Al-Chalabi A, van den Berg LH and Veldink J, ‘Gene Discovery in Amyotrophic Lateral Sclerosis: Implications for Clinical Management’ (2017) 13 Nature Reviews Neurology 96
Andreasson U, Blennow K and Zetterberg H, ‘Update on Ultrasensitive Technologies to Facilitate Research on Blood Biomarkers for Central Nervous System Disorders’ (2016) 3 Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring 98
Badders NM and others, ‘Selective Modulation of the Androgen Receptor AF2 Domain Rescues Degeneration in Spinal Bulbar Muscular Atrophy’ (2018) 24 Nature Medicine 427
Beitel LK and others, ‘Mechanisms Mediating Spinal and Bulbar Muscular Atrophy: Investigations into Polyglutamine-Expanded Androgen Receptor Function and Dysfunction’ (2013) 4 Frontiers in Neurology
Belaya K and others, ‘Mutations in                              Cause Congenital Myasthenic Syndrome and Bridge Myasthenic Disorders with Dystroglycanopathies’ (2015) 138 Brain 2493
Benatar M and others, ‘ALS Biomarkers for Therapy Development: State of the Field and Future Directions’ (2016) 53 Muscle & Nerve 169
Berlowitz DJ and others, ‘Identifying Who Will Benefit from Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis/Motor Neurone Disease in a Clinical Cohort’ (2016) 87 Journal of Neurology, Neurosurgery & Psychiatry 280
Birnkrant DJ and others, ‘Diagnosis and Management of Duchenne Muscular Dystrophy, Part 1: Diagnosis, and Neuromuscular, Rehabilitation, Endocrine, and Gastrointestinal and Nutritional Management’ (2018) 17 The Lancet Neurology 251
——, ‘Diagnosis and Management of Duchenne Muscular Dystrophy, Part 2: Respiratory, Cardiac, Bone Health, and Orthopaedic Management’ (2018) 17 The Lancet Neurology 347
——, ‘Diagnosis and Management of Duchenne Muscular Dystrophy, Part 3: Primary Care, Emergency Management, Psychosocial Care, and Transitions of Care across the Lifespan’ (2018) 17 The Lancet Neurology 445
Bonanomi D and Pfaff SL, ‘Motor Axon Pathfinding’ (2010) 2 Cold Spring Harbor Perspectives in Biology a001735
Brownstone RM and Bui TV, ‘Spinal Interneurons Providing Input to the Final Common Path during Locomotion’, Breathe, Walk and Chew: The Neural Challenge: Part I, vol 187 (Elsevier 2010) <https://linkinghub.elsevier.com/retrieve/pii/B978044453613600006X>
Carrì MT, D’Ambrosi N and Cozzolino M, ‘Pathways to Mitochondrial Dysfunction in ALS Pathogenesis’ (2017) 483 Biochemical and Biophysical Research Communications 1187
Cortes CJ and others, ‘Muscle Expression of Mutant Androgen Receptor Accounts for Systemic and Motor Neuron Disease Phenotypes in Spinal and Bulbar Muscular Atrophy’ (2014) 82 Neuron 295
Couratier P and others, ‘Epidemiology of Amyotrophic Lateral Sclerosis: A Review of Literature’ (2016) 172 Revue Neurologique 37
Crisp SJ, Kullmann DM and Vincent A, ‘Autoimmune Synaptopathies’ (2016) 17 Nature Reviews Neuroscience 103
——, ‘Autoimmune Synaptopathies’ (2016) 17 Nature Reviews Neuroscience 103
Cruz PMR, Palace J and Beeson D, ‘Congenital Myasthenic Syndromes and the Neuromuscular Junction’ (2014) 27 Current Opinion in Neurology 566
Darabid H, Perez-Gonzalez AP and Robitaille R, ‘Neuromuscular Synaptogenesis: Coordinating Partners with Multiple Functions’ (2014) 15 Nature Reviews Neuroscience 703
