{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T22:17:36Z","timestamp":1792793856568,"version":"4.5.0"},"reference-count":68,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2018,9,20]],"date-time":"2018-09-20T00:00:00Z","timestamp":1537401600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Euan MacDonald Centre for Motor Neurone Disease Research","id":[{"id":"https:\/\/ror.org\/00pb3n413","id-type":"ROR","asserted-by":"crossref"}]},{"name":"SMA Europe"},{"name":"SMA Trust UK Consortium","id":[{"id":"https:\/\/ror.org\/038zhf168","id-type":"ROR","asserted-by":"crossref"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000268","name":"BBSRC","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"publisher"}]},{"name":"European Union\u2019s Horizon 2020 Research and Innovation","award":["739572"],"award-info":[{"award-number":["739572"]}],"id":[{"id":"https:\/\/ror.org\/001aqnf71","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Wellcome Trust Senior Investigator Award","award":["107116\/Z\/15\/Z"],"award-info":[{"award-number":["107116\/Z\/15\/Z"]}],"id":[{"id":"https:\/\/ror.org\/029chgv08","id-type":"ROR","asserted-by":"crossref"}]},{"name":"UK Dementia Research Institute Foundation","id":[{"id":"https:\/\/ror.org\/02wedp412","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,10,1]]},"DOI":"10.1093\/brain\/awy237","type":"journal-article","created":{"date-parts":[[2018,8,22]],"date-time":"2018-08-22T15:18:28Z","timestamp":1534951108000},"page":"2878-2894","source":"Crossref","is-referenced-by-count":43,"title":["UBA1\/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy"],"prefix":"10.1093","volume":"141","author":[{"given":"Hannah K","family":"Shorrock","sequence":"first","affiliation":[{"name":"Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK"},{"name":"Edinburgh Medical School: Biomedical Sciences, University of Edinburgh, Edinburgh, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dinja","family":"van der Hoorn","sequence":"additional","affiliation":[{"name":"Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK"},{"name":"Edinburgh Medical School: Biomedical Sciences, University of Edinburgh, Edinburgh, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penelope J","family":"Boyd","sequence":"additional","affiliation":[{"name":"Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK"},{"name":"Edinburgh Medical School: Biomedical Sciences, University of Edinburgh, Edinburgh, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maica","family":"Llavero Hurtado","sequence":"additional","affiliation":[{"name":"Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK"},{"name":"Roslin Institute, Royal (Dick) School of Veterinary Science, University of Edinburgh, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas J","family":"Lamont","sequence":"additional","affiliation":[{"name":"FingerPrints Proteomics Facility, University of Dundee, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brunhilde","family":"Wirth","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Center for Molecular Medicine Cologne, Institute for Genetics and Center for Rare Diseases Cologne, University of Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James N","family":"Sleigh","sequence":"additional","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giampietro","family":"Schiavo","sequence":"additional","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, UK"},{"name":"Discoveries Centre for Regenerative and Precision Medicine, University College London Campus, London, UK"},{"name":"UK Dementia Research Institute at UCL, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas M","family":"Wishart","sequence":"additional","affiliation":[{"name":"Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK"},{"name":"Roslin Institute, Royal (Dick) School of Veterinary Science, University of Edinburgh, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewout J N","family":"Groen","sequence":"additional","affiliation":[{"name":"Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK"},{"name":"Edinburgh Medical School: Biomedical Sciences, University of Edinburgh, Edinburgh, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas H","family":"Gillingwater","sequence":"additional","affiliation":[{"name":"Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK"},{"name":"Edinburgh Medical School: Biomedical Sciences, University of Edinburgh, Edinburgh, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2018,9,25]]},"reference":[{"key":"key\n\t\t\t\t20180927040305_awy237-B1","doi-asserted-by":"crossref","first-page":"e88427","DOI":"10.1172\/jci.insight.88427","article-title":"ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in mice","volume":"1","author":"Abera","year":"2016","journal-title":"JCI Insight"},{"key":"key\n\t\t\t\t20180927040305_awy237-B2","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1242\/dmm.002527","article-title":"An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy","volume":"2","author":"Achilli","year":"2009","journal-title":"Dis