{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:35:41Z","timestamp":1792784141986,"version":"4.5.0"},"reference-count":174,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2017,1,24]],"date-time":"2017-01-24T00:00:00Z","timestamp":1485216000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Italian Ministry of Education, Universities and Research","award":["CTN01_00177_817708"],"award-info":[{"award-number":["CTN01_00177_817708"]}],"id":[{"id":"https:\/\/ror.org\/0166hxq48","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Neurobiol"],"published-print":{"date-parts":[[2018,2]]},"DOI":"10.1007\/s12035-017-0393-x","type":"journal-article","created":{"date-parts":[[2017,1,24]],"date-time":"2017-01-24T03:26:57Z","timestamp":1485228417000},"page":"1299-1322","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Copy Number Variations in Amyotrophic Lateral Sclerosis: Piecing the Mosaic Tiles Together through a Systems Biology Approach"],"prefix":"10.1007","volume":"55","author":[{"given":"Giovanna","family":"Morello","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Guarnaccia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio Gianmaria","family":"Spampinato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"La Cognata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Velia","family":"D\u2019Agata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastiano","family":"Cavallaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,1,24]]},"reference":[{"issue":"4","key":"393_CR1","doi-asserted-by":"publisher","first-page":"735","DOI":"10.1016\/j.ncl.2015.07.006","volume":"33","author":"JM Statland","year":"2015","unstructured":"Statland JM, Barohn RJ, McVey AL, Katz JS, Dimachkie MM (2015) Patterns of weakness, classification of motor neuron disease, and clinical diagnosis of sporadic amyotrophic lateral sclerosis. Neurol Clin 33(4):735\u2013748. doi: 10.1016\/j.ncl.2015.07.006","journal-title":"Neurol Clin"},{"issue":"11","key":"393_CR2","doi-asserted-by":"publisher","first-page":"2917","DOI":"10.1007\/s00415-013-7112-y","volume":"260","author":"Y Iguchi","year":"2013","unstructured":"Iguchi Y, Katsuno M, Ikenaka K, Ishigaki S, Sobue G (2013) Amyotrophic lateral sclerosis: an update on recent genetic insights. J Neurol 260(11):2917\u20132927. doi: 10.1007\/s00415-013-7112-y","journal-title":"J Neurol"},{"issue":"4","key":"393_CR3","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1080\/14660820310011287","volume":"4","author":"DA Figlewicz","year":"2003","unstructured":"Figlewicz DA, Orrell RW (2003) The genetics of motor neuron diseases. Amyotrophic lateral sclerosis and other motor neuron disorders: official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases 4(4):225\u2013231","journal-title":"Amyotrophic lateral sclerosis and other motor neuron disorders: official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases"},{"issue":"10","key":"393_CR4","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1016\/S1474-4422(07)70222-3","volume":"6","author":"MA Es van","year":"2007","unstructured":"van Es MA, Van Vught PW, Blauw HM, Franke L, Saris CG, Andersen PM, Van Den Bosch L, de Jong SW et al (2007) ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. The Lancet Neurology 6(10):869\u2013877. doi: 10.1016\/S1474-4422(07)70222-3","journal-title":"The Lancet Neurology"},{"issue":"8","key":"393_CR5","doi-asserted-by":"publisher","first-page":"775","DOI":"10.1056\/NEJMoa070174","volume":"357","author":"T Dunckley","year":"2007","unstructured":"Dunckley T, Huentelman MJ, Craig DW, Pearson JV, Szelinger S, Joshipura K, Halperin RF, Stamper C et al (2007) Whole-genome analysis of sporadic amyotrophic lateral sclerosis. N Engl J Med 357(8):775\u2013788. doi: 10.1056\/NEJMoa070174","journal-title":"N Engl J Med"},{"issue":"1","key":"393_CR6","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1038\/ng.2007.52","volume":"40","author":"MA Es van","year":"2008","unstructured":"van Es MA, van Vught PW, Blauw HM, Franke L, Saris CG, Van den Bosch L, de Jong SW, de Jong V et al (2008) Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet 40(1):29\u201331. doi: 10.1038\/ng.2007.52","journal-title":"Nat Genet"},{"issue":"10","key":"393_CR7","doi-asserted-by":"publisher","first-page":"1083","DOI":"10.1038\/ng.442","volume":"41","author":"MA Es van","year":"2009","unstructured":"van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, Lemmens R, Schelhaas HJ et al (2009) Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 41(10):1083\u20131087. doi: 10.1038\/ng.442","journal-title":"Nat Genet"},{"issue":"7118","key":"393_CR8","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1038\/nature05329","volume":"444","author":"R Redon","year":"2006","unstructured":"Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH et al (2006) Global variation in copy number in the human genome. Nature 444(7118):444\u2013454. doi: 10.1038\/nature05329","journal-title":"Nature"},{"issue":"7 Suppl","key":"393_CR9","doi-asserted-by":"publisher","first-page":"S43","DOI":"10.1038\/ng2084","volume":"39","author":"JR Lupski","year":"2007","unstructured":"Lupski JR (2007) Genomic rearrangements and sporadic disease. Nat Genet 39(7 Suppl):S43\u2013S47. doi: 10.1038\/ng2084","journal-title":"Nat Genet"},{"issue":"1","key":"393_CR10","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1186\/gm2","volume":"1","author":"C Auffray","year":"2009","unstructured":"Auffray C, Chen Z, Hood L (2009) Systems medicine: the future of medical genomics and healthcare. Genome medicine 1(1):2. doi: 10.1186\/gm2","journal-title":"Genome medicine"},{"issue":"5","key":"393_CR11","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1016\/j.tig.2008.03.001","volume":"24","author":"ME Hurles","year":"2008","unstructured":"Hurles ME, Dermitzakis ET, Tyler-Smith C (2008) The functional impact of structural variation in humans. Trends in genetics : TIG 24(5):238\u2013245. doi: 10.1016\/j.tig.2008.03.001","journal-title":"Trends in genetics : TIG"},{"issue":"4","key":"393_CR12","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1038\/nrg2554","volume":"10","author":"KA Frazer","year":"2009","unstructured":"Frazer KA, Murray SS, Schork NJ, Topol EJ (2009) Human genetic variation and its contribution to complex traits. Nat Rev Genet 10(4):241\u2013251. doi: 10.1038\/nrg2554","journal-title":"Nat Rev Genet"},{"key":"393_CR13","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1146\/annurev-med-100708-204735","volume":"61","author":"P Stankiewicz","year":"2010","unstructured":"Stankiewicz P, Lupski JR (2010) Structural variation in the human genome and its role in disease. Annu Rev Med 61:437\u2013455. doi: 10.1146\/annurev-med-100708-204735","journal-title":"Annu Rev Med"},{"issue":"2","key":"393_CR14","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1038\/nrg1767","volume":"7","author":"L Feuk","year":"2006","unstructured":"Feuk L, Carson AR, Scherer SW (2006) Structural variation in the human genome. Nat Rev Genet 7(2):85\u201397. doi: 10.1038\/nrg1767","journal-title":"Nat Rev Genet"},{"issue":"3","key":"393_CR15","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1038\/nrg3871","volume":"16","author":"M Zarrei","year":"2015","unstructured":"Zarrei M, MacDonald JR, Merico D, Scherer SW (2015) A copy number variation map of the human genome. Nat Rev Genet 16(3):172\u2013183. doi: 10.1038\/nrg3871","journal-title":"Nat Rev Genet"},{"issue":"3","key":"393_CR16","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1016\/j.ygeno.2014.12.003","volume":"105","author":"MY Hwang","year":"2015","unstructured":"Hwang MY, Moon S, Heo L, Kim YJ, Oh JH, Kim YJ, Kim YK, Lee J et al (2015) Combinatorial approach to estimate copy number genotype using whole-exome sequencing data. Genomics 105(3):145\u2013149. doi: 10.1016\/j.ygeno.2014.12.003","journal-title":"Genomics"},{"issue":"11","key":"393_CR17","doi-asserted-by":"publisher","first-page":"1074","DOI":"10.1038\/ng.944","volume":"43","author":"CM Carvalho","year":"2011","unstructured":"Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK et al (2011) Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet 43(11):1074\u20131081. doi: 10.1038\/ng.944","journal-title":"Nat Genet"},{"issue":"1-4","key":"393_CR18","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1159\/000184723","volume":"123","author":"E Aten","year":"2008","unstructured":"Aten E, White SJ, Kalf ME, Vossen RH, Thygesen HH, Ruivenkamp CA, Kriek M, Breuning MH et al (2008) Methods to detect CNVs in the human genome. Cytogenetic and genome research 123(1-4):313\u2013321. doi: 10.1159\/000184723","journal-title":"Cytogenetic and genome research"},{"issue":"1","key":"393_CR19","first-page":"41","volume":"4","author":"OP Kallioniemi","year":"1993","unstructured":"Kallioniemi OP, Kallioniemi A, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D (1993) Comparative genomic hybridization: a rapid new method for detecting and mapping DNA amplification in tumors. Semin Cancer Biol 4(1):41\u201346","journal-title":"Semin