@article{Al-Chalabi_van den Berg_Veldink_2017, title={Gene discovery in amyotrophic lateral sclerosis: implications for clinical management}, volume={13}, DOI={10.1038/nrneurol.2016.182}, number={2}, journal={Nature Reviews Neurology}, author={Al-Chalabi, Ammar and van den Berg, Leonard H. and Veldink, Jan}, year={2017}, month={Feb}, pages={96–104} }
@article{Andreasson_Blennow_Zetterberg_2016, title={Update on ultrasensitive technologies to facilitate research on blood biomarkers for central nervous system disorders}, volume={3}, DOI={10.1016/j.dadm.2016.05.005}, journal={Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring}, author={Andreasson, Ulf and Blennow, Kaj and Zetterberg, Henrik}, year={2016}, pages={98–102} }
@article{Badders_Korff_Miranda_Vuppala_Smith_Winborn_Quemin_Sopher_Dearman_Messing_et al._2018, title={Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy}, volume={24}, DOI={10.1038/nm.4500}, number={4}, journal={Nature Medicine}, author={Badders, Nisha M and Korff, Ane and Miranda, Helen C and Vuppala, Pradeep K and Smith, Rebecca B and Winborn, Brett J and Quemin, Emmanuelle R and Sopher, Bryce L and Dearman, Jennifer and Messing, James and Kim, Nam Chul and Moore, Jennifer and Freibaum, Brian D and Kanagaraj, Anderson P and Fan, Baochang and Tillman, Heather and Chen, Ping-Chung and Wang, Yingzhe and III, Burgess B Freeman and Li, Yimei and Kim, Hong Joo and La Spada, Albert R and Taylor, J Paul}, year={2018}, month={Mar}, pages={427–437} }
@article{Beitel_Alvarado_Mokhtar_Paliouras_Trifiro_2013, title={Mechanisms Mediating Spinal and Bulbar Muscular Atrophy: Investigations into Polyglutamine-Expanded Androgen Receptor Function and Dysfunction}, volume={4}, DOI={10.3389/fneur.2013.00053}, journal={Frontiers in Neurology}, author={Beitel, Lenore K. and Alvarado, Carlos and Mokhtar, Shaza and Paliouras, Miltiadis and Trifiro, Mark}, year={2013} }
@article{Belaya_Rodríguez Cruz_Liu_Maxwell_McGowan_Farrugia_Petty_Walls_Sedghi_Basiri_et al._2015, title={Mutations in                              cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies}, volume={138}, DOI={10.1093/brain/awv185}, number={9}, journal={Brain}, author={Belaya, Katsiaryna and Rodríguez Cruz, Pedro M. and Liu, Wei Wei and Maxwell, Susan and McGowan, Simon and Farrugia, Maria E. and Petty, Richard and Walls, Timothy J. and Sedghi, Maryam and Basiri, Keivan and Yue, Wyatt W. and Sarkozy, Anna and Bertoli, Marta and Pitt, Matthew and Kennett, Robin and Schaefer, Andrew and Bushby, Kate and Parton, Matt and Lochmüller, Hanns and Palace, Jacqueline and Muntoni, Francesco and Beeson, David}, year={2015}, month={Sep}, pages={2493–2504} }
@article{Benatar_Boylan_Jeromin_Rutkove_Berry_Atassi_Bruijn_2016, title={ALS biomarkers for therapy development: State of the field and future directions}, volume={53}, DOI={10.1002/mus.24979}, number={2}, journal={Muscle & Nerve}, author={Benatar, Michael and Boylan, Kevin and Jeromin, Andreas and Rutkove, Seward B. and Berry, James and Atassi, Nazem and Bruijn, Lucie}, year={2016}, month={Feb}, pages={169–182} }
@article{Berlowitz_Howard_Fiore_Vander Hoorn_O’Donoghue_Westlake_Smith_Beer_Mathers_Talman_2016, title={Identifying who will benefit from non-invasive ventilation in amyotrophic lateral sclerosis/motor neurone disease in a clinical cohort}, volume={87}, DOI={10.1136/jnnp-2014-310055}, number={3}, journal={Journal of Neurology, Neurosurgery & Psychiatry}, author={Berlowitz, David J and Howard, Mark E and Fiore, Julio F and Vander Hoorn, Stephen and O’Donoghue, Fergal J and Westlake, Justine and Smith, Anna and Beer, Fiona and Mathers, Susan and Talman, Paul}, year={2016}, month={Mar}, pages={280–286} }
@article{Birnkrant_Bushby_Bann_Alman_Apkon_Blackwell_Case_Cripe_Hadjiyannakis_Olson_et al._2018, title={Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management}, volume={17}, DOI={10.1016/S1474-4422(18)30025-5}, number={4}, journal={The Lancet Neurology}, author={Birnkrant, David J and Bushby, Katharine and Bann, Carla M and Alman, Benjamin A and Apkon, Susan D and Blackwell, Angela and Case, Laura E and Cripe, Linda and Hadjiyannakis, Stasia and Olson, Aaron K and Sheehan, Daniel W and Bolen, Julie and Weber, David R and Ward, Leanne M}, year={2018}, month={Apr}, pages={347–361} }
@article{Birnkrant_Bushby_Bann_Apkon_Blackwell_Brumbaugh_Case_Clemens_Hadjiyannakis_Pandya_et al._2018, title={Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management}, volume={17}, DOI={10.1016/S1474-4422(18)30024-3}, number={3}, journal={The Lancet Neurology}, author={Birnkrant, David J and Bushby, Katharine and Bann, Carla M and Apkon, Susan D and Blackwell, Angela and Brumbaugh, David and Case, Laura E and Clemens, Paula R and Hadjiyannakis, Stasia and Pandya, Shree and Street, Natalie and Tomezsko, Jean and Wagner, Kathryn R and Ward, Leanne M and Weber, David R}, year={2018}, month={Mar}, pages={251–267} }