Model Mech"},{"key":"key\n\t\t\t\t20180927040305_awy237-B3","doi-asserted-by":"crossref","first-page":"4546","DOI":"10.1021\/pr500492j","article-title":"Label-free quantitative proteomic profiling identifies disruption of ubiquitin homeostasis as a key driver of Schwann cell defects in spinal muscular atrophy","volume":"13","author":"Aghamaleky Sarvestany","year":"2014","journal-title":"J Proteome Res"},{"key":"key\n\t\t\t\t20180927040305_awy237-B4","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1086\/375039","article-title":"Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V","volume":"72","author":"Antonellis","year":"2003","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180927040305_awy237-B5","doi-asserted-by":"crossref","first-page":"1636","DOI":"10.12688\/f1000research.11878.1","article-title":"Functional characterizations of rare UBA1 variants in X-linked spinal muscular atrophy","volume":"6","author":"Balak","year":"2017","journal-title":"F1000Res"},{"key":"key\n\t\t\t\t20180927040305_awy237-B6","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/BF00690973","article-title":"Pathological involvement of primary sensory neurons in Werdnig-Hoffmann disease","volume":"42","author":"Carpenter","year":"1978","journal-title":"Acta Neuropathol"},{"key":"key\n\t\t\t\t20180927040305_awy237-B7","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1016\/j.neuint.2004.04.005","article-title":"Degradation of Survival Motor Neuron (SMN) protein is mediated via the ubiquitin\/proteasome pathway","volume":"45","author":"Chang","year":"2004","journal-title":"Neurochem Int"},{"key":"key\n\t\t\t\t20180927040305_awy237-B8","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1038\/ncb2804","article-title":"Uba1 functions in Atg7- and Atg3-independent autophagy","volume":"15","author":"Chang","year":"2013","journal-title":"Nat Cell Biol"},{"key":"key\n\t\t\t\t20180927040305_awy237-B9","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1056\/NEJMoa1602812","article-title":"The role of PIEZO2 in human mechanosensation","volume":"375","author":"Chesler","year":"2016","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t20180927040305_awy237-B10","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1016\/j.ajhg.2014.10.002","article-title":"Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2","volume":"95","author":"Cottenie","year":"2014","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180927040305_awy237-B11","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1016\/j.ajhg.2016.09.019","article-title":"Biallelic loss of proprioception-related PIEZO2 causes muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis","volume":"99","author":"Delle Vedove","year":"2016","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180927040305_awy237-B12","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/j.nmd.2013.02.001","article-title":"Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene","volume":"23","author":"Dlamini","year":"2013","journal-title":"Neuromuscul Disord"},{"key":"key\n\t\t\t\t20180927040305_awy237-B13","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/mus.23722","article-title":"Sensorimotor polyneuropathy in patients with SMA type-1: electroneuromyographic findings","volume":"48","author":"Duman","year":"2013","journal-title":"Muscle Nerve"},{"key":"key\n\t\t\t\t20180927040305_awy237-B14","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.1093\/nar\/30.7.1575","article-title":"An efficient algorithm for large-scale detection of protein families","volume":"30","author":"Enright","year":"2002","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t20180927040305_awy237-B15","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1111\/j.1529-8027.2012.00370.x","article-title":"Infantile onset CMT2D\/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS","volume":"17","author":"Eskuri","year":"2012","journal-title":"J Peripher Nerv Syst"},{"key":"key\n\t\t\t\t20180927040305_awy237-B16","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1002\/ccr3.645","article-title":"Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient","volume":"4","author":"Fernandez","year":"2016","journal-title":"Clin Case Rep"},{"key":"key\n\t\t\t\t20180927040305_awy237-B17","unstructured":"Ferreira T , RasbandW. ImageJ user guide\u2014IJ 1.46r. 2012. Available from:https:\/\/imagej.nih.gov\/ij\/docs\/guide\/146\u201330.html."