Cancer Biol"},{"issue":"12","key":"393_CR20","doi-asserted-by":"publisher","first-page":"1326","DOI":"10.1002\/humu.21360","volume":"31","author":"PM Boone","year":"2010","unstructured":"Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y et al (2010) Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat 31(12):1326\u20131342. doi: 10.1002\/humu.21360","journal-title":"Hum Mutat"},{"key":"393_CR21","doi-asserted-by":"publisher","unstructured":"Lin CF, Naj AC, Wang LS (2013) Analyzing copy number variation using SNP array data: protocols for calling CNV and association tests. Current protocols in human genetics\/editorial board, Jonathan L Haines [et al.] 79:Unit 1 27. doi: 10.1002\/0471142905.hg0127s79","DOI":"10.1002\/0471142905.hg0127s79"},{"issue":"12","key":"393_CR22","doi-asserted-by":"publisher","first-page":"432","DOI":"10.1016\/j.cancergen.2013.11.002","volume":"206","author":"HJ Abel","year":"2013","unstructured":"Abel HJ, Duncavage EJ (2013) Detection of structural DNA variation from next generation sequencing data: a review of informatic approaches. Cancer genetics 206(12):432\u2013440. doi: 10.1016\/j.cancergen.2013.11.002","journal-title":"Cancer genetics"},{"key":"393_CR23","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1186\/1471-2164-8-167","volume":"8","author":"Y Qiao","year":"2007","unstructured":"Qiao Y, Liu X, Harvard C, Nolin SL, Brown WT, Koochek M, Holden JJ, Lewis ME et al (2007) Large-scale copy number variants (CNVs): distribution in normal subjects and FISH\/real-time qPCR analysis. BMC Genomics 8:167. doi: 10.1186\/1471-2164-8-167","journal-title":"BMC Genomics"},{"issue":"5","key":"393_CR24","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1002\/humu.20035","volume":"23","author":"LN Sellner","year":"2004","unstructured":"Sellner LN, Taylor GR (2004) MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 23(5):413\u2013419. doi: 10.1002\/humu.20035","journal-title":"Hum Mutat"},{"issue":"7289","key":"393_CR25","doi-asserted-by":"publisher","first-page":"704","DOI":"10.1038\/nature08516","volume":"464","author":"DF Conrad","year":"2010","unstructured":"Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD et al (2010) Origins and functional impact of copy number variation in the human genome. Nature 464(7289):704\u2013712. doi: 10.1038\/nature08516","journal-title":"Nature"},{"issue":"3","key":"393_CR26","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1016\/j.gde.2012.02.012","volume":"22","author":"P Liu","year":"2012","unstructured":"Liu P, Carvalho CM, Hastings PJ, Lupski JR (2012) Mechanisms for recurrent and complex human genomic rearrangements. Current opinion in genetics & development 22(3):211\u2013220. doi: 10.1016\/j.gde.2012.02.012","journal-title":"Current opinion in genetics & development"},{"key":"393_CR27","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1186\/1755-8794-4-16","volume":"4","author":"E Przybytkowski","year":"2011","unstructured":"Przybytkowski E, Ferrario C, Basik M (2011) The use of ultra-dense array CGH analysis for the discovery of micro-copy number alterations and gene fusions in the cancer genome. BMC Med Genet 4:16. doi: 10.1186\/1755-8794-4-16","journal-title":"BMC Med Genet"},{"issue":"Database issue","key":"393_CR28","doi-asserted-by":"publisher","first-page":"D986","DOI":"10.1093\/nar\/gkt958","volume":"42","author":"JR MacDonald","year":"2014","unstructured":"MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW (2014) The database of genomic variants: a curated collection of structural variation in the human genome. Nucleic Acids Res 42(Database issue):D986\u2013D992. doi: 10.1093\/nar\/gkt958","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"393_CR29","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.neuron.2006.09.027","volume":"52","author":"JA Lee","year":"2006","unstructured":"Lee JA, Lupski JR (2006) Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 52(1):103\u2013121. doi: 10.1016\/j.neuron.2006.09.027","journal-title":"Neuron"},{"issue":"9","key":"393_CR30","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1097\/GIM.0b013e318183f848","volume":"10","author":"JA Buchanan","year":"2008","unstructured":"Buchanan JA, Scherer SW (2008) Contemplating effects of genomic structural variation. Genetics in medicine: official journal of the American College of Medical Genetics 10(9):639\u2013647. doi: 10.1097\/GIM.0b013e318183f848","journal-title":"Genetics in medicine: official journal of the American College of Medical Genetics"},{"issue":"5","key":"393_CR31","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1038\/gim.2015.124","volume":"18","author":"D Pehlivan","year":"2016","unstructured":"Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT et al (2016) The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genetics in medicine : official journal of the American College of Medical Genetics 18(5):443\u2013451. doi: 10.1038\/gim.2015.124","journal-title":"Genetics in medicine : official journal of the American College of Medical Genetics"},{"issue":"11","key":"393_CR32","doi-asserted-by":"publisher","first-page":"1366","DOI":"10.1038\/mp.2014.150","volume":"20","author":"AK Merikangas","year":"2015","unstructured":"Merikangas AK, Segurado R, Heron EA, Anney RJ, Paterson AD, Cook EH, Pinto D, Scherer SW et al (2015) The phenotypic manifestations of rare genic CNVs in autism spectrum disorder. Mol Psychiatry 20(11):1366\u20131372. doi: 10.1038\/mp.2014.150","journal-title":"Mol Psychiatry"},{"issue":"1","key":"393_CR33","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1038\/npp.2014.216","volume":"40","author":"S Gulsuner","year":"2015","unstructured":"Gulsuner S, McClellan JM (2015) Copy number variation in schizophrenia. Neuropsychopharmacology: official publication of the American College of Neuropsychopharmacology 40(1):252\u2013254. doi: 10.1038\/npp.2014.216","journal-title":"Neuropsychopharmacology: official publication of the American College of Neuropsychopharmacology"},{"issue":"4","key":"393_CR34","doi-asserted-by":"publisher","first-page":"180","DOI":"10.5698\/1535-7511-15.4.180","volume":"15","author":"HC Mefford","year":"2015","unstructured":"Mefford HC (2015) Copy number matters in epilepsy. Epilepsy currents\/American Epilepsy Society 15(4):180\u2013182. doi: 10.5698\/1535-7511-15.4.180","journal-title":"Epilepsy currents\/American Epilepsy Society"},{"issue":"2","key":"393_CR35","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1186\/gm227","volume":"3","author":"K Fransen","year":"2011","unstructured":"Fransen K, Mitrovic M, van Diemen CC, Weersma RK (2011) The quest for genetic risk factors for Crohn\u2019s disease in the post-GWAS era. Genome medicine 3(2):13. doi: 10.1186\/gm227","journal-title":"Genome medicine"},{"issue":"2","key":"393_CR36","doi-asserted-by":"publisher","first-page":"517","DOI":"10.3233\/JAD-2012-121285","volume":"33","author":"K Szigeti","year":"2013","unstructured":"Szigeti K, Lal D, Li Y, Doody RS, Wilhelmsen K, Yan L, Liu S, Ma C et al (2013) Genome-wide scan for copy number variation association with age at onset of Alzheimer\u2019s disease. Journal of Alzheimer\u2019s disease : JAD 33(2):517\u2013523. doi: 10.3233\/JAD-2012-121285","journal-title":"Journal of Alzheimer\u2019s disease : JAD"},{"issue":"9","key":"393_CR37","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1186\/gm183","volume":"2","author":"M Toft","year":"2010","unstructured":"Toft M, Ross OA (2010) Copy number variation in Parkinson\u2019s disease. Genome medicine 2(9):62. doi: 10.1186\/gm183","journal-title":"Genome medicine"},{"key":"393_CR38","doi-asserted-by":"publisher","unstructured":"Schymick JC, Talbot K, Traynor BJ (2007) Genetics of sporadic amyotrophic lateral sclerosis. Human molecular genetics 16 Spec No. 2:R233-242. doi: 10.1093\/hmg\/ddm215","DOI":"10.1093\/hmg\/ddm215"},{"issue":"7","key":"393_CR39","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1093\/hmg\/8.7.1177","volume":"8","author":"UR Monani","year":"1999","unstructured":"Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, Burghes AH, McPherson JD (1999) A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 8(7):1177\u20131183","journal-title":"Hum Mol Genet"},{"issue":"5599","key":"393_CR40","doi-asserted-by":"publisher","first-page":"1775","DOI":"10.1126\/science.1074962","volume":"298","author":"L Pellizzoni","year":"2002","unstructured":"Pellizzoni L, Yong J, Dreyfuss G (2002) Essential role for the SMN complex in the specificity of snRNP assembly. Science 298(5599):1775\u20131779. doi: 10.1126\/science.1074962","journal-title":"Science"},{"issue":"8","key":"393_CR41","doi-asserted-by":"publisher","first-page":"990","DOI":"10.1177\/0883073807305666","volume":"22","author":"SJ Kolb","year":"2007","unstructured":"Kolb SJ, Battle DJ, Dreyfuss G (2007) Molecular functions of the SMN complex. J Child Neurol 22(8):990\u2013994. doi: 10.1177\/0883073807305666","journal-title":"J Child