@article{Birnkrant_Bushby_Bann_Apkon_Blackwell_Colvin_Cripe_Herron_Kennedy_Kinnett_et al._2018, title={Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan}, volume={17}, DOI={10.1016/S1474-4422(18)30026-7}, number={5}, journal={The Lancet Neurology}, author={Birnkrant, David J and Bushby, Katharine and Bann, Carla M and Apkon, Susan D and Blackwell, Angela and Colvin, Mary K and Cripe, Linda and Herron, Adrienne R and Kennedy, Annie and Kinnett, Kathi and Naprawa, James and Noritz, Garey and Poysky, James and Street, Natalie and Trout, Christina J and Weber, David R and Ward, Leanne M}, year={2018}, month={May}, pages={445–455} }
@article{Bonanomi_Pfaff_2010, title={Motor Axon Pathfinding}, volume={2}, DOI={10.1101/cshperspect.a001735}, number={3}, journal={Cold Spring Harbor Perspectives in Biology}, author={Bonanomi, D. and Pfaff, S. L.}, year={2010}, month={Mar}, pages={a001735–a001735} }
@inbook{Brownstone_Bui_2010, title={Spinal interneurons providing input to the final common path during locomotion}, volume={187}, url={https://linkinghub.elsevier.com/retrieve/pii/B978044453613600006X}, DOI={10.1016/B978-0-444-53613-6.00006-X}, booktitle={Breathe, Walk and Chew: The Neural Challenge: Part I}, publisher={Elsevier}, author={Brownstone, Robert M. and Bui, Tuan V.}, year={2010}, pages={81–95} }
@article{Carrì_D’Ambrosi_Cozzolino_2017, title={Pathways to mitochondrial dysfunction in ALS pathogenesis}, volume={483}, DOI={10.1016/j.bbrc.2016.07.055}, number={4}, journal={Biochemical and Biophysical Research Communications}, author={Carrì, Maria Teresa and D’Ambrosi, Nadia and Cozzolino, Mauro}, year={2017}, month={Feb}, pages={1187–1193} }
@article{Cortes_Ling_Guo_Hung_Tsunemi_Ly_Tokunaga_Lopez_Sopher_Bennett_et al._2014, title={Muscle Expression of Mutant Androgen Receptor Accounts for Systemic and Motor Neuron Disease Phenotypes in Spinal and Bulbar Muscular Atrophy}, volume={82}, DOI={10.1016/j.neuron.2014.03.001}, number={2}, journal={Neuron}, author={Cortes, Constanza J. and Ling, Shuo-Chien and Guo, Ling T. and Hung, Gene and Tsunemi, Taiji and Ly, Linda and Tokunaga, Seiya and Lopez, Edith and Sopher, Bryce L. and Bennett, C. Frank and Shelton, G. Diane and Cleveland, Don W. and La Spada, Albert R.}, year={2014}, month={Apr}, pages={295–307} }
@article{Couratier_Corcia_Lautrette_Nicol_Preux_Marin_2016, title={Epidemiology of amyotrophic lateral sclerosis: A review of literature}, volume={172}, DOI={10.1016/j.neurol.2015.11.002}, number={1}, journal={Revue Neurologique}, author={Couratier, P. and Corcia, P. and Lautrette, G. and Nicol, M. and Preux, P.-M. and Marin, B.}, year={2016}, month={Jan}, pages={37–45} }
@article{Crisp_Kullmann_Vincent_2016a, title={Autoimmune synaptopathies}, volume={17}, DOI={10.1038/nrn.2015.27}, number={2}, journal={Nature Reviews Neuroscience}, author={Crisp, Sarah J. and Kullmann, Dimitri M. and Vincent, Angela}, year={2016}, month={Feb}, pages={103–117} }
@article{Crisp_Kullmann_Vincent_2016b, title={Autoimmune synaptopathies}, volume={17}, DOI={10.1038/nrn.2015.27}, number={2}, journal={Nature Reviews Neuroscience}, author={Crisp, Sarah J. and Kullmann, Dimitri M. and Vincent, Angela}, year={2016}, month={Feb}, pages={103–117} }
@article{Cruz_Palace_Beeson_2014, title={Congenital myasthenic syndromes and the neuromuscular junction}, volume={27}, DOI={10.1097/WCO.0000000000000134}, number={5}, journal={Current Opinion in Neurology}, author={Cruz, Pedro M. Rodríguez and Palace, Jacqueline and Beeson, David}, year={2014}, month={Oct}, pages={566–575} }
@article{Darabid_Perez-Gonzalez_Robitaille_2014, title={Neuromuscular synaptogenesis: coordinating partners with multiple functions}, volume={15}, DOI={10.1038/nrn3821}, number={11}, journal={Nature Reviews Neuroscience}, author={Darabid, Houssam and Perez-Gonzalez, Anna P. and Robitaille, Richard}, year={2014}, month={Nov}, pages={703–718} }
@inbook{Dasen_Jessell_2009, title={Chapter Six Hox Networks and the Origins of Motor Neuron Diversity}, volume={88}, url={https://linkinghub.elsevier.com/retrieve/pii/S007021530988006X}, DOI={10.1016/S0070-2153(09)88006-X}, booktitle={Hox Genes}, publisher={Elsevier}, author={Dasen, Jeremy S. and Jessell, Thomas M.}, year={2009}, pages={169–200} }