Dasen JS and Jessell TM, ‘Chapter Six Hox Networks and the Origins of Motor Neuron Diversity’, Hox Genes, vol 88 (Elsevier 2009) <https://linkinghub.elsevier.com/retrieve/pii/S007021530988006X>
Drory VE and others, ‘The Value of Muscle Exercise in Patients with Amyotrophic Lateral Sclerosis’ (2001) 191 Journal of the Neurological Sciences 133
Engel AG and others, ‘Congenital Myasthenic Syndromes: Pathogenesis, Diagnosis, and Treatment’ (2015) 14 The Lancet Neurology 420
Finkel RS and others, ‘Diagnosis and Management of Spinal Muscular Atrophy: Part 2: Pulmonary and Acute Care; Medications, Supplements and Immunizations; Other Organ Systems; and Ethics’ (2018) 28 Neuromuscular Disorders 197
Fratta P and others, ‘Correlation of Clinical and Molecular Features in Spinal Bulbar Muscular Atrophy’ (2014) 82 Neurology 2077
Fuller G and Manford M, Neurology: An Illustrated Colour Text (3rd ed, Churchill Livingstone Elsevier 2010) <http://ucl.alma.exlibrisgroup.com/view/action/uresolver.do?operation=resolveService&package_service_id=3669595080004761&institutionId=4761&customerId=4760>
Gendron TF and others, ‘Poly(GP) Proteins Are a Useful Pharmacodynamic Marker for                              -Associated Amyotrophic Lateral Sclerosis’ (2017) 9 Science Translational Medicine
Gibson S and Haringer V, ‘Amyotrophic Lateral Sclerosis: Clinical Perspectives’ [2015] Orphan Drugs: Research and Reviews
Gilhus NE, ‘Myasthenia Gravis’ (2016) 375 New England Journal of Medicine 2570
Gordon E, Rohrer JD and Fox NC, ‘Advances in Neuroimaging in Frontotemporal Dementia’ (2016) 138 Journal of Neurochemistry 193
Harland R, ‘Neural Induction’ (2000) 10 Current Opinion in Genetics & Development 357
Harwood CA, McDermott CJ and Shaw PJ, ‘Clinical Aspects of Motor Neurone Disease’ (2012) 40 Medicine 540
Hughes J and others, ‘Principles of Early Drug Discovery’ (2011) 162 British Journal of Pharmacology 1239
Jacobson L and others, ‘Plasma from Human Mothers of Fetuses with Severe Arthrogryposis Multiplex Congenita Causes Deformities in Mice’ (1999) 103 Journal of Clinical Investigation 1031
Jessell TM, ‘Neuronal Specification in the Spinal Cord: Inductive Signals and Transcriptional Codes’ (2000) 1 Nature Reviews Genetics 20
Jones RA and others, ‘Cellular and Molecular Anatomy of the Human Neuromuscular Junction’ (2017) 21 Cell Reports 2348
Kanning KC, Kaplan A and Henderson CE, ‘Motor Neuron Diversity in Development and Disease’ (2010) 33 Annual Review of Neuroscience 409
Koneczny I and others, ‘MuSK Myasthenia Gravis IgG4 Disrupts the Interaction of LRP4 with MuSK but Both IgG4 and IgG1-3 Can Disperse Preformed Agrin-Independent AChR Clusters’ (2013) 8 PLoS ONE
Koneczny I, Cossins J and Vincent A, ‘The Role of Muscle-Specific Tyrosine Kinase (MuSK) and Mystery of MuSK Myasthenia Gravis’ (2014) 224 Journal of Anatomy 29
Kusner LL and Kaminski HJ, ‘Myasthenia Gravis’, Neurobiology of Brain Disorders (Elsevier 2015) <https://linkinghub.elsevier.com/retrieve/pii/B9780123982704000100>