Neurol"},{"key":"393_CR42","doi-asserted-by":"publisher","first-page":"7","DOI":"10.3389\/fmolb.2016.00007","volume":"3","author":"ME Butchbach","year":"2016","unstructured":"Butchbach ME (2016) Copy number variations in the survival motor neuron genes: implications for spinal muscular atrophy and other neurodegenerative diseases. Front Mol Biosci 3:7. doi: 10.3389\/fmolb.2016.00007","journal-title":"Front Mol Biosci"},{"issue":"5-6","key":"393_CR43","doi-asserted-by":"publisher","first-page":"436","DOI":"10.3109\/17482960902759162","volume":"10","author":"P Corcia","year":"2009","unstructured":"Corcia P, Camu W, Praline J, Gordon PH, Vourch P, Andres C (2009) The importance of the SMN genes in the genetics of sporadic ALS. Amyotrophic lateral sclerosis: official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 10(5-6):436\u2013440. doi: 10.3109\/17482960902759162","journal-title":"Amyotrophic lateral sclerosis: official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases"},{"issue":"6","key":"393_CR44","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1212\/WNL.56.6.749","volume":"56","author":"JH Veldink","year":"2001","unstructured":"Veldink JH, van den Berg LH, Cobben JM, Stulp RP, De Jong JM, Vogels OJ, Baas F, Wokke JH et al (2001) Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS. Neurology 56(6):749\u2013752","journal-title":"Neurology"},{"issue":"2","key":"393_CR45","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/ana.10104","volume":"51","author":"P Corcia","year":"2002","unstructured":"Corcia P, Mayeux-Portas V, Khoris J, de Toffol B, Autret A, Muh JP, Camu W, Andres C et al (2002) Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. Ann Neurol 51(2):243\u2013246","journal-title":"Ann Neurol"},{"issue":"6","key":"393_CR46","doi-asserted-by":"publisher","first-page":"820","DOI":"10.1212\/01.wnl.0000174472.03292.dd","volume":"65","author":"JH Veldink","year":"2005","unstructured":"Veldink JH, Kalmijn S, Van der Hout AH, Lemmink HH, Groeneveld GJ, Lummen C, Scheffer H, Wokke JH et al (2005) SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS. Neurology 65(6):820\u2013825. doi: 10.1212\/01.wnl.0000174472.03292.dd","journal-title":"Neurology"},{"issue":"7","key":"393_CR47","doi-asserted-by":"publisher","first-page":"1147","DOI":"10.1212\/01.wnl.0000233830.85206.1e","volume":"67","author":"P Corcia","year":"2006","unstructured":"Corcia P, Camu W, Halimi JM, Vourc\u2019h P, Antar C, Vedrine S, Giraudeau B, de Toffol B et al (2006) SMN1 gene, but not SMN2, is a risk factor for sporadic ALS. Neurology 67(7):1147\u20131150. doi: 10.1212\/01.wnl.0000233830.85206.1e","journal-title":"Neurology"},{"issue":"1-2","key":"393_CR48","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/j.jns.2014.02.026","volume":"340","author":"XB Wang","year":"2014","unstructured":"Wang XB, Cui NH, Gao JJ, Qiu XP, Zheng F (2014) SMN1 duplications contribute to sporadic amyotrophic lateral sclerosis susceptibility: evidence from a meta-analysis. J Neurol Sci 340(1-2):63\u201368. doi: 10.1016\/j.jns.2014.02.026","journal-title":"J Neurol Sci"},{"issue":"6","key":"393_CR49","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1002\/ana.10378","volume":"52","author":"RL Skolasky Jr","year":"2002","unstructured":"Crawford TO, Skolasky RL Jr (2002) The relationship of SMN to amyotrophic lateral sclerosis. Ann Neurol 52(6):857\u2013858 . doi: 10.1002\/ana.10378 author reply 858-861","journal-title":"Ann Neurol"},{"issue":"9","key":"393_CR50","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1212\/01.WNL.0000032496.64510.4E","volume":"59","author":"J Gamez","year":"2002","unstructured":"Gamez J, Barcelo MJ, Munoz X, Carmona F, Cusco I, Baiget M, Cervera C, Tizzano EF (2002) Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients. Neurology 59(9):1456\u20131460","journal-title":"Neurology"},{"issue":"5","key":"393_CR51","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1038\/ejhg.2011.255","volume":"20","author":"P Corcia","year":"2012","unstructured":"Corcia P, Ingre C, Blasco H, Press R, Praline J, Antar C, Veyrat-Durebex C et al (2012) Homozygous SMN2 deletion is a protective factor in the Swedish ALS population. European Journal of Human Genetics: EJHG 20(5):588\u2013591. doi: 10.1038\/ejhg.2011.255","journal-title":"European Journal of Human Genetics: EJHG"},{"key":"393_CR52","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1016\/j.nbd.2014.12.002","volume":"74","author":"E Aronica","year":"2015","unstructured":"Aronica E, Baas F, Iyer A, ten Asbroek AL, Morello G, Cavallaro S (2015) Molecular classification of amyotrophic lateral sclerosis by unsupervised clustering of gene expression in motor cortex. Neurobiol Dis 74:359\u2013376. doi: 10.1016\/j.nbd.2014.12.002","journal-title":"Neurobiol Dis"},{"issue":"11","key":"393_CR53","doi-asserted-by":"publisher","first-page":"776","DOI":"10.1212\/WNL.0b013e318249f697","volume":"78","author":"HM Blauw","year":"2012","unstructured":"Blauw HM, Barnes CP, van Vught PW, van Rheenen W, Verheul M, Cuppen E, Veldink JH, van den Berg LH (2012) SMN1 gene duplications are associated with sporadic ALS. Neurology 78(11):776\u2013780. doi: 10.1212\/WNL.0b013e318249f697","journal-title":"Neurology"},{"issue":"4","key":"393_CR54","doi-asserted-by":"publisher","first-page":"850","DOI":"10.1016\/j.bbrc.2007.10.096","volume":"364","author":"T Zou","year":"2007","unstructured":"Zou T, Ilangovan R, Yu F, Xu Z, Zhou J (2007) SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity. Biochem Biophys Res Commun 364(4):850\u2013855. doi: 10.1016\/j.bbrc.2007.10.096","journal-title":"Biochem Biophys Res Commun"},{"issue":"3","key":"393_CR55","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1016\/j.nbd.2009.03.005","volume":"34","author":"BJ Turner","year":"2009","unstructured":"Turner BJ, Parkinson NJ, Davies KE, Talbot K (2009) Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model. Neurobiol Dis 34(3):511\u2013517. doi: 10.1016\/j.nbd.2009.03.005","journal-title":"Neurobiol Dis"},{"issue":"4","key":"393_CR56","doi-asserted-by":"publisher","first-page":"906","DOI":"10.1016\/j.neurobiolaging.2013.09.030","volume":"35","author":"BJ Turner","year":"2014","unstructured":"Turner BJ, Alfazema N, Sheean RK, Sleigh JN, Davies KE, Horne MK, Talbot K (2014) Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice. Neurobiol Aging 35(4):906\u2013915. doi: 10.1016\/j.neurobiolaging.2013.09.030","journal-title":"Neurobiol Aging"},{"key":"393_CR57","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1016\/j.nbd.2013.03.003","volume":"55","author":"V Gerbino","year":"2013","unstructured":"Gerbino V, Carri MT, Cozzolino M, Achsel T (2013) Mislocalised FUS mutants stall spliceosomal snRNPs in the cytoplasm. Neurobiol Dis 55:120\u2013128. doi: 10.1016\/j.nbd.2013.03.003","journal-title":"Neurobiol Dis"},{"issue":"6","key":"393_CR58","doi-asserted-by":"publisher","first-page":"3208","DOI":"10.1093\/nar\/gkv157","volume":"43","author":"Y Yu","year":"2015","unstructured":"Yu Y, Chi B, Xia W, Gangopadhyay J, Yamazaki T, Winkelbauer-Hurt ME, Yin S, Eliasse Y et al (2015) U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish. Nucleic Acids Res 43(6):3208\u20133218. doi: 10.1093\/nar\/gkv157","journal-title":"Nucleic Acids Res"},{"issue":"18","key":"393_CR59","doi-asserted-by":"publisher","first-page":"3690","DOI":"10.1093\/hmg\/ddt222","volume":"22","author":"EJ Groen","year":"2013","unstructured":"Groen EJ, Fumoto K, Blokhuis AM, Engelen-Lee J, Zhou Y, van den Heuvel DM, Koppers M, van Diggelen F et al (2013) ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN. Hum Mol Genet 22(18):3690\u20133704. doi: 10.1093\/hmg\/ddt222","journal-title":"Hum Mol Genet"},{"key":"393_CR60","doi-asserted-by":"publisher","first-page":"216094","DOI":"10.1155\/2014\/216094","volume":"2014","author":"L Tremolizzo","year":"2014","unstructured":"Tremolizzo L, Sala G, Conti E, Rodriguez-Menendez V, Fogli A, Michelucci A, Simi P, Penco S et al (2014) Valproate treatment in an ALS patient carrying a c.194G\u00a0>\u00a0A spastin mutation and SMN2 homozygous deletion. Case reports in neurological medicine 2014:216094. doi: 10.1155\/2014\/216094","journal-title":"Case reports in neurological medicine"},{"issue":"2","key":"393_CR61","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1006\/geno.2000.6379","volume":"70","author":"CB Kunst","year":"2000","unstructured":"Kunst CB, Messer L, Gordon J, Haines J, Patterson D (2000) Genetic mapping of a mouse modifier gene that can prevent ALS onset. Genomics 70(2):181\u2013189. doi: 10.1006\/geno.2000.6379","journal-title":"Genomics"},{"issue":"2-3","key":"393_CR62","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1159\/000101843","volume":"4","author":"A Petzold","year":"2007","unstructured":"Petzold A, Keir G, Warren J, Fox N, Rossor MN (2007) A systematic review and meta-analysis of CSF neurofilament protein levels as biomarkers in dementia. Neurodegener Dis 4(2-3):185\u2013194. doi: 10.1159\/000101843","journal-title":"Neurodegener