@article{Drory_Goltsman_Goldman Reznik_Mosek_Korczyn_2001, title={The value of muscle exercise in patients with amyotrophic lateral sclerosis}, volume={191}, DOI={10.1016/S0022-510X(01)00610-4}, number={1–2}, journal={Journal of the Neurological Sciences}, author={Drory, Vivian E. and Goltsman, Evgeny and Goldman Reznik, Jacqueline and Mosek, Amnon and Korczyn, Amos D.}, year={2001}, month={Oct}, pages={133–137} }
@article{Engel_Shen_Selcen_Sine_2015, title={Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment}, volume={14}, DOI={10.1016/S1474-4422(14)70201-7}, number={4}, journal={The Lancet Neurology}, author={Engel, Andrew G and Shen, Xin-Ming and Selcen, Duygu and Sine, Steven M}, year={2015}, month={Apr}, pages={420–434} }
@article{Finkel_Mercuri_Meyer_Simonds_Schroth_Graham_Kirschner_Iannaccone_Crawford_Woods_et al._2018, title={Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics}, volume={28}, DOI={10.1016/j.nmd.2017.11.004}, number={3}, journal={Neuromuscular Disorders}, author={Finkel, Richard S. and Mercuri, Eugenio and Meyer, Oscar H. and Simonds, Anita K. and Schroth, Mary K. and Graham, Robert J. and Kirschner, Janbernd and Iannaccone, Susan T. and Crawford, Thomas O. and Woods, Simon and Muntoni, Francesco and Wirth, Brunhilde and Montes, Jacqueline and Main, Marion and Mazzone, Elena S. and Vitale, Michael and Snyder, Brian and Quijano-Roy, Susana and Bertini, Enrico and Davis, Rebecca Hurst and Qian, Ying and Sejersen, Thomas}, year={2018}, month={Mar}, pages={197–207} }
@article{Fratta_Nirmalananthan_Masset_Skorupinska_Collins_Cortese_Pemble_Malaspina_Fisher_Greensmith_et al._2014, title={Correlation of clinical and molecular features in spinal bulbar muscular atrophy}, volume={82}, DOI={10.1212/WNL.0000000000000507}, number={23}, journal={Neurology}, author={Fratta, P. and Nirmalananthan, N. and Masset, L. and Skorupinska, I. and Collins, T. and Cortese, A. and Pemble, S. and Malaspina, A. and Fisher, E. M. C. and Greensmith, L. and Hanna, M. G.}, year={2014}, month={Jun}, pages={2077–2084} }
@book{Fuller_Manford_2010, address={Edinburgh}, edition={3rd ed}, title={Neurology: an illustrated colour text}, url={http://ucl.alma.exlibrisgroup.com/view/action/uresolver.do?operation=resolveService&package_service_id=3669595080004761&institutionId=4761&customerId=4760}, publisher={Churchill Livingstone Elsevier}, author={Fuller, Geraint and Manford, Mark}, year={2010} }
@article{Gendron_Chew_Stankowski_Hayes_Zhang_Prudencio_Carlomagno_Daughrity_Jansen-West_Perkerson_et al._2017, title={Poly(GP) proteins are a useful pharmacodynamic marker for                              -associated amyotrophic lateral sclerosis}, volume={9}, DOI={10.1126/scitranslmed.aai7866}, number={383}, journal={Science Translational Medicine}, author={Gendron, Tania F. and Chew, Jeannie and Stankowski, Jeannette N. and Hayes, Lindsey R. and Zhang, Yong-Jie and Prudencio, Mercedes and Carlomagno, Yari and Daughrity, Lillian M. and Jansen-West, Karen and Perkerson, Emilie A. and O’Raw, Aliesha and Cook, Casey and Pregent, Luc and Belzil, Veronique and van Blitterswijk, Marka and Tabassian, Lilia J. and Lee, Chris W. and Yue, Mei and Tong, Jimei and Song, Yuping and Castanedes-Casey, Monica and Rousseau, Linda and Phillips, Virginia and Dickson, Dennis W. and Rademakers, Rosa and Fryer, John D. and Rush, Beth K. and Pedraza, Otto and Caputo, Ana M. and Desaro, Pamela and Palmucci, Carla and Robertson, Amelia and Heckman, Michael G. and Diehl, Nancy N. and Wiggs, Edythe and Tierney, Michael and Braun, Laura and Farren, Jennifer and Lacomis, David and Ladha, Shafeeq and Fournier, Christina N. and McCluskey, Leo F. and Elman, Lauren B. and Toledo, Jon B. and McBride, Jennifer D. and Tiloca, Cinzia and Morelli, Claudia and Poletti, Barbara and Solca, Federica and Prelle, Alessandro}, year={2017}, month={Mar} }
@article{Gibson_Haringer_2015, title={Amyotrophic lateral sclerosis: clinical perspectives}, DOI={10.2147/ODRR.S63585}, journal={Orphan Drugs: Research and Reviews}, author={Gibson, Summer and Haringer, Verena}, year={2015}, month={Apr} }
@article{Gilhus_2016, title={Myasthenia Gravis}, volume={375}, DOI={10.1056/NEJMra1602678}, number={26}, journal={New England Journal of Medicine}, author={Gilhus, Nils E.}, year={2016}, month={Dec}, pages={2570–2581} }
@article{Gordon_Rohrer_Fox_2016, title={Advances in neuroimaging in frontotemporal dementia}, volume={138}, DOI={10.1111/jnc.13656}, journal={Journal of Neurochemistry}, author={Gordon, Elizabeth and Rohrer, Jonathan D. and Fox, Nick C.}, year={2016}, month={Aug}, pages={193–210} }
@article{Harland_2000, title={Neural induction}, volume={10}, DOI={10.1016/S0959-437X(00)00096-4}, number={4}, journal={Current Opinion in Genetics & Development}, author={Harland, Richard}, year={2000}, month={Aug}, pages={357–362} }