Ladle DR, Pecho-Vrieseling E and Arber S, ‘Assembly of Motor Circuits in the Spinal Cord: Driven to Function by Genetic and Experience-Dependent Mechanisms’ (2007) 56 Neuron 270
Laurá M and others, ‘Prevalence and Orthopedic Management of Foot and Ankle Deformities in Charcot-Marie-Tooth Disease’ (2018) 57 Muscle & Nerve 255
Leung DG, Other Proven and Putative Autoimmune Disorders of the Peripheral Nervous System, vol 1 (Oxford University Press 2017) <http://oxfordmedicine.com/view/10.1093/med/9780199937837.001.0001/med-9780199937837-chapter-98>
Li L, Xiong W-C and Mei L, ‘Neuromuscular Junction Formation, Aging, and Disorders’ (2018) 80 Annual Review of Physiology 159
Lieberman AP and others, ‘Peripheral Androgen Receptor Gene Suppression Rescues Disease in Mouse Models of Spinal and Bulbar Muscular Atrophy’ (2014) 7 Cell Reports 774
Lin G, Mao D and Bellen HJ, ‘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) <https://linkinghub.elsevier.com/retrieve/pii/S0070215316301454>
Lu C-H and others, ‘Neurofilament Light Chain: A Prognostic Biomarker in Amyotrophic Lateral Sclerosis’ (2015) 84 Neurology 2247
Malik B and others, ‘Absence of Disturbed Axonal Transport in Spinal and Bulbar Muscular Atrophy’ (2011) 20 Human Molecular Genetics 1776
Malik B and others, ‘Co-Induction of the Heat Shock Response Ameliorates Disease Progression in a Mouse Model of Human Spinal and Bulbar Muscular Atrophy: Implications for Therapy’ (2013) 136 Brain 926
Manzano R and others, ‘Beyond Motor Neurons: Expanding the Clinical Spectrum in Kennedy’s Disease’ (2018) 89 Journal of Neurology, Neurosurgery & Psychiatry 808
Maragakis NJ, ‘What Can We Learn from the Edaravone Development Program for ALS?’ (2017) 18 Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 98
Mazzone ES and others, ‘Revised Upper Limb Module for Spinal Muscular Atrophy: Development of a New Module’ (2017) 55 Muscle & Nerve 869
Mercuri E and others, ‘Diagnosis and Management of Spinal Muscular Atrophy: Part 1: Recommendations for Diagnosis, Rehabilitation, Orthopedic and Nutritional Care’ (2018) 28 Neuromuscular Disorders 103
Meriggioli MN and Sanders DB, ‘Autoimmune Myasthenia Gravis: Emerging Clinical and Biological Heterogeneity’ (2009) 8 The Lancet Neurology 475
Milioto C and others, ‘Beta-Agonist Stimulation Ameliorates the Phenotype of Spinal and Bulbar Muscular Atrophy Mice and Patient-Derived Myotubes’ (2017) 7 Scientific Reports
Mitsumoto H, Brooks BR and Silani V, ‘Clinical Trials in Amyotrophic Lateral Sclerosis: Why so Many Negative Trials and How Can Trials Be Improved?’ (2014) 13 The Lancet Neurology 1127
Monahan Z, Shewmaker F and Pandey UB, ‘Stress Granules at the Intersection of Autophagy and ALS’ (2016) 1649 Brain Research 189
Morgan S and Orrell RW, ‘Pathogenesis of Amyotrophic Lateral Sclerosis’ (2016) 119 British Medical Bulletin 87
Morren JA and Galvez-Jimenez N, ‘Current and Prospective Disease-Modifying Therapies for Amyotrophic Lateral Sclerosis’ (2012) 21 Expert Opinion on Investigational Drugs 297
‘Motor Neurone Disease: Assessment and Management | Guidance and Guidelines | NICE’ <https://www.nice.org.uk/guidance/ng42>