Dis"},{"issue":"1","key":"393_CR63","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1016\/j.nbd.2005.06.016","volume":"21","author":"ML Garcia","year":"2006","unstructured":"Garcia ML, Singleton AB, Hernandez D, Ward CM, Evey C, Sapp PA, Hardy J, Brown RH Jr et al (2006) Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis. Neurobiol Dis 21(1):102\u2013109. doi: 10.1016\/j.nbd.2005.06.016","journal-title":"Neurobiol Dis"},{"issue":"4","key":"393_CR64","first-page":"441","volume":"76","author":"PH Tu","year":"1997","unstructured":"Tu PH, Gurney ME, Julien JP, Lee VM, Trojanowski JQ (1997) Oxidative stress, mutant SOD1, and neurofilament pathology in transgenic mouse models of human motor neuron disease. Laboratory investigation; a journal of technical methods and pathology 76(4):441\u2013456","journal-title":"Laboratory investigation; a journal of technical methods and pathology"},{"issue":"2","key":"393_CR65","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/0022-510X(84)90199-0","volume":"63","author":"MB Delisle","year":"1984","unstructured":"Delisle MB, Carpenter S (1984) Neurofibrillary axonal swellings and amyotrophic lateral sclerosis. J Neurol Sci 63(2):241\u2013250","journal-title":"J Neurol Sci"},{"issue":"Pt 2","key":"393_CR66","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1093\/brain\/112.2.521","volume":"112","author":"PN Leigh","year":"1989","unstructured":"Leigh PN, Dodson A, Swash M, Brion JP, Anderton BH (1989) Cytoskeletal abnormalities in motor neuron disease. An immunocytochemical study. Brain : a journal of neurology 112(Pt 2):521\u2013535","journal-title":"Brain : a journal of neurology"},{"issue":"16","key":"393_CR67","doi-asserted-by":"crossref","first-page":"9631","DOI":"10.1073\/pnas.95.16.9631","volume":"95","author":"TL Williamson","year":"1998","unstructured":"Williamson TL, Bruijn LI, Zhu Q, Anderson KL, Anderson SD, Julien JP, Cleveland DW (1998) Absence of neurofilaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase 1 mutant. Proc Natl Acad Sci U S A 95(16):9631\u20139636","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"2","key":"393_CR68","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1093\/hmg\/8.2.157","volume":"8","author":"A Al-Chalabi","year":"1999","unstructured":"Al-Chalabi A, Andersen PM, Nilsson P, Chioza B, Andersson JL, Russ C, Shaw CE, Powell JF et al (1999) Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum Mol Genet 8(2):157\u2013164","journal-title":"Hum Mol Genet"},{"issue":"7","key":"393_CR69","doi-asserted-by":"crossref","first-page":"1947","DOI":"10.1002\/j.1460-2075.1988.tb03032.x","volume":"7","author":"JF Lees","year":"1988","unstructured":"Lees JF, Shneidman PS, Skuntz SF, Carden MJ, Lazzarini RA (1988) The structure and organization of the human heavy neurofilament subunit (NF-H) and the gene encoding it. EMBO J 7(7):1947\u20131955","journal-title":"EMBO J"},{"issue":"10","key":"393_CR70","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1093\/hmg\/3.10.1757","volume":"3","author":"DA Figlewicz","year":"1994","unstructured":"Figlewicz DA, Krizus A, Martinoli MG, Meininger V, Dib M, Rouleau GA, Julien JP (1994) Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet 3(10):1757\u20131761","journal-title":"Hum Mol Genet"},{"issue":"3","key":"393_CR71","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1212\/WNL.46.3.789","volume":"46","author":"K Rooke","year":"1996","unstructured":"Rooke K, Figlewicz DA, Han FY, Rouleau GA (1996) Analysis of the KSP repeat of the neurofilament heavy subunit in familiar amyotrophic lateral sclerosis. Neurology 46(3):789\u2013790","journal-title":"Neurology"},{"issue":"5-6","key":"393_CR72","doi-asserted-by":"publisher","first-page":"359","DOI":"10.3109\/21678421.2015.1047454","volume":"16","author":"R Huang","year":"2015","unstructured":"Huang R, Guo X, Chen X, Zheng Z, Wei Q, Cao B, Zeng Y, Shang H (2015) The serum lipid profiles of amyotrophic lateral sclerosis patients: a study from south-west China and a meta-analysis. Amyotrophic lateral sclerosis & frontotemporal degeneration 16(5-6):359\u2013365. doi: 10.3109\/21678421.2015.1047454","journal-title":"Amyotrophic lateral sclerosis & frontotemporal degeneration"},{"issue":"3","key":"393_CR73","doi-asserted-by":"publisher","first-page":"e17985","DOI":"10.1371\/journal.pone.0017985","volume":"6","author":"SM Kim","year":"2011","unstructured":"Kim SM, Kim H, Kim JE, Park KS, Sung JJ, Kim SH, Lee KW (2011) Amyotrophic lateral sclerosis is associated with hypolipidemia at the presymptomatic stage in mice. PLoS One 6(3):e17985. doi: 10.1371\/journal.pone.0017985","journal-title":"PLoS One"},{"issue":"12","key":"393_CR74","doi-asserted-by":"publisher","first-page":"3308","DOI":"10.1111\/j.1742-4658.2009.07057.x","volume":"276","author":"J Zhai","year":"2009","unstructured":"Zhai J, Strom AL, Kilty R, Venkatakrishnan P, White J, Everson WV, Smart EJ, Zhu H (2009) Proteomic characterization of lipid raft proteins in amyotrophic lateral sclerosis mouse spinal cord. FEBS J 276(12):3308\u20133323. doi: 10.1111\/j.1742-4658.2009.07057.x","journal-title":"FEBS J"},{"issue":"13","key":"393_CR75","doi-asserted-by":"publisher","first-page":"1004","DOI":"10.1212\/01.wnl.0000285080.70324.27","volume":"70","author":"L Dupuis","year":"2008","unstructured":"Dupuis L, Corcia P, Fergani A, Gonzalez De Aguilar JL, Bonnefont-Rousselot D, Bittar R, Seilhean D, Hauw JJ et al (2008) Dyslipidemia is a protective factor in amyotrophic lateral sclerosis. Neurology 70(13):1004\u20131009. doi: 10.1212\/01.wnl.0000285080.70324.27","journal-title":"Neurology"},{"issue":"5","key":"393_CR76","doi-asserted-by":"publisher","first-page":"432","DOI":"10.1111\/neup.12204","volume":"35","author":"K Nakamura","year":"2015","unstructured":"Nakamura K, Mori F, Tanji K, Miki Y, Yamada M, Kakita A, Takahashi H, Utsumi J et al (2015) Isopentenyl diphosphate isomerase, a cholesterol synthesizing enzyme, is localized in Lewy bodies. Neuropathology: official journal of the Japanese Society of Neuropathology 35(5):432\u2013440. doi: 10.1111\/neup.12204","journal-title":"Neuropathology: official journal of the Japanese Society of Neuropathology"},{"issue":"6","key":"393_CR77","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1039\/np9971400591","volume":"14","author":"AC Ramos-Valdivia","year":"1997","unstructured":"Ramos-Valdivia AC, van der Heijden R, Verpoorte R (1997) Isopentenyl diphosphate isomerase: a core enzyme in isoprenoid biosynthesis. A review of its biochemistry and function. Nat Prod Rep 14(6):591\u2013603","journal-title":"Nat Prod Rep"},{"issue":"2","key":"393_CR78","doi-asserted-by":"publisher","first-page":"438","DOI":"10.1016\/j.bbrc.2010.10.056","volume":"402","author":"T Kato","year":"2010","unstructured":"Kato T, Emi M, Sato H, Arawaka S, Wada M, Kawanami T, Katagiri T, Tsuburaya K et al (2010) Segmental copy-number gain within the region of isopentenyl diphosphate isomerase genes in sporadic amyotrophic lateral sclerosis. Biochem Biophys Res Commun 402(2):438\u2013442. doi: 10.1016\/j.bbrc.2010.10.056","journal-title":"Biochem Biophys Res Commun"},{"issue":"1","key":"393_CR79","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1086\/431652","volume":"77","author":"AJ Sharp","year":"2005","unstructured":"Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA et al (2005) Segmental duplications and copy-number variation in the human genome. Am J Hum Genet 77(1):78\u201388. doi: 10.1086\/431652","journal-title":"Am J Hum Genet"},{"issue":"5","key":"393_CR80","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1093\/hmg\/ddm361","volume":"17","author":"S Cronin","year":"2008","unstructured":"Cronin S, Berger S, Ding J, Schymick JC, Washecka N, Hernandez DG, Greenway MJ, Bradley DG et al (2008) A genome-wide association study of sporadic ALS in a homogenous Irish population. Hum Mol Genet 17(5):768\u2013774. doi: 10.1093\/hmg\/ddm361","journal-title":"Hum Mol Genet"},{"issue":"5859","key":"393_CR81","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1126\/science.319.5859.20","volume":"319","author":"K Garber","year":"2008","unstructured":"Garber K (2008) Genetics. The elusive ALS genes. Science 319(5859):20. doi: 10.1126\/science.319.5859.20","journal-title":"Science"},{"issue":"2","key":"393_CR82","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1016\/j.ajhg.2007.12.009","volume":"82","author":"CR Marshall","year":"2008","unstructured":"Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R et al (2008) Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82(2):477\u2013488. doi: 10.1016\/j.ajhg.2007.12.009","journal-title":"Am J Hum Genet"},{"issue":"9","key":"393_CR83","doi-asserted-by":"publisher","first-page":"1085","DOI":"10.1136\/jnnp.2008.149146","volume":"79","author":"R Del Bo","year":"2008","unstructured":"Del Bo R, Ghezzi S, Corti S, Santoro D, Prelle A, Mancuso M, Siciliano G, Briani C et al (2008) DPP6 gene variability confers increased risk of developing sporadic amyotrophic lateral sclerosis in Italian patients. J Neurol Neurosurg Psychiatry 79(9):1085. doi: 