},{"key":"key\n\t\t\t\t20180927040305_awy237-B18","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1038\/nn.4561","article-title":"Reduced sensory synaptic excitation impairs motor neuron function via Kv2.1 in spinal muscular atrophy","volume":"20","author":"Fletcher","year":"2017","journal-title":"Nat Neurosci"},{"key":"key\n\t\t\t\t20180927040305_awy237-B19","first-page":"506","article-title":"Spinal muscular atrophy patient iPSC-Derived motor neurons have reduced expression of proteins important in neuronal development","volume":"9","author":"Fuller","year":"2015","journal-title":"Front Cell Neurosci"},{"key":"key\n\t\t\t\t20180927040305_awy237-B20","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1016\/j.molmed.2015.08.003","article-title":"UBA1: at the crossroads of ubiquitin homeostasis and neurodegeneration","volume":"21","author":"Groen","year":"2015","journal-title":"Trends Mol Med"},{"key":"key\n\t\t\t\t20180927040305_awy237-B21","doi-asserted-by":"crossref","first-page":"2851","DOI":"10.1093\/hmg\/ddy195","article-title":"Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy","volume":"27","author":"Groen","year":"2018","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20180927040305_awy237-B22","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1038\/nrneurol.2018.4","article-title":"Advances in therapy for spinal muscular atrophy: promises and challenges","volume":"14","author":"Groen","year":"2018","journal-title":"Nat Rev Neurol"},{"key":"key\n\t\t\t\t20180927040305_awy237-B23","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/ng703","article-title":"Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1","volume":"29","author":"Grohmann","year":"2001","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180927040305_awy237-B24","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/71709","article-title":"A mouse model for spinal muscular atrophy","volume":"24","author":"Hsieh-Li","year":"2000","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180927040305_awy237-B25","doi-asserted-by":"crossref","first-page":"2235","DOI":"10.1093\/hmg\/ddt612","article-title":"SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy","volume":"23","author":"Hunter","year":"2014","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20180927040305_awy237-B26","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1093\/hmg\/ddi467","article-title":"Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy","volume":"15","author":"Jablonka","year":"2006","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20180927040305_awy237-B27","doi-asserted-by":"crossref","first-page":"1710","DOI":"10.1212\/01.wnl.0000242619.52335.bc","article-title":"Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene","volume":"67","author":"James","year":"2006","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180927040305_awy237-B28","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1016\/j.nmd.2015.05.001","article-title":"X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene","volume":"25","author":"Jedrzejowska","year":"2015","journal-title":"Neuromuscul Disord"},{"key":"key\n\t\t\t\t20180927040305_awy237-B29","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.nmd.2008.02.001","article-title":"A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3)","volume":"18","author":"Jedrzejowska","year":"2008","journal-title":"Neuromuscul Disord"},{"key":"key\n\t\t\t\t20180927040305_awy237-B30","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/ng1727","article-title":"Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy","volume":"38","author":"Jordanova","year":"2006","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180927040305_awy237-B31","doi-asserted-by":"crossref","first-page":"28557","DOI":"10.1074\/jbc.272.45.28557","article-title":"Characterization of NEDD8, a developmentally down-regulated ubiquitin-like protein","volume":"272","author":"Kamitani","year":"1997","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t20180927040305_awy237-B32","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1016\/j.neuron.2017.09.057","article-title":"Regulation of mRNA translation in neurons-A matter of life and death","volume":"96","author":"Kapur","year":"2017","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20180927040305_awy237-B33","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1001\/archneurol.2011.74","article-title":"Spinal muscular atrophy: a timely review","volume":"68","author":"Kolb","year":"2011","journal-title":"Arch Neurol"},{"key":"key\n\t\t\t\t20180927040305_awy237-B34","doi-asserted-by":"crossref","first-page":"1863","DOI":"10.1091\/mbc.e13-01-0042","article-title":"The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein","volume":"24","author":"Kwon","year":"2013","journal-title":"Mol Biol Cell"},{"key":"key\n\t\t\t\t20180927040305_awy237-B35","doi-asserted-by":"crossref","first-page":"1561","DOI":"10.1002\/jcp.22870","article-title":"Two mutations impair the stability and function of ubiquitin-activating enzyme (E1)","volume":"227","author":"Lao","year":"2012","journal-title":"J Cell Physiol"},{"key":"key\n\t\t\t\t20180927040305_awy237-B36","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180927040305_awy237-B37","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/ng0797-265","article-title":"Correlation between severity and SMN protein level in spinal