@article{Harwood_McDermott_Shaw_2012, title={Clinical aspects of motor neurone disease}, volume={40}, DOI={10.1016/j.mpmed.2012.07.003}, number={10}, journal={Medicine}, author={Harwood, Ceryl A. and McDermott, Christopher J. and Shaw, Pamela J.}, year={2012}, month={Oct}, pages={540–545} }
@article{Hughes_Rees_Kalindjian_Philpott_2011, title={Principles of early drug discovery}, volume={162}, DOI={10.1111/j.1476-5381.2010.01127.x}, number={6}, journal={British Journal of Pharmacology}, author={Hughes, JP and Rees, S and Kalindjian, SB and Philpott, KL}, year={2011}, month={Mar}, pages={1239–1249} }
@article{Jacobson_Polizzi_Morriss-Kay_Vincent_1999, title={Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice}, volume={103}, DOI={10.1172/JCI5943}, number={7}, journal={Journal of Clinical Investigation}, author={Jacobson, Leslie and Polizzi, Agata and Morriss-Kay, Gillian and Vincent, Angela}, year={1999}, month={Apr}, pages={1031–1038} }
@article{Jessell_2000, title={Neuronal specification in the spinal cord: inductive signals and transcriptional codes}, volume={1}, DOI={10.1038/35049541}, number={1}, journal={Nature Reviews Genetics}, author={Jessell, Thomas M.}, year={2000}, month={Oct}, pages={20–29} }
@article{Jones_Harrison_Eaton_Llavero Hurtado_Graham_Alkhammash_Oladiran_Gale_Lamont_Simpson_et al._2017, title={Cellular and Molecular Anatomy of the Human Neuromuscular Junction}, volume={21}, DOI={10.1016/j.celrep.2017.11.008}, number={9}, journal={Cell Reports}, author={Jones, Ross A. and Harrison, Carl and Eaton, Samantha L. and Llavero Hurtado, Maica and Graham, Laura C. and Alkhammash, Leena and Oladiran, Oladayo A. and Gale, Andy and Lamont, Douglas J. and Simpson, Hamish and Simmen, Martin W. and Soeller, Christian and Wishart, Thomas M. and Gillingwater, Thomas H.}, year={2017}, month={Nov}, pages={2348–2356} }
@article{Kanning_Kaplan_Henderson_2010, title={Motor Neuron Diversity in Development and Disease}, volume={33}, DOI={10.1146/annurev.neuro.051508.135722}, number={1}, journal={Annual Review of Neuroscience}, author={Kanning, Kevin C. and Kaplan, Artem and Henderson, Christopher E.}, year={2010}, month={Jun}, pages={409–440} }
@article{Koneczny_Cossins_Vincent_2014, title={The role of muscle-specific tyrosine kinase (MuSK) and mystery of MuSK myasthenia gravis}, volume={224}, DOI={10.1111/joa.12034}, number={1}, journal={Journal of Anatomy}, author={Koneczny, Inga and Cossins, Judith and Vincent, Angela}, year={2014}, month={Jan}, pages={29–35} }
@article{Koneczny_Cossins_Waters_Beeson_Vincent_2013, title={MuSK Myasthenia Gravis IgG4 Disrupts the Interaction of LRP4 with MuSK but Both IgG4 and IgG1-3 Can Disperse Preformed Agrin-Independent AChR Clusters}, volume={8}, DOI={10.1371/journal.pone.0080695}, number={11}, journal={PLoS ONE}, author={Koneczny, Inga and Cossins, Judith and Waters, Patrick and Beeson, David and Vincent, Angela}, year={2013}, month={Nov} }
@inbook{Kusner_Kaminski_2015, title={Myasthenia Gravis}, url={https://linkinghub.elsevier.com/retrieve/pii/B9780123982704000100}, DOI={10.1016/B978-0-12-398270-4.00010-0}, booktitle={Neurobiology of Brain Disorders}, publisher={Elsevier}, author={Kusner, Linda L. and Kaminski, Henry J.}, year={2015}, pages={135–150} }
@article{Ladle_Pecho-Vrieseling_Arber_2007, title={Assembly of Motor Circuits in the Spinal Cord: Driven to Function by Genetic and Experience-Dependent Mechanisms}, volume={56}, DOI={10.1016/j.neuron.2007.09.026}, number={2}, journal={Neuron}, author={Ladle, David R. and Pecho-Vrieseling, Eline and Arber, Silvia}, year={2007}, month={Oct}, pages={270–283} }
@article{Laurá_Singh_Ramdharry_Morrow_Skorupinska_Pareyson_Burns_Lewis_Scherer_Herrmann_et al._2018, title={Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease}, volume={57}, DOI={10.1002/mus.25724}, number={2}, journal={Muscle & Nerve}, author={Laurá, Matilde and Singh, Dishan and Ramdharry, Gita and Morrow, Jasper and Skorupinska, Mariola and Pareyson, Davide and Burns, Joshua and Lewis, Richard A. and Scherer, Steven S. and Herrmann, David N. and Cullen, Nicholas and Bradish, Christopher and Gaiani, Luca and Martinelli, Nicolò and Gibbons, Paul and Pfeffer, Glenn and Phisitkul, Phinit and Wapner, Keith and Sanders, James and Flemister, Sam and Shy, Michael E. and Reilly, Mary M.}, year={2018}, month={Feb}, pages={255–259} }
@book{Leung_2017, title={Other Proven and Putative Autoimmune Disorders of the Peripheral Nervous System}, volume={1}, url={http://oxfordmedicine.com/view/10.1093/med/9780199937837.001.0001/med-9780199937837-chapter-98}, DOI={10.1093/med/9780199937837.003.0098}, publisher={Oxford University Press}, author={Leung, Doris G.}, year={2017}, month={Mar} }