10.1136\/jnnp.2008.149146","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"20","key":"393_CR84","doi-asserted-by":"publisher","first-page":"4091","DOI":"10.1093\/hmg\/ddq323","volume":"19","author":"HM Blauw","year":"2010","unstructured":"Blauw HM, Al-Chalabi A, Andersen PM, van Vught PW, Diekstra FP, van Es MA, Saris CG, Groen EJ et al (2010) A large genome scan for rare CNVs in amyotrophic lateral sclerosis. Hum Mol Genet 19(20):4091\u20134099. doi: 10.1093\/hmg\/ddq323","journal-title":"Hum Mol Genet"},{"issue":"2","key":"393_CR85","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1086\/505653","volume":"79","author":"DP Locke","year":"2006","unstructured":"Locke DP, Sharp AJ, McCarroll SA, McGrath SD, Newman TL, Cheng Z, Schwartz S, Albertson DG et al (2006) Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet 79(2):275\u2013290. doi: 10.1086\/505653","journal-title":"Am J Hum Genet"},{"issue":"4","key":"393_CR86","doi-asserted-by":"publisher","first-page":"967","DOI":"10.1086\/378817","volume":"73","author":"S Rainier","year":"2003","unstructured":"Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK (2003) NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am J Hum Genet 73(4):967\u2013971. doi: 10.1086\/378817","journal-title":"Am J Hum Genet"},{"key":"393_CR87","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1186\/1750-1326-8-28","volume":"8","author":"S Chen","year":"2013","unstructured":"Chen S, Sayana P, Zhang X, Le W (2013) Genetics of amyotrophic lateral sclerosis: an update. Mol Neurodegener 8:28. doi: 10.1186\/1750-1326-8-28","journal-title":"Mol Neurodegener"},{"issue":"11","key":"393_CR88","doi-asserted-by":"publisher","first-page":"2497","DOI":"10.1093\/hmg\/dds064","volume":"21","author":"HM Blauw","year":"2012","unstructured":"Blauw HM, van Rheenen W, Koppers M, Van Damme P, Waibel S, Lemmens R, van Vught PW, Meyer T et al (2012) NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis. Hum Mol Genet 21(11):2497\u20132502. doi: 10.1093\/hmg\/dds064","journal-title":"Hum Mol Genet"},{"issue":"2","key":"393_CR89","doi-asserted-by":"publisher","first-page":"4068","DOI":"10.3390\/ijms16024068","volume":"16","author":"DM Cox","year":"2015","unstructured":"Cox DM, Butler MG (2015) The 15q11.2 BP1-BP2 microdeletion syndrome: a review. Int J Mol Sci 16(2):4068\u20134082. doi: 10.3390\/ijms16024068","journal-title":"Int J Mol Sci"},{"issue":"5","key":"393_CR90","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1016\/j.pnpbp.2004.05.025","volume":"28","author":"J Huot","year":"2004","unstructured":"Huot J (2004) Ephrin signaling in axon guidance. Prog Neuro-Psychopharmacol Biol Psychiatry 28(5):813\u2013818. doi: 10.1016\/j.pnpbp.2004.05.025","journal-title":"Prog Neuro-Psychopharmacol Biol Psychiatry"},{"issue":"5","key":"393_CR91","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1016\/j.ceb.2004.07.002","volume":"16","author":"R Klein","year":"2004","unstructured":"Klein R (2004) Eph\/ephrin signaling in morphogenesis, neural development and plasticity. Curr Opin Cell Biol 16(5):580\u2013589. doi: 10.1016\/j.ceb.2004.07.002","journal-title":"Curr Opin Cell Biol"},{"issue":"4","key":"393_CR92","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1016\/j.pneurobio.2009.05.004","volume":"88","author":"ER Schmidt","year":"2009","unstructured":"Schmidt ER, Pasterkamp RJ, van den Berg LH (2009) Axon guidance proteins: novel therapeutic targets for ALS? Prog Neurobiol 88(4):286\u2013301. doi: 10.1016\/j.pneurobio.2009.05.004","journal-title":"Prog Neurobiol"},{"issue":"2","key":"393_CR93","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1002\/ana.20379","volume":"57","author":"YM Jiang","year":"2005","unstructured":"Jiang YM, Yamamoto M, Kobayashi Y, Yoshihara T, Liang Y, Terao S, Takeuchi H, Ishigaki S et al (2005) Gene expression profile of spinal motor neurons in sporadic amyotrophic lateral sclerosis. Ann Neurol 57(2):236\u2013251. doi: 10.1002\/ana.20379","journal-title":"Ann Neurol"},{"issue":"1","key":"393_CR94","doi-asserted-by":"publisher","first-page":"e1449","DOI":"10.1371\/journal.pone.0001449","volume":"3","author":"TG Lesnick","year":"2008","unstructured":"Lesnick TG, Sorenson EJ, Ahlskog JE, Henley JR, Shehadeh L, Papapetropoulos S, Maraganore DM (2008) Beyond Parkinson disease: amyotrophic lateral sclerosis and the axon guidance pathway. PLoS One 3(1):e1449. doi: 10.1371\/journal.pone.0001449","journal-title":"PLoS One"},{"issue":"9","key":"393_CR95","doi-asserted-by":"publisher","first-page":"1418","DOI":"10.1038\/nm.2901","volume":"18","author":"A Van Hoecke","year":"2012","unstructured":"Van Hoecke A, Schoonaert L, Lemmens R, Timmers M, Staats KA, Laird AS, Peeters E, Philips T et al (2012) EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Nat Med 18(9):1418\u20131422. doi: 10.1038\/nm.2901","journal-title":"Nat Med"},{"issue":"8","key":"393_CR96","doi-asserted-by":"publisher","first-page":"e72381","DOI":"10.1371\/journal.pone.0072381","volume":"8","author":"O Uyan","year":"2013","unstructured":"Uyan O, Omur O, Agim ZS, Ozoguz A, Li H, Parman Y, Deymeer F, Oflazer P et al (2013) Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: deletion of EPHA3 is a possible protective factor. PLoS One 8(8):e72381. doi: 10.1371\/journal.pone.0072381","journal-title":"PLoS One"},{"issue":"14","key":"393_CR97","doi-asserted-by":"publisher","first-page":"1316","DOI":"10.1016\/j.addr.2009.07.016","volume":"61","author":"J Lee","year":"2009","unstructured":"Lee J, Boo JH, Ryu H (2009) The failure of mitochondria leads to neurodegeneration: do mitochondria need a jump start? Adv Drug Deliv Rev 61(14):1316\u20131323. doi: 10.1016\/j.addr.2009.07.016","journal-title":"Adv Drug Deliv Rev"},{"issue":"1","key":"393_CR98","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1016\/j.bbadis.2009.10.007","volume":"1802","author":"PI Moreira","year":"2010","unstructured":"Moreira PI, Zhu X, Wang X, Lee HG, Nunomura A, Petersen RB, Perry G, Smith MA (2010) Mitochondria: a therapeutic target in neurodegeneration. Biochim Biophys Acta 1802(1):212\u2013220. doi: 10.1016\/j.bbadis.2009.10.007","journal-title":"Biochim Biophys Acta"},{"issue":"5","key":"393_CR99","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1002\/1531-8249(199911)46:5<787::AID-ANA17>3.0.CO;2-8","volume":"46","author":"GM Borthwick","year":"1999","unstructured":"Borthwick GM, Johnson MA, Ince PG, Shaw PJ, Turnbull DM (1999) Mitochondrial enzyme activity in amyotrophic lateral sclerosis: implications for the role of mitochondria in neuronal cell death. Ann Neurol 46(5):787\u2013790","journal-title":"Ann Neurol"},{"issue":"2","key":"393_CR100","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/0003-9861(90)90327-U","volume":"280","author":"RA Capaldi","year":"1990","unstructured":"Capaldi RA (1990) Structure and assembly of cytochrome c oxidase. Arch Biochem Biophys 280(2):252\u2013262","journal-title":"Arch Biochem Biophys"},{"issue":"1","key":"393_CR101","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1002\/ana.410430119","volume":"43","author":"GP Comi","year":"1998","unstructured":"Comi GP, Bordoni A, Salani S, Franceschina L, Sciacco M, Prelle A, Fortunato F, Zeviani M et al (1998) Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann Neurol 43(1):110\u2013116. doi: 10.1002\/ana.410430119","journal-title":"Ann Neurol"},{"key":"393_CR102","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1186\/1750-1326-5-21","volume":"5","author":"PM Keeney","year":"2010","unstructured":"Keeney PM, Bennett JP Jr (2010) ALS spinal neurons show varied and reduced mtDNA gene copy numbers and increased mtDNA gene deletions. Mol Neurodegener 5:21. doi: 10.1186\/1750-1326-5-21","journal-title":"Mol Neurodegener"},{"issue":"4","key":"393_CR103","doi-asserted-by":"publisher","first-page":"1030","DOI":"10.1086\/302590","volume":"65","author":"S Rahman","year":"1999","unstructured":"Rahman S, Taanman JW, Cooper JM, Nelson I, Hargreaves I, Meunier B, Hanna MG, Garcia JJ et al (1999) A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. Am J Hum Genet 65(4):1030\u20131039. doi: 10.1086\/302590","journal-title":"Am J Hum Genet"},{"issue":"1","key":"393_CR104","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1093\/hmg\/ddp477","volume":"19","author":"H Yang","year":"2010","unstructured":"Yang H, Brosel S, Acin-Perez R, Slavkovich V, Nishino I, Khan R, Goldberg IJ, Graziano J et al (2010) Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2. Hum Mol Genet 19(1):170\u2013180. doi: 10.1093\/hmg\/ddp477","journal-title":"Hum Mol Genet"},{"issue":"5","key":"393_CR105","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1038\/ng1769","volume":"38","author":"A Bender","year":"2006","unstructured":"Bender A, Krishnan KJ, Morris CM, Taylor GA, Reeve AK, Perry RH, Jaros E, Hersheson JS et al (2006) High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet 38(5):515\u2013517. doi: 10.1038\/ng1769","journal-title":"Nat Genet"},{"issue":"5","key":"393_CR106","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1038\/ng1778","volume":"38","author":"Y