muscular atrophy","volume":"16","author":"Lefebvre","year":"1997","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t20180927040305_awy237-B38","doi-asserted-by":"crossref","first-page":"e15457","DOI":"10.1371\/journal.pone.0015457","article-title":"Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy","volume":"5","author":"Ling","year":"2010","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20180927040305_awy237-B39","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.nmd.2016.11.008","article-title":"IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients","volume":"27","author":"Liu","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"key\n\t\t\t\t20180927040305_awy237-B40","doi-asserted-by":"crossref","first-page":"14286","DOI":"10.1038\/ncomms14286","article-title":"Orthogonal ubiquitin transfer identifies ubiquitination substrates under differential control by the two ubiquitin activating enzymes","volume":"8","author":"Liu","year":"2017","journal-title":"Nat Commun"},{"key":"key\n\t\t\t\t20180927040305_awy237-B41","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/0022-510X(75)90207-5","article-title":"Sensory system involvement in infantile spinal muscular atrophy","volume":"26","author":"Marshall","year":"1975","journal-title":"J Neurol Sci"},{"key":"key\n\t\t\t\t20180927040305_awy237-B42","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1111\/joa.12793","article-title":"Developmental and degenerative cardiac defects in the Taiwanese mouse model of severe spinal muscular atrophy","volume":"232","author":"Maxwell","year":"2018","journal-title":"J Anat"},{"key":"key\n\t\t\t\t20180927040305_awy237-B43","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/j.neuron.2010.12.032","article-title":"Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy","volume":"69","author":"Mentis","year":"2011","journal-title":"Neuron"},{"key":"key\n\t\t\t\t20180927040305_awy237-B44","doi-asserted-by":"crossref","first-page":"e1002399","DOI":"10.1371\/journal.pgen.1002399","article-title":"Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels","volume":"7","author":"Motley","year":"2011","journal-title":"PLoS Genet"},{"key":"key\n\t\t\t\t20180927040305_awy237-B45","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.tins.2009.11.001","article-title":"GARS axonopathy: not every neuron\u2019s cup of tRNA","volume":"33","author":"Motley","year":"2010","journal-title":"Trends Neurosci"},{"key":"key\n\t\t\t\t20180927040305_awy237-B46","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1007\/BF00293462","article-title":"Immunocytochemical and ultrastructural studies of Werdnig-Hoffmann disease","volume":"81","author":"Murayama","year":"1991","journal-title":"Acta Neuropathol"},{"key":"key\n\t\t\t\t20180927040305_awy237-B47","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1016\/j.nmd.2016.06.457","article-title":"Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2","volume":"26","author":"Pedurupillay","year":"2016","journal-title":"Neuromuscul Disord"},{"key":"key\n\t\t\t\t20180927040305_awy237-B48","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1002\/ana.24775","article-title":"Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1","volume":"80","author":"Peeters","year":"2016","journal-title":"Ann Neurol"},{"key":"key\n\t\t\t\t20180927040305_awy237-B49","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1111\/joa.12419","article-title":"Selective loss of alpha motor neurons with sparing of gamma motor neurons and spinal cord cholinergic neurons in a mouse model of spinal muscular atrophy","volume":"228","author":"Powis","year":"2016","journal-title":"J Anat"},{"key":"key\n\t\t\t\t20180927040305_awy237-B50","doi-asserted-by":"crossref","first-page":"e87908","DOI":"10.1172\/jci.insight.87908","article-title":"Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy","volume":"1","author":"Powis","year":"2016","journal-title":"JCI Insight"},{"key":"key\n\t\t\t\t20180927040305_awy237-B51","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.ajhg.2007.09.009","article-title":"Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy","volume":"82","author":"Ramser","year":"2008","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t20180927040305_awy237-B52","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1097\/CND.0000000000000124","article-title":"Sensory neuronopathy in spinal muscular atrophy: a case presentation","volume":"18","author":"Reid","year":"2016","journal-title":"J Clin Neuromuscul Dis"},{"key":"key\n\t\t\t\t20180927040305_awy237-B53","doi-asserted-by":"crossref","first-page":"1492","DOI":"10.1093\/hmg\/ddq023","article-title":"SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy","volume":"19","author":"Riessland","year":"2010","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t20180927040305_awy237-B54","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1212\/01.WNL.0000052788.39340.45","article-title":"Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy","volume":"60","author":"Rudnik-Schoneborn","year":"2003","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20180927040305_awy237-B55","doi-asserted-by":"crossref","first-page":"176","DOI":"10.3858\/emm.2008.40.2.176","article-title":"Gene