@article{Li_Xiong_Mei_2018, title={Neuromuscular Junction Formation, Aging, and Disorders}, volume={80}, DOI={10.1146/annurev-physiol-022516-034255}, number={1}, journal={Annual Review of Physiology}, author={Li, Lei and Xiong, Wen-Cheng and Mei, Lin}, year={2018}, month={Feb}, pages={159–188} }
@article{Lieberman_Yu_Murray_Peralta_Low_Guo_Yu_Cortes_Bennett_Monia_et al._2014, title={Peripheral Androgen Receptor Gene Suppression Rescues Disease in Mouse Models of Spinal and Bulbar Muscular Atrophy}, volume={7}, DOI={10.1016/j.celrep.2014.02.008}, number={3}, journal={Cell Reports}, author={Lieberman, Andrew P. and Yu, Zhigang and Murray, Sue and Peralta, Raechel and Low, Audrey and Guo, Shuling and Yu, Xing Xian and Cortes, Constanza J. and Bennett, C. Frank and Monia, Brett P. and La Spada, Albert R. and Hung, Gene}, year={2014}, month={May}, pages={774–784} }
@inbook{Lin_Mao_Bellen_2017, title={Amyotrophic Lateral Sclerosis Pathogenesis Converges on Defects in Protein Homeostasis Associated with TDP-43 Mislocalization and Proteasome-Mediated Degradation Overload}, volume={121}, url={https://linkinghub.elsevier.com/retrieve/pii/S0070215316301454}, DOI={10.1016/bs.ctdb.2016.07.004}, booktitle={Fly Models of Human Diseases}, publisher={Elsevier}, author={Lin, G. and Mao, D. and Bellen, H.J.}, year={2017}, pages={111–171} }
@article{Lu_Macdonald-Wallis_Gray_Pearce_Petzold_Norgren_Giovannoni_Fratta_Sidle_Fish_et al._2015, title={Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis}, volume={84}, DOI={10.1212/WNL.0000000000001642}, number={22}, journal={Neurology}, author={Lu, C.-H. and Macdonald-Wallis, C. and Gray, E. and Pearce, N. and Petzold, A. and Norgren, N. and Giovannoni, G. and Fratta, P. and Sidle, K. and Fish, M. and Orrell, R. and Howard, R. and Talbot, K. and Greensmith, L. and Kuhle, J. and Turner, M. R. and Malaspina, A.}, year={2015}, month={Jun}, pages={2247–2257} }
@article{Malik_Nirmalananthan_Bilsland_La Spada_Hanna_Schiavo_Gallo_Greensmith_2011, title={Absence of disturbed axonal transport in spinal and bulbar muscular atrophy}, volume={20}, DOI={10.1093/hmg/ddr061}, number={9}, journal={Human Molecular Genetics}, author={Malik, B. and Nirmalananthan, N. and Bilsland, L. G. and La Spada, A. R. and Hanna, M. G. and Schiavo, G. and Gallo, J.-M. and Greensmith, L.}, year={2011}, month={May}, pages={1776–1786} }
@article{Malik_Nirmalananthan_Gray_La Spada_Hanna_Greensmith_2013, title={Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy}, volume={136}, DOI={10.1093/brain/aws343}, number={3}, journal={Brain}, author={Malik, Bilal and Nirmalananthan, Niranjanan and Gray, Anna L. and La Spada, Albert R. and Hanna, Michael G. and Greensmith, Linda}, year={2013}, month={Mar}, pages={926–943} }
@article{Manzano_Sorarú_Grunseich_Fratta_Zuccaro_Pennuto_Rinaldi_2018, title={Beyond motor neurons: expanding the clinical spectrum in Kennedy’s disease}, volume={89}, DOI={10.1136/jnnp-2017-316961}, number={8}, journal={Journal of Neurology, Neurosurgery & Psychiatry}, author={Manzano, Raquel and Sorarú, Gianni and Grunseich, Christopher and Fratta, Pietro and Zuccaro, Emanuela and Pennuto, Maria and Rinaldi, Carlo}, year={2018}, month={Aug}, pages={808–812} }
@article{Maragakis_2017, title={What can we learn from the edaravone development program for ALS?}, volume={18}, DOI={10.1080/21678421.2017.1361446}, number={sup1}, journal={Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration}, author={Maragakis, Nicholas J.}, year={2017}, month={Oct}, pages={98–103} }
@article{Mazzone_Mayhew_Montes_Ramsey_Fanelli_Young_Salazar_De Sanctis_Pasternak_Glanzman_et al._2017, title={Revised upper limb module for spinal muscular atrophy: Development of a new module}, volume={55}, DOI={10.1002/mus.25430}, number={6}, journal={Muscle & Nerve}, author={Mazzone, Elena S. and Mayhew, Anna and Montes, Jacqueline and Ramsey, Danielle and Fanelli, Lavinia and Young, Sally Dunaway and Salazar, Rachel and De Sanctis, Roberto and Pasternak, Amy and Glanzman, Allan and Coratti, Giorgia and Civitello, Matthew and Forcina, Nicola and Gee, Richard and Duong, Tina and Pane, Marika and Scoto, Mariacristina and Pera, Maria Carmela and Messina, Sonia and Tennekoon, Gihan and Day, John W. and Darras, Basil T. and De Vivo, Darryl C. and Finkel, Richard and Muntoni, Francesco and Mercuri, Eugenio}, year={2017}, month={Jun}, pages={869–874} }