Kraytsberg","year":"2006","unstructured":"Kraytsberg Y, Kudryavtseva E, McKee AC, Geula C, Kowall NW, Khrapko K (2006) Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons. Nat Genet 38(5):518\u2013520. doi: 10.1038\/ng1778","journal-title":"Nat Genet"},{"issue":"3","key":"393_CR107","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1038\/ng.f.94","volume":"40","author":"KJ Krishnan","year":"2008","unstructured":"Krishnan KJ, Reeve AK, Samuels DC, Chinnery PF, Blackwood JK, Taylor RW, Wanrooij S, Spelbrink JN et al (2008) What causes mitochondrial DNA deletions in human cells? Nat Genet 40(3):275\u2013279. doi: 10.1038\/ng.f.94","journal-title":"Nat Genet"},{"issue":"6","key":"393_CR108","doi-asserted-by":"publisher","first-page":"1028","DOI":"10.1093\/hmg\/ddn437","volume":"18","author":"H Fukui","year":"2009","unstructured":"Fukui H, Moraes CT (2009) Mechanisms of formation and accumulation of mitochondrial DNA deletions in aging neurons. Hum Mol Genet 18(6):1028\u20131036. doi: 10.1093\/hmg\/ddn437","journal-title":"Hum Mol Genet"},{"issue":"8","key":"393_CR109","doi-asserted-by":"publisher","first-page":"897","DOI":"10.1089\/hum.2009.023","volume":"20","author":"PM Keeney","year":"2009","unstructured":"Keeney PM, Quigley CK, Dunham LD, Papageorge CM, Iyer S, Thomas RR, Schwarz KM, Trimmer PA et al (2009) Mitochondrial gene therapy augments mitochondrial physiology in a Parkinson\u2019s disease cell model. Hum Gene Ther 20(8):897\u2013907. doi: 10.1089\/hum.2009.023","journal-title":"Hum Gene Ther"},{"issue":"12","key":"393_CR110","doi-asserted-by":"publisher","first-page":"e8175","DOI":"10.1371\/journal.pone.0008175","volume":"4","author":"LV Wain","year":"2009","unstructured":"Wain LV, Pedroso I, Landers JE, Breen G, Shaw CE, Leigh PN, Brown RH, Tobin MD et al (2009) The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci. PLoS One 4(12):e8175. doi: 10.1371\/journal.pone.0008175","journal-title":"PLoS One"},{"issue":"4","key":"393_CR111","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1002\/mus.22095","volume":"44","author":"R Pamphlett","year":"2011","unstructured":"Pamphlett R, Morahan JM, Luquin N, Yu B (2011) Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis. Muscle Nerve 44(4):492\u2013498. doi: 10.1002\/mus.22095","journal-title":"Muscle Nerve"},{"issue":"7","key":"393_CR112","doi-asserted-by":"crossref","first-page":"420","DOI":"10.7150\/ijbs.3.420","volume":"3","author":"M Zhu","year":"2007","unstructured":"Zhu M, Zhao S (2007) Candidate gene identification approach: progress and challenges. Int J Biol Sci 3(7):420\u2013427","journal-title":"Int J Biol Sci"},{"issue":"7","key":"393_CR113","doi-asserted-by":"publisher","first-page":"1069","DOI":"10.1038\/cdd.2010.23","volume":"17","author":"RA Knight","year":"2010","unstructured":"Knight RA, Verkhratsky A (2010) Neurodegenerative diseases: failures in brain connectivity? Cell Death Differ 17(7):1069\u20131070. doi: 10.1038\/cdd.2010.23","journal-title":"Cell Death Differ"},{"issue":"5594","key":"393_CR114","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1126\/science.1074069","volume":"298","author":"DJ Selkoe","year":"2002","unstructured":"Selkoe DJ (2002) Alzheimer\u2019s disease is a synaptic failure. Science 298(5594):789\u2013791. doi: 10.1126\/science.1074069","journal-title":"Science"},{"issue":"11","key":"393_CR115","doi-asserted-by":"publisher","first-page":"974","DOI":"10.1016\/S1474-4422(06)70600-7","volume":"5","author":"P Calabresi","year":"2006","unstructured":"Calabresi P, Picconi B, Parnetti L, Di Filippo M (2006) A convergent model for cognitive dysfunctions in Parkinson\u2019s disease: the critical dopamine-acetylcholine synaptic balance. The Lancet Neurology 5(11):974\u2013983. doi: 10.1016\/S1474-4422(06)70600-7","journal-title":"The Lancet Neurology"},{"issue":"11","key":"393_CR116","doi-asserted-by":"publisher","first-page":"1193","DOI":"10.1002\/mus.880161109","volume":"16","author":"RA Maselli","year":"1993","unstructured":"Maselli RA, Wollman RL, Leung C, Distad B, Palombi S, Richman DP, Salazar-Grueso EF, Roos RP (1993) Neuromuscular transmission in amyotrophic lateral sclerosis. Muscle Nerve 16(11):1193\u20131203. doi: 10.1002\/mus.880161109","journal-title":"Muscle Nerve"},{"issue":"21","key":"393_CR117","doi-asserted-by":"publisher","first-page":"3392","DOI":"10.1093\/hmg\/ddn233","volume":"17","author":"S Cronin","year":"2008","unstructured":"Cronin S, Blauw HM, Veldink JH, van Es MA, Ophoff RA, Bradley DG, van den Berg LH, Hardiman O (2008) Analysis of genome-wide copy number variation in Irish and Dutch ALS populations. Hum Mol Genet 17(21):3392\u20133398. doi: 10.1093\/hmg\/ddn233","journal-title":"Hum Mol Genet"},{"key":"393_CR118","doi-asserted-by":"publisher","first-page":"199","DOI":"10.3389\/fncel.2013.00199","volume":"7","author":"MK Jaiswal","year":"2013","unstructured":"Jaiswal MK (2013) Calcium, mitochondria, and the pathogenesis of ALS: the good, the bad, and the ugly. Front Cell Neurosci 7:199. doi: 10.3389\/fncel.2013.00199","journal-title":"Front Cell Neurosci"},{"issue":"4","key":"393_CR119","doi-asserted-by":"publisher","first-page":"392","DOI":"10.3109\/17482960903452283","volume":"11","author":"VK Nwosu","year":"2010","unstructured":"Nwosu VK, Royer JA, Stickler DE (2010) Voltage gated potassium channel antibodies in amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 11(4):392\u2013394. doi: 10.3109\/17482960903452283","journal-title":"Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases"},{"issue":"7","key":"393_CR120","doi-asserted-by":"publisher","first-page":"1587","DOI":"10.1089\/ars.2009.2444","volume":"11","author":"E Foran","year":"2009","unstructured":"Foran E, Trotti D (2009) Glutamate transporters and the excitotoxic path to motor neuron degeneration in amyotrophic lateral sclerosis. Antioxid Redox Signal 11(7):1587\u20131602. doi: 10.1089\/ars.2009.2444","journal-title":"Antioxid Redox Signal"},{"issue":"5","key":"393_CR121","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1007\/s00424-003-1146-4","volume":"447","author":"Y Kanai","year":"2004","unstructured":"Kanai Y, Hediger MA (2004) The glutamate\/neutral amino acid transporter family SLC1: molecular, physiological and pharmacological aspects. Pflugers Archiv : European journal of physiology 447(5):469\u2013479. doi: 10.1007\/s00424-003-1146-4","journal-title":"Pflugers Archiv : European journal of physiology"},{"issue":"24","key":"393_CR122","doi-asserted-by":"publisher","first-page":"2315","DOI":"10.1212\/WNL.0b013e318278b618","volume":"79","author":"FL Conforti","year":"2012","unstructured":"Conforti FL, Spataro R, Sproviero W, Mazzei R, Cavalcanti F, Condino F, Simone IL, Logroscino G et al (2012) Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis. Neurology 79(24):2315\u20132320. doi: 10.1212\/WNL.0b013e318278b618","journal-title":"Neurology"},{"issue":"11","key":"393_CR123","doi-asserted-by":"publisher","first-page":"1445","DOI":"10.1038\/nm.2494","volume":"17","author":"M Cvetanovic","year":"2011","unstructured":"Cvetanovic M, Patel JM, Marti HH, Kini AR, Opal P (2011) Vascular endothelial growth factor ameliorates the ataxic phenotype in a mouse model of spinocerebellar ataxia type 1. Nat Med 17(11):1445\u20131447. doi: 10.1038\/nm.2494","journal-title":"Nat Med"},{"issue":"1","key":"393_CR124","doi-asserted-by":"publisher","first-page":"e83707","DOI":"10.1371\/journal.pone.0083707","volume":"9","author":"G Luksys","year":"2014","unstructured":"Luksys G, Ackermann S, Coynel D, Fastenrath M, Gschwind L, Heck A, Rasch B, Spalek K et al (2014) BAIAP2 is related to emotional modulation of human memory strength. PLoS One 9(1):e83707. doi: 10.1371\/journal.pone.0083707","journal-title":"PLoS One"},{"key":"393_CR125","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1016\/j.nbd.2014.12.004","volume":"74","author":"M Milanese","year":"2015","unstructured":"Milanese M, Bonifacino T, Fedele E, Rebosio C, Cattaneo L, Benfenati F, Usai C, Bonanno G (2015) Exocytosis regulates trafficking of GABA and glycine heterotransporters in spinal cord glutamatergic synapses: a mechanism for the excessive heterotransporter-induced release of glutamate in experimental amyotrophic lateral sclerosis. Neurobiol Dis 74:314\u2013324. doi: 10.1016\/j.nbd.2014.12.004","journal-title":"Neurobiol Dis"},{"issue":"16","key":"393_CR126","doi-asserted-by":"publisher","first-page":"2183","DOI":"10.1101\/gad.1436506","volume":"20","author":"BE Riley","year":"2006","unstructured":"Riley BE, Orr HT (2006) Polyglutamine neurodegenerative diseases and regulation of transcription: assembling the puzzle. Genes Dev 20(16):2183\u20132192. doi: 10.1101\/gad.1436506","journal-title":"Genes Dev"},{"key":"393_CR127","doi-asserted-by":"publisher","first-page":"243","DOI":"10.3389\/fncel.2013.00243","volume":"7","author":"R Lazo-Gomez","year":"2013","unstructured":"Lazo-Gomez R, Ramirez-Jarquin UN, Tovar YRLB, Tapia R (2013) Histone deacetylases and their role in motor