaloni, Giovanni Antonini, Rawiphan Witoonpanich, John O. King, Said R. Beydoun, Colin H. Chalk, Alexandru C. Barboi, Anthony A. Amato, Aziz I. Shaibani, Bashar Katirji, Bryan R. F. Lecky, Camilla Buckley, Angela Vincent, Elza Dias-Tosta, Hiroaki Yoshikawa, Márcia Waddington-Cruz, Michael T. Pulley, Michael H. Rivner, Anna Kostera-Pruszczyk, Robert M. Pascuzzi, Carlayne E. Jackson, Guillermo S. Garcia Ramos, Jan J. G. M. Verschuuren, Janice M. Massey, John T. Kissel, Lineu C. Werneck, Michael Benatar, Richard J. Barohn, Rup Tandan, Tahseen Mozaffar, Robin Conwit, Joanne Odenkirchen, Joshua R. Sonett, Alfred Jaretzki, John Newsom-Davis, and Gary R. Cutter. 2016. ‘Randomized Trial of Thymectomy in Myasthenia Gravis’. New England Journal of Medicine 375(6):511–22. doi: 10.1056/NEJMoa1602489.
Woollacott, Ione O. C., and Jonathan D. Rohrer. 2016. ‘The Clinical Spectrum of Sporadic and Familial Forms of Frontotemporal Dementia’. Journal of Neurochemistry 138:6–31. doi: 10.1111/jnc.13654.