@article{Mercuri_Finkel_Muntoni_Wirth_Montes_Main_Mazzone_Vitale_Snyder_Quijano-Roy_et al._2018, title={Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care}, volume={28}, DOI={10.1016/j.nmd.2017.11.005}, number={2}, journal={Neuromuscular Disorders}, author={Mercuri, Eugenio and Finkel, Richard S. and Muntoni, Francesco and Wirth, Brunhilde and Montes, Jacqueline and Main, Marion and Mazzone, Elena S. and Vitale, Michael and Snyder, Brian and Quijano-Roy, Susana and Bertini, Enrico and Davis, Rebecca Hurst and Meyer, Oscar H. and Simonds, Anita K. and Schroth, Mary K. and Graham, Robert J. and Kirschner, Janbernd and Iannaccone, Susan T. and Crawford, Thomas O. and Woods, Simon and Qian, Ying and Sejersen, Thomas and Muntoni, Francesco and Wirth, Brunhilde and Tiziano, Francesco Danilo and Kirschner, Janbernd and Tizzano, Eduardo and Topaloglu, Haluk and Swoboda, Kathy and Laing, Nigel and Kayoko, Saito and Prior, Thomas and Chung, Wendy K. and Wu, Shou-Mei and Montes, Jacqueline and Mazzone, Elena and Main, Marion and Coleman, Caron and Gee, Richard and Glanzman, Allan and Kroksmark, Anna-Karin and Krosschell, Kristin and Nelson, Leslie and Rose, Kristy and Stępień, Agnieszka and Vuillerot, Carole and Vitale, Michael and Snyder, Brian and Quijano-Roy, Susana and Dubousset, Jean}, year={2018}, month={Feb}, pages={103–115} }
@article{Meriggioli_Sanders_2009, title={Autoimmune myasthenia gravis: emerging clinical and biological heterogeneity}, volume={8}, DOI={10.1016/S1474-4422(09)70063-8}, number={5}, journal={The Lancet Neurology}, author={Meriggioli, Matthew N and Sanders, Donald B}, year={2009}, month={May}, pages={475–490} }
@article{Milioto_Malena_Maino_Polanco_Marchioretti_Borgia_Pereira_Blaauw_Lieberman_Venturini_et al._2017, title={Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes}, volume={7}, DOI={10.1038/srep41046}, number={1}, journal={Scientific Reports}, author={Milioto, Carmelo and Malena, Adriana and Maino, Eleonora and Polanco, Maria J. and Marchioretti, Caterina and Borgia, Doriana and Pereira, Marcelo Gomes and Blaauw, Bert and Lieberman, Andrew P. and Venturini, Roberta and Plebani, Mario and Sambataro, Fabio and Vergani, Lodovica and Pegoraro, Elena and Sorarù, Gianni and Pennuto, Maria}, year={2017}, month={Dec} }
@article{Mitsumoto_Brooks_Silani_2014, title={Clinical trials in amyotrophic lateral sclerosis: why so many negative trials and how can trials be improved?}, volume={13}, DOI={10.1016/S1474-4422(14)70129-2}, number={11}, journal={The Lancet Neurology}, author={Mitsumoto, Hiroshi and Brooks, Benjamin R and Silani, Vincenzo}, year={2014}, month={Nov}, pages={1127–1138} }
@article{Monahan_Shewmaker_Pandey_2016, title={Stress granules at the intersection of autophagy and ALS}, volume={1649}, DOI={10.1016/j.brainres.2016.05.022}, journal={Brain Research}, author={Monahan, Zachary and Shewmaker, Frank and Pandey, Udai Bhan}, year={2016}, month={Oct}, pages={189–200} }
@article{Morgan_Orrell_2016, title={Pathogenesis of amyotrophic lateral sclerosis}, volume={119}, DOI={10.1093/bmb/ldw026}, number={1}, journal={British Medical Bulletin}, author={Morgan, Sarah and Orrell, Richard W.}, year={2016}, month={Sep}, pages={87–98} }
@article{Morren_Galvez-Jimenez_2012, title={Current and prospective disease-modifying therapies for amyotrophic lateral sclerosis}, volume={21}, DOI={10.1517/13543784.2012.657303}, number={3}, journal={Expert Opinion on Investigational Drugs}, author={Morren, John A and Galvez-Jimenez, Nestor}, year={2012}, month={Mar}, pages={297–320} }
@article{Nishimune_Valdez_Jarad_Moulson_Müller_Miner_Sanes_2008, title={Laminins promote postsynaptic maturation by an autocrine mechanism at the neuromuscular junction}, volume={182}, DOI={10.1083/jcb.200805095}, number={6}, journal={The Journal of Cell Biology}, author={Nishimune, Hiroshi and Valdez, Gregorio and Jarad, George and Moulson, Casey L. and Müller, Ulrich and Miner, Jeffrey H. and Sanes, Joshua R.}, year={2008}, month={Sep}, pages={1201–1215} }
@article{O’Connor_Töpf_Zahedi_Spendiff_Cox_Roos_Lochmüller_2018, title={Clinical and research strategies for limb-girdle congenital myasthenic syndromes}, volume={1412}, DOI={10.1111/nyas.13520}, number={1}, journal={Annals of the New York Academy of Sciences}, author={O’Connor, Emily and Töpf, Ana and Zahedi, René P. and Spendiff, Sally and Cox, Daniel and Roos, Andreas and Lochmüller, Hanns}, year={2018}, month={Jan}, pages={102–112} }
@article{Orrell, Richard WBarclay, Chris, title={Diagnosis and management of motor neurone disease}, volume={260}, url={https://search.proquest.com/docview/1844334383/64C39DCAF3D346C0PQ/1?accountid=14511}, journal={Practitioner}, author={Orrell, Richard WBarclay, Chris}, pages={17–21} }