Nishimune H and others, ‘Laminins Promote Postsynaptic Maturation by an Autocrine Mechanism at the Neuromuscular Junction’ (2008) 182 The Journal of Cell Biology 1201
O’Connor E and others, ‘Clinical and Research Strategies for Limb-Girdle Congenital Myasthenic Syndromes’ (2018) 1412 Annals of the New York Academy of Sciences 102
Orrell, Richard WBarclay, Chris, ‘Diagnosis and Management of Motor Neurone Disease’ 260 Practitioner 17 <https://search.proquest.com/docview/1844334383/64C39DCAF3D346C0PQ/1?accountid=14511>
Otto M and others, ‘Roadmap and Standard Operating Procedures for Biobanking and Discovery of Neurochemical Markers in ALS’ (2012) 13 Amyotrophic Lateral Sclerosis 1
Peragallo JH, ‘Pediatric Myasthenia Gravis’ (2017) 24 Seminars in Pediatric Neurology 116
Ramdharry GM and others, ‘A Pilot Study of Proximal Strength Training in Charcot-Marie-Tooth Disease’ (2014) 19 Journal of the Peripheral Nervous System 328
Ramsey D and others, ‘Revised Hammersmith Scale for Spinal Muscular Atrophy: A SMA Specific Clinical Outcome Assessment Tool’ (2017) 12 PLOS ONE
Reilly MM and others, ‘221st ENMC International Workshop’: (2017) 27 Neuromuscular Disorders 1138
Renton AE, Chiò A and Traynor BJ, ‘State of Play in Amyotrophic Lateral Sclerosis Genetics’ (2014) 17 Nature Neuroscience 17
Rodríguez Cruz PM and others, ‘Congenital Myopathies with Secondary Neuromuscular Transmission Defects; A Case Report and Review of the Literature’ (2014) 24 Neuromuscular Disorders 1103
Rodríguez Cruz PM, Palace J and Beeson D, ‘Inherited Disorders of the Neuromuscular Junction: An Update’ (2014) 261 Journal of Neurology 2234
Rudolf R and others, ‘Degeneration of Neuromuscular Junction in Age and Dystrophy’ (2014) 6 Frontiers in Aging Neuroscience
Ruegsegger C and Saxena S, ‘Proteostasis Impairment in ALS’ (2016) 1648 Brain Research 571
Scoto M and others, ‘Therapeutic Approaches for Spinal Muscular Atrophy (SMA)’ (2017) 24 Gene Therapy 514
Singhal N and Martin PT, ‘Role of Extracellular Matrix Proteins and Their Receptors in the Development of the Vertebrate Neuromuscular Junction’ (2011) 71 Developmental Neurobiology 982
Spillane J and others, ‘Lambert-Eaton Syndrome IgG Inhibits Transmitter Release via P/Q Ca2+ Channels’ (2015) 84 Neurology 575
Spillane J, Beeson DJ and Kullmann DM, ‘Myasthenia and Related Disorders of the Neuromuscular Junction’ (2010) 81 Journal of Neurology, Neurosurgery & Psychiatry 850
Viegas S and others, ‘Passive and Active Immunization Models of MuSK-Ab Positive Myasthenia: Electrophysiological Evidence for Pre and Postsynaptic Defects’ (2012) 234 Experimental Neurology 506
Vincent A, ‘Unravelling the Pathogenesis of Myasthenia Gravis’ (2002) 2 Nature Reviews Immunology 797
‘Volume 58, Issue 3, March 2016’ Volume 58, Issue 3, March 2016 <https://link.springer.com/journal/12031/58/3>
Westerberg E and others, ‘The Impact of Physical Exercise on Neuromuscular Function in Myasthenia Gravis Patients’ (2018) 97 Medicine
Wolfe GI and others, ‘Randomized Trial of Thymectomy in Myasthenia Gravis’ (2016) 375 New England Journal of Medicine 511
Woollacott IOC and Rohrer JD, ‘The Clinical Spectrum of Sporadic and Familial Forms of Frontotemporal Dementia’ (2016) 138 Journal of Neurochemistry 6