neuron degeneration. Front Cell Neurosci 7:243. doi: 10.3389\/fncel.2013.00243","journal-title":"Front Cell Neurosci"},{"issue":"12","key":"393_CR128","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1093\/hmg\/ddi168","volume":"14","author":"W Feng","year":"2005","unstructured":"Feng W, Gubitz AK, Wan L, Battle DJ, Dostie J, Golembe TJ, Dreyfuss G (2005) Gemins modulate the expression and activity of the SMN complex. Hum Mol Genet 14(12):1605\u20131611. doi: 10.1093\/hmg\/ddi168","journal-title":"Hum Mol Genet"},{"issue":"6","key":"393_CR129","doi-asserted-by":"publisher","first-page":"918","DOI":"10.1016\/j.cell.2010.02.016","volume":"140","author":"CK Glass","year":"2010","unstructured":"Glass CK, Saijo K, Winner B, Marchetto MC, Gage FH (2010) Mechanisms underlying inflammation in neurodegeneration. Cell 140(6):918\u2013934. doi: 10.1016\/j.cell.2010.02.016","journal-title":"Cell"},{"issue":"3","key":"393_CR130","doi-asserted-by":"crossref","first-page":"246","DOI":"10.2174\/156652411795243450","volume":"11","author":"PA McCombe","year":"2011","unstructured":"McCombe PA, Henderson RD (2011) The role of immune and inflammatory mechanisms in ALS. Curr Mol Med 11(3):246\u2013254","journal-title":"Curr Mol Med"},{"issue":"6","key":"393_CR131","doi-asserted-by":"publisher","first-page":"934","DOI":"10.1212\/01.wnl.0000176032.94434.d4","volume":"65","author":"EF Goodall","year":"2005","unstructured":"Goodall EF, Greenway MJ, van Marion I, Carroll CB, Hardiman O, Morrison KE (2005) Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS. Neurology 65(6):934\u2013937. doi: 10.1212\/01.wnl.0000176032.94434.d4","journal-title":"Neurology"},{"issue":"1-2","key":"393_CR132","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1016\/j.jns.2012.02.029","volume":"317","author":"J Praline","year":"2012","unstructured":"Praline J, Blasco H, Vourc\u2019h P, Rat V, Gendrot C, Camu W, Andres CR, French ALSSG (2012) Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis. J Neurol Sci 317(1-2):58\u201361. doi: 10.1016\/j.jns.2012.02.029","journal-title":"J Neurol Sci"},{"issue":"4 Suppl","key":"393_CR133","first-page":"181","volume":"16","author":"MT Carri","year":"2001","unstructured":"Carri MT, Ferri A, Casciati A, Celsi F, Ciriolo MR, Rotilio G (2001) Copper-dependent oxidative stress, alteration of signal transduction and neurodegeneration in amyotrophic lateral sclerosis. Funct Neurol 16(4 Suppl):181\u2013188","journal-title":"Funct Neurol"},{"issue":"1","key":"393_CR134","doi-asserted-by":"publisher","first-page":"135","DOI":"10.3233\/JAD-131280","volume":"40","author":"A Gerschutz","year":"2014","unstructured":"Gerschutz A, Heinsen H, Grunblatt E, Wagner AK, Bartl J, Meissner C, Fallgatter AJ, Al-Sarraj S et al (2014) Neuron-specific alterations in signal transduction pathways associated with Alzheimer\u2019s disease. Journal of Alzheimer\u2019s disease : JAD 40(1):135\u2013142. doi: 10.3233\/JAD-131280","journal-title":"Journal of Alzheimer\u2019s disease : JAD"},{"issue":"2","key":"393_CR135","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.brainres.2003.09.047","volume":"994","author":"YH Chung","year":"2003","unstructured":"Chung YH, Joo KM, Shin CM, Lee YJ, Shin DH, Lee KH, Cha CI (2003) Immunohistochemical study on the distribution of insulin-like growth factor I (IGF-I) receptor in the central nervous system of SOD1(G93A) mutant transgenic mice. Brain Res 994(2):253\u2013259","journal-title":"Brain Res"},{"issue":"22","key":"393_CR136","doi-asserted-by":"publisher","first-page":"4528","DOI":"10.1093\/hmg\/ddt300","volume":"22","author":"M Renna","year":"2013","unstructured":"Renna M, Bento CF, Fleming A, Menzies FM, Siddiqi FH, Ravikumar B, Puri C, Garcia-Arencibia M et al (2013) IGF-1 receptor antagonism inhibits autophagy. Hum Mol Genet 22(22):4528\u20134544. doi: 10.1093\/hmg\/ddt300","journal-title":"Hum Mol Genet"},{"issue":"11","key":"393_CR137","doi-asserted-by":"publisher","first-page":"1292","DOI":"10.1007\/s10495-010-0466-z","volume":"15","author":"Q Huang","year":"2010","unstructured":"Huang Q, Figueiredo-Pereira ME (2010) Ubiquitin\/proteasome pathway impairment in neurodegeneration: therapeutic implications. Apoptosis: an international journal on programmed cell death 15(11):1292\u20131311. doi: 10.1007\/s10495-010-0466-z","journal-title":"Apoptosis: an international journal on programmed cell death"},{"issue":"2","key":"393_CR138","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1016\/j.jneumeth.2011.02.028","volume":"197","author":"R Pamphlett","year":"2011","unstructured":"Pamphlett R, Morahan JM, Yu B (2011) Using case-parent trios to look for rare de novo genetic variants in adult-onset neurodegenerative diseases. J Neurosci Methods 197(2):297\u2013301. doi: 10.1016\/j.jneumeth.2011.02.028","journal-title":"J Neurosci Methods"},{"issue":"4","key":"393_CR139","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1016\/S1474-4422(07)70037-6","volume":"6","author":"JC Schymick","year":"2007","unstructured":"Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, Gibbs JR, Lombardo F, Matarin M et al (2007) Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. The Lancet Neurology 6(4):322\u2013328. doi: 10.1016\/S1474-4422(07)70037-6","journal-title":"The Lancet Neurology"},{"issue":"5979","key":"393_CR140","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1126\/science.1186088","volume":"328","author":"S Peleg","year":"2010","unstructured":"Peleg S, Sananbenesi F, Zovoilis A, Burkhardt S, Bahari-Javan S, Agis-Balboa RC, Cota P, Wittnam JL et al (2010) Altered histone acetylation is associated with age-dependent memory impairment in mice. Science 328(5979):753\u2013756. doi: 10.1126\/science.1186088","journal-title":"Science"},{"issue":"1","key":"393_CR141","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/s13619-015-0019-6","volume":"4","author":"ST Ngo","year":"2015","unstructured":"Ngo ST, Steyn FJ (2015) The interplay between metabolic homeostasis and neurodegeneration: insights into the neurometabolic nature of amyotrophic lateral sclerosis. Cell regeneration 4(1):5. doi: 10.1186\/s13619-015-0019-6","journal-title":"Cell regeneration"},{"issue":"6","key":"393_CR142","doi-asserted-by":"publisher","first-page":"2569","DOI":"10.1167\/iovs.05-0261","volume":"47","author":"W Guo","year":"2006","unstructured":"Guo W, Shang F, Liu Q, Urim L, Zhang M, Taylor A (2006) Ubiquitin-proteasome pathway function is required for lens cell proliferation and differentiation. Invest Ophthalmol Vis Sci 47(6):2569\u20132575. doi: 10.1167\/iovs.05-0261","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"1","key":"393_CR143","doi-asserted-by":"publisher","first-page":"1385","DOI":"10.3390\/ijms16011385","volume":"16","author":"M Serpente","year":"2015","unstructured":"Serpente M, Fenoglio C, Cioffi SM, Bonsi R, Arighi A, Fumagalli GG, Ghezzi L, Scarpini E et al (2015) Profiling of ubiquitination pathway genes in peripheral cells from patients with frontotemporal dementia due to C9ORF72 and GRN mutations. Int J Mol Sci 16(1):1385\u20131394. doi: 10.3390\/ijms16011385","journal-title":"Int J Mol Sci"},{"key":"393_CR144","doi-asserted-by":"publisher","first-page":"216","DOI":"10.3389\/fncel.2013.00216","volume":"7","author":"GP Oliveira de","year":"2013","unstructured":"de Oliveira GP, Alves CJ, Chadi G (2013) Early gene expression changes in spinal cord from SOD1(G93A) amyotrophic lateral sclerosis animal model. Front Cell Neurosci 7:216. doi: 10.3389\/fncel.2013.00216","journal-title":"Front Cell Neurosci"},{"issue":"4","key":"393_CR145","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1016\/S1474-4422(08)70048-6","volume":"7","author":"HM Blauw","year":"2008","unstructured":"Blauw HM, Veldink JH, van Es MA, van Vught PW, Saris CG, van der Zwaag B, Franke L, Burbach JP et al (2008) Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen. The Lancet Neurology 7(4):319\u2013326. doi: 10.1016\/S1474-4422(08)70048-6","journal-title":"The Lancet Neurology"},{"issue":"17","key":"393_CR146","doi-asserted-by":"publisher","first-page":"9768","DOI":"10.1073\/pnas.1333958100","volume":"100","author":"Y Mochizuki","year":"2003","unstructured":"Mochizuki Y, Majerus PW (2003) Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9. Proc Natl Acad Sci U S A 100(17):9768\u20139773. doi: 10.1073\/pnas.1333958100","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"2","key":"393_CR147","doi-asserted-by":"publisher","first-page":"346","DOI":"10.1016\/j.nbd.2011.04.003","volume":"43","author":"G D\u2019Alessandro","year":"2011","unstructured":"D\u2019Alessandro G, Calcagno E, Tartari S, Rizzardini M, Invernizzi RW, Cantoni L (2011) Glutamate and glutathione interplay in a motor neuronal model of amyotrophic lateral sclerosis reveals altered energy metabolism. Neurobiol Dis 43(2):346\u2013355. doi: 10.1016\/j.nbd.2011.04.003","journal-title":"Neurobiol Dis"},{"key":"393_CR148","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1016\/j.neulet.2014.04.020","volume":"570","author":"N