@article{Otto_Bowser_Turner_Berry_Brettschneider_Connor_Costa_Cudkowicz_Glass_Jahn_et al._2012, title={Roadmap and standard operating procedures for biobanking and discovery of neurochemical markers in ALS}, volume={13}, DOI={10.3109/17482968.2011.627589}, number={1}, journal={Amyotrophic Lateral Sclerosis}, author={Otto, Markus and Bowser, Robert and Turner, Martin and Berry, James and Brettschneider, Johannes and Connor, James and Costa, Júlia and Cudkowicz, Merit and Glass, Jonathan and Jahn, Olaf and Lehnert, Stefan and Malaspina, Andrea and Parnetti, Lucilla and Petzold, Axel and Shaw, Pamela and Sherman, Alexander and Steinacker, Petra and Süßmuth, Sigurd and Teunissen, Charlotte and Tumani, Hayrettin and Wuolikainen, Anna and Ludolph, Albert}, year={2012}, month={Jan}, pages={1–10} }
@article{Peragallo_2017, title={Pediatric Myasthenia Gravis}, volume={24}, DOI={10.1016/j.spen.2017.04.003}, number={2}, journal={Seminars in Pediatric Neurology}, author={Peragallo, Jason H.}, year={2017}, month={May}, pages={116–121} }
@article{Ramdharry_Pollard_Anderson_Laurá_Murphy_Dudziec_Dewar_Hutton_Grant_Reilly_2014, title={A pilot study of proximal strength training in Charcot-Marie-Tooth disease}, volume={19}, DOI={10.1111/jns.12100}, number={4}, journal={Journal of the Peripheral Nervous System}, author={Ramdharry, Gita M. and Pollard, Alexander and Anderson, Cheryl and Laurá, Matilde and Murphy, Sinead M. and Dudziec, Magdalena and Dewar, Elizabeth L. and Hutton, Elspeth and Grant, Robert and Reilly, Mary M.}, year={2014}, month={Dec}, pages={328–332} }
@article{Ramsey_Scoto_Mayhew_Main_Mazzone_Montes_de Sanctis_Dunaway Young_Salazar_Glanzman_et al._2017, title={Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool}, volume={12}, DOI={10.1371/journal.pone.0172346}, number={2}, journal={PLOS ONE}, author={Ramsey, Danielle and Scoto, Mariacristina and Mayhew, Anna and Main, Marion and Mazzone, Elena S. and Montes, Jacqueline and de Sanctis, Roberto and Dunaway Young, Sally and Salazar, Rachel and Glanzman, Allan M. and Pasternak, Amy and Quigley, Janet and Mirek, Elizabeth and Duong, Tina and Gee, Richard and Civitello, Matthew and Tennekoon, Gihan and Pane, Marika and Pera, Maria Carmela and Bushby, Kate and Day, John and Darras, Basil T. and De Vivo, Darryl and Finkel, Richard and Mercuri, Eugenio and Muntoni, Francesco}, year={2017}, month={Feb} }
@article{Reilly_Pareyson_Burns_Laurá_Shy_Singh_Agren_Altmann_Baets_Briggs_et al._2017, title={221st ENMC International Workshop:}, volume={27}, DOI={10.1016/j.nmd.2017.09.005}, number={12}, journal={Neuromuscular Disorders}, author={Reilly, Mary M. and Pareyson, Davide and Burns, Joshua and Laurá, Matilde and Shy, Michael E. and Singh, Dishan and Agren, Per Henrik and Altmann, Viola and Baets, Jonathan and Briggs, Peter and Burns, Joshua and Butcher, Karen and Gaiani, Luca and Genovese, Filippo and Gibbons, Paul and Laurá, Matilde and Louwerens, Jan Willem and Manzur, Adnan and Moroni, Isabella and Martinelli, Nicolò and Pareyson, Davide and Pfeffer, Glenn and Ramdharry, Gita and Reilly, Mary M. and Shy, Michael and Singh, Dishan and van der Linden, Marco and Wenz, Wolfram}, year={2017}, month={Dec}, pages={1138–1142} }
@article{Renton_Chiò_Traynor_2014, title={State of play in amyotrophic lateral sclerosis genetics}, volume={17}, DOI={10.1038/nn.3584}, number={1}, journal={Nature Neuroscience}, author={Renton, Alan E and Chiò, Adriano and Traynor, Bryan J}, year={2014}, month={Jan}, pages={17–23} }
@article{Rodríguez Cruz_Palace_Beeson_2014, title={Inherited disorders of the neuromuscular junction: an update}, volume={261}, DOI={10.1007/s00415-014-7520-7}, number={11}, journal={Journal of Neurology}, author={Rodríguez Cruz, Pedro M. and Palace, Jacqueline and Beeson, David}, year={2014}, month={Nov}, pages={2234–2243} }
@article{Rodríguez Cruz_Sewry_Beeson_Jayawant_Squier_McWilliam_Palace_2014, title={Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature}, volume={24}, DOI={10.1016/j.nmd.2014.07.005}, number={12}, journal={Neuromuscular Disorders}, author={Rodríguez Cruz, Pedro M. and Sewry, Caroline and Beeson, David and Jayawant, Sandeep and Squier, Waney and McWilliam, Robert and Palace, Jacqueline}, year={2014}, month={Dec}, pages={1103–1110} }
@article{Rudolf_Khan_Labeit_Deschenes_2014, title={Degeneration of Neuromuscular Junction in Age and Dystrophy}, volume={6}, DOI={10.3389/fnagi.2014.00099}, journal={Frontiers in Aging Neuroscience}, author={Rudolf, Rüdiger and Khan, Muzamil Majid and Labeit, Siegfried and Deschenes, Michael R.}, year={2014}, month={May} }