network and canonical pathway analysis in prostate cancer: a microarray study","volume":"40","author":"Savli","year":"2008","journal-title":"Exp Mol Med"},{"issue":"Pt 12","key":"key\n\t\t\t\t20180927040305_awy237-B56","doi-asserted-by":"crossref","first-page":"e70","DOI":"10.1093\/brain\/aww252","article-title":"MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis","volume":"139","author":"Schottmann","year":"2016","journal-title":"Brain"},{"issue":"Pt 1","key":"key\n\t\t\t\t20180927040305_awy237-B57","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1093\/brain\/awv311","article-title":"Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease","volume":"139","author":"Sevilla","year":"2016","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180927040305_awy237-B58","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1007\/s40265-018-0868-8","article-title":"Overview of current drugs and molecules in development for spinal muscular atrophy therapy","volume":"78","author":"Shorrock","year":"2018","journal-title":"Drugs"},{"key":"key\n\t\t\t\t20180927040305_awy237-B59","doi-asserted-by":"crossref","first-page":"3767","DOI":"10.1016\/j.celrep.2017.12.003","article-title":"Converging mechanisms of p53 activation drive motor neuron degeneration in spinal muscular atrophy","volume":"21","author":"Simon","year":"2017","journal-title":"Cell Rep"},{"issue":"Pt 10","key":"key\n\t\t\t\t20180927040305_awy237-B60","doi-asserted-by":"crossref","first-page":"2304","DOI":"10.1093\/brain\/awh590","article-title":"Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations","volume":"128","author":"Sivakumar","year":"2005","journal-title":"Brain"},{"key":"key\n\t\t\t\t20180927040305_awy237-B61","doi-asserted-by":"crossref","first-page":"E3324","DOI":"10.1073\/pnas.1614557114","article-title":"Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations","volume":"114","author":"Sleigh","year":"2017","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t20180927040305_awy237-B62","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1186\/s13104-016-1915-8","article-title":"A simple, step-by-step dissection protocol for the rapid isolation of mouse dorsal root ganglia","volume":"9","author":"Sleigh","year":"2016","journal-title":"BMC Res Notes"},{"key":"key\n\t\t\t\t20180927040305_awy237-B63","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/ejhg.2011.134","article-title":"Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens","volume":"20","author":"Sugarman","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"key\n\t\t\t\t20180927040305_awy237-B64","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1111\/joa.12546","article-title":"Survival of motor neurone protein is required for normal postnatal development of the spleen","volume":"230","author":"Thomson","year":"2017","journal-title":"J Anat"},{"key":"key\n\t\t\t\t20180927040305_awy237-B65","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy\u2014a literature review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"key\n\t\t\t\t20180927040305_awy237-B66","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.1172\/JCI71318","article-title":"Dysregulation of ubiquitin homeostasis and beta-catenin signaling promote spinal muscular atrophy","volume":"124","author":"Wishart","year":"2014","journal-title":"J Clin Invest"},{"key":"key\n\t\t\t\t20180927040305_awy237-B67","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1074\/mcp.M600457-MCP200","article-title":"Differential proteomics analysis of synaptic proteins identifies potential cellular targets and protein mediators of synaptic neuroprotection conferred by the slow Wallerian degeneration (Wlds) gene","volume":"6","author":"Wishart","year":"2007","journal-title":"Mol Cell Proteomics"},{"key":"key\n\t\t\t\t20180927040305_awy237-B68","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/nature14973","article-title":"The C9orf72 repeat expansion disrupts nucleocytoplasmic transport","volume":"525","author":"Zhang","year":"2015","journal-title":"Nature"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/141\/10\/2878\/25839084\/awy237.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,22]],"date-time":"2019-10-22T15:33:05Z","timestamp":1571758385000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/141\/10\/2878\/5104293"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,25]]},"references-count":68,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2018,9,25]]},"published-print":{"date-parts":[[2018,10,1]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awy237","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,10]]},"published":{"date-parts":[[2018,9,25]]}}}