@article{Ruegsegger_Saxena_2016, title={Proteostasis impairment in ALS}, volume={1648}, DOI={10.1016/j.brainres.2016.03.032}, journal={Brain Research}, author={Ruegsegger, Céline and Saxena, Smita}, year={2016}, month={Oct}, pages={571–579} }
@article{Scoto_Finkel_Mercuri_Muntoni_2017, title={Therapeutic approaches for spinal muscular atrophy (SMA)}, volume={24}, DOI={10.1038/gt.2017.45}, number={9}, journal={Gene Therapy}, author={Scoto, M and Finkel, R S and Mercuri, E and Muntoni, F}, year={2017}, month={Sep}, pages={514–519} }
@article{Singhal_Martin_2011, title={Role of extracellular matrix proteins and their receptors in the development of the vertebrate neuromuscular junction}, volume={71}, DOI={10.1002/dneu.20953}, number={11}, journal={Developmental Neurobiology}, author={Singhal, Neha and Martin, Paul T.}, year={2011}, month={Nov}, pages={982–1005} }
@article{Spillane_Beeson_Kullmann_2010, title={Myasthenia and related disorders of the neuromuscular junction}, volume={81}, DOI={10.1136/jnnp.2008.169367}, number={8}, journal={Journal of Neurology, Neurosurgery & Psychiatry}, author={Spillane, J. and Beeson, D. J. and Kullmann, D. M.}, year={2010}, month={Aug}, pages={850–857} }
@article{Spillane_Ermolyuk_Cano-Jaimez_Lang_Vincent_Volynski_Kullmann_2015, title={Lambert-Eaton syndrome IgG inhibits transmitter release via P/Q Ca2+ channels}, volume={84}, DOI={10.1212/WNL.0000000000001225}, number={6}, journal={Neurology}, author={Spillane, J. and Ermolyuk, Y. and Cano-Jaimez, M. and Lang, B. and Vincent, A. and Volynski, K. E. and Kullmann, D. M.}, year={2015}, month={Feb}, pages={575–579} }
@article{Viegas_Jacobson_Waters_Cossins_Jacob_Leite_Webster_Vincent_2012, title={Passive and active immunization models of MuSK-Ab positive myasthenia: Electrophysiological evidence for pre and postsynaptic defects}, volume={234}, DOI={10.1016/j.expneurol.2012.01.025}, number={2}, journal={Experimental Neurology}, author={Viegas, Stuart and Jacobson, Leslie and Waters, Patrick and Cossins, Judith and Jacob, Saiju and Leite, M. Isabel and Webster, Richard and Vincent, Angela}, year={2012}, month={Apr}, pages={506–512} }
@article{Vincent_2002, title={Unravelling the pathogenesis of myasthenia gravis}, volume={2}, DOI={10.1038/nri916}, number={10}, journal={Nature Reviews Immunology}, author={Vincent, Angela}, year={2002}, month={Oct}, pages={797–804} }
@article{Westerberg_Molin_Spörndly Nees_Widenfalk_Punga_2018, title={The impact of physical exercise on neuromuscular function in Myasthenia gravis patients}, volume={97}, DOI={10.1097/MD.0000000000011510}, number={31}, journal={Medicine}, author={Westerberg, Elisabet and Molin, Carl Johan and Spörndly Nees, Sören and Widenfalk, Johan and Punga, Anna Rostedt}, year={2018}, month={Aug} }
@article{Wolfe_Kaminski_Aban_Minisman_Kuo_Marx_Ströbel_Mazia_Oger_Cea_et al._2016, title={Randomized Trial of Thymectomy in Myasthenia Gravis}, volume={375}, DOI={10.1056/NEJMoa1602489}, number={6}, journal={New England Journal of Medicine}, author={Wolfe, Gil I. and Kaminski, Henry J. and Aban, Inmaculada B. and Minisman, Greg and Kuo, Hui-Chien and Marx, Alexander and Ströbel, Philipp and Mazia, Claudio and Oger, Joel and Cea, J. Gabriel and Heckmann, Jeannine M. and Evoli, Amelia and Nix, Wilfred and Ciafaloni, Emma and Antonini, Giovanni and Witoonpanich, Rawiphan and King, John O. and Beydoun, Said R. and Chalk, Colin H. and Barboi, Alexandru C. and Amato, Anthony A. and Shaibani, Aziz I. and Katirji, Bashar and Lecky, Bryan R.F. and Buckley, Camilla and Vincent, Angela and Dias-Tosta, Elza and Yoshikawa, Hiroaki and Waddington-Cruz, Márcia and Pulley, Michael T. and Rivner, Michael H. and Kostera-Pruszczyk, Anna and Pascuzzi, Robert M. and Jackson, Carlayne E. and Garcia Ramos, Guillermo S. and Verschuuren, Jan J.G.M. and Massey, Janice M. and Kissel, John T. and Werneck, Lineu C. and Benatar, Michael and Barohn, Richard J. and Tandan, Rup and Mozaffar, Tahseen and Conwit, Robin and Odenkirchen, Joanne and Sonett, Joshua R. and Jaretzki, Alfred and Newsom-Davis, John and Cutter, Gary R.}, year={2016}, month={Aug}, pages={511–522} }
@article{Woollacott_Rohrer_2016, title={The clinical spectrum of sporadic and familial forms of frontotemporal dementia}, volume={138}, DOI={10.1111/jnc.13654}, journal={Journal of Neurochemistry}, author={Woollacott, Ione O. C. and Rohrer, Jonathan D.}, year={2016}, month={Aug}, pages={6–31} }
@article{Motor neurone disease: assessment and management | Guidance and guidelines | NICE, url={https://www.nice.org.uk/guidance/ng42}, publisher={NICE} }
@article{Volume 58, Issue 3, March 2016, url={https://link.springer.com/journal/12031/58/3}, journal={Volume 58, Issue 3, March 2016} }