Weiduschat","year":"2014","unstructured":"Weiduschat N, Mao X, Hupf J, Armstrong N, Kang G, Lange DJ, Mitsumoto H, Shungu DC (2014) Motor cortex glutathione deficit in ALS measured in vivo with the J-editing technique. Neurosci Lett 570:102\u2013107. doi: 10.1016\/j.neulet.2014.04.020","journal-title":"Neurosci Lett"},{"issue":"4","key":"393_CR149","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1046\/j.0305-1846.2001.00332.x","volume":"27","author":"S Sathasivam","year":"2001","unstructured":"Sathasivam S, Ince PG, Shaw PJ (2001) Apoptosis in amyotrophic lateral sclerosis: a review of the evidence. Neuropathol Appl Neurobiol 27(4):257\u2013274","journal-title":"Neuropathol Appl Neurobiol"},{"issue":"36","key":"393_CR150","doi-asserted-by":"publisher","first-page":"14489","DOI":"10.1073\/pnas.0701311104","volume":"104","author":"M Komatsu","year":"2007","unstructured":"Komatsu M, Wang QJ, Holstein GR, Friedrich VL Jr, Iwata J, Kominami E, Chait BT, Tanaka K et al (2007) Essential role for autophagy protein Atg7 in the maintenance of axonal homeostasis and the prevention of axonal degeneration. Proc Natl Acad Sci U S A 104(36):14489\u201314494. doi: 10.1073\/pnas.0701311104","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"5","key":"393_CR151","first-page":"602","volume":"25","author":"S Han","year":"2004","unstructured":"Han S, Zhang KH, Lu PH, Xu XM (2004) Effects of annexins II and V on survival of neurons and astrocytes in vitro. Acta Pharmacol Sin 25(5):602\u2013610","journal-title":"Acta Pharmacol Sin"},{"issue":"Pt 9","key":"393_CR152","doi-asserted-by":"publisher","first-page":"2292","DOI":"10.1093\/brain\/awm055","volume":"130","author":"D Kasperaviciute","year":"2007","unstructured":"Kasperaviciute D, Weale ME, Shianna KV, Banks GT, Simpson CL, Hansen VK, Turner MR, Shaw CE et al (2007) Large-scale pathways-based association study in amyotrophic lateral sclerosis. Brain: a journal of neurology 130(Pt 9):2292\u20132301. doi: 10.1093\/brain\/awm055","journal-title":"Brain: a journal of neurology"},{"issue":"1","key":"393_CR153","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.bbcan.2005.08.002","volume":"1756","author":"ZJ Liu","year":"2005","unstructured":"Liu ZJ, Lu X, Zhong S (2005) ASPP\u2014apoptotic specific regulator of p53. Biochim Biophys Acta 1756(1):77\u201380. doi: 10.1016\/j.bbcan.2005.08.002","journal-title":"Biochim Biophys Acta"},{"issue":"4","key":"393_CR154","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1038\/ejhg.2009.192","volume":"18","author":"MH Willemsen","year":"2010","unstructured":"Willemsen MH, Fernandez BA, Bacino CA, Gerkes E, de Brouwer AP, Pfundt R, Sikkema-Raddatz B, Scherer SW et al (2010) Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. European journal of human genetics : EJHG 18(4):429\u2013435. doi: 10.1038\/ejhg.2009.192","journal-title":"European journal of human genetics : EJHG"},{"key":"393_CR155","doi-asserted-by":"publisher","first-page":"11","DOI":"10.2174\/1874375701004010011","volume":"4","author":"S Ranganathan","year":"2010","unstructured":"Ranganathan S, Bowser R (2010) p53 and cell cycle proteins participate in spinal motor neuron cell death in ALS. The open pathology journal 4:11\u201322. doi: 10.2174\/1874375701004010011","journal-title":"The open pathology journal"},{"issue":"9","key":"393_CR156","doi-asserted-by":"publisher","first-page":"1022","DOI":"10.1038\/sj.onc.1204210","volume":"20","author":"M Tomomura","year":"2001","unstructured":"Tomomura M, Fernandez-Gonzales A, Yano R, Yuzaki M (2001) Characterization of the apoptosis-associated tyrosine kinase (AATYK) expressed in the CNS. Oncogene 20(9):1022\u20131032. doi: 10.1038\/sj.onc.1204210","journal-title":"Oncogene"},{"key":"393_CR157","doi-asserted-by":"publisher","first-page":"61","DOI":"10.3389\/fncel.2014.00061","volume":"8","author":"YRLB Tovar","year":"2014","unstructured":"Tovar YRLB, Ramirez-Jarquin UN, Lazo-Gomez R, Tapia R (2014) Trophic factors as modulators of motor neuron physiology and survival: implications for ALS therapy. Front Cell Neurosci 8:61. doi: 10.3389\/fncel.2014.00061","journal-title":"Front Cell Neurosci"},{"issue":"12","key":"393_CR158","doi-asserted-by":"publisher","first-page":"3481","DOI":"10.1093\/hmg\/ddv099","volume":"24","author":"M Achour","year":"2015","unstructured":"Achour M, Le Gras S, Keime C, Parmentier F, Lejeune FX, Boutillier AL, Neri C, Davidson I et al (2015) Neuronal identity genes regulated by super-enhancers are preferentially down-regulated in the striatum of Huntington\u2019s disease mice. Hum Mol Genet 24(12):3481\u20133496. doi: 10.1093\/hmg\/ddv099","journal-title":"Hum Mol Genet"},{"issue":"12","key":"393_CR159","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/S0166-2236(00)01705-7","volume":"23","author":"MF Mehler","year":"2000","unstructured":"Mehler MF, Gokhan S (2000) Mechanisms underlying neural cell death in neurodegenerative diseases: alterations of a developmentally-mediated cellular rheostat. Trends Neurosci 23(12):599\u2013605","journal-title":"Trends Neurosci"},{"issue":"1","key":"393_CR160","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/j.devcel.2014.11.031","volume":"32","author":"D Gallagher","year":"2015","unstructured":"Gallagher D, Voronova A, Zander MA, Cancino GI, Bramall A, Krause MP, Abad C, Tekin M et al (2015) Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. Dev Cell 32(1):31\u201342. doi: 10.1016\/j.devcel.2014.11.031","journal-title":"Dev Cell"},{"issue":"3","key":"393_CR161","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1128\/MCB.20.3.1030-1043.2000","volume":"20","author":"N Kelkar","year":"2000","unstructured":"Kelkar N, Gupta S, Dickens M, Davis RJ (2000) Interaction of a mitogen-activated protein kinase signaling module with the neuronal protein JIP3. Mol Cell Biol 20(3):1030\u20131043","journal-title":"Mol Cell Biol"},{"issue":"1-2","key":"393_CR162","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1089\/omi.2011.0054","volume":"16","author":"P Hallock","year":"2012","unstructured":"Hallock P, Thomas MA (2012) Integrating the Alzheimer\u2019s disease proteome and transcriptome: a comprehensive network model of a complex disease. Omics: a journal of integrative biology 16(1-2):37\u201349. doi: 10.1089\/omi.2011.0054","journal-title":"Omics: a journal of integrative biology"},{"issue":"5","key":"393_CR163","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1083\/jcb.201103153","volume":"194","author":"AS Ghosh","year":"2011","unstructured":"Ghosh AS, Wang B, Pozniak CD, Chen M, Watts RJ, Lewcock JW (2011) DLK induces developmental neuronal degeneration via selective regulation of proapoptotic JNK activity. J Cell Biol 194(5):751\u2013764. doi: 10.1083\/jcb.201103153","journal-title":"J Cell Biol"},{"issue":"12","key":"393_CR164","doi-asserted-by":"publisher","first-page":"9057","DOI":"10.3390\/ijms12129057","volume":"12","author":"KY Soo","year":"2011","unstructured":"Soo KY, Farg M, Atkin JD (2011) Molecular motor proteins and amyotrophic lateral sclerosis. Int J Mol Sci 12(12):9057\u20139082. doi: 10.3390\/ijms12129057","journal-title":"Int J Mol Sci"},{"issue":"3","key":"393_CR165","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1080\/17482960802535001","volume":"10","author":"SA Shoichet","year":"2009","unstructured":"Shoichet SA, Waibel S, Endruhn S, Sperfeld AD, Vorwerk B, Muller I, Erdogan F, Ludolph AC et al (2009) Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization. Amyotrophic lateral sclerosis: official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 10(3):162\u2013169. doi: 10.1080\/17482960802535001","journal-title":"Amyotrophic lateral sclerosis: official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases"},{"issue":"15","key":"393_CR166","doi-asserted-by":"publisher","first-page":"1850","DOI":"10.1007\/s00018-004-4196-7","volume":"61","author":"I Marty","year":"2004","unstructured":"Marty I (2004) Triadin: a multi-protein family for which purpose? Cellular and molecular life sciences : CMLS 61(15):1850\u20131853. doi: 10.1007\/s00018-004-4196-7","journal-title":"Cellular and molecular life sciences : CMLS"},{"issue":"3","key":"393_CR167","doi-asserted-by":"publisher","first-page":"e9872","DOI":"10.1371\/journal.pone.0009872","volume":"5","author":"LE Cox","year":"2010","unstructured":"Cox LE, Ferraiuolo L, Goodall EF, Heath PR, Higginbottom A, Mortiboys H, Hollinger HC, Hartley JA et al (2010) Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). PLoS One 5(3):e9872. doi: 10.1371\/journal.pone.0009872","journal-title":"PLoS One"},{"issue":"3","key":"393_CR168","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1046\/j.1440-1711.1999.00816.x","volume":"77","author":"H Naora","year":"1999","unstructured":"Naora H (1999) Involvement of ribosomal proteins in regulating cell growth and apoptosis: translational modulation or recruitment for extraribosomal activity? Immunol Cell Biol 77(3):197\u2013205. doi: 10.1046\/j.1440-1711.1999.00816.x","journal-title":"Immunol Cell Biol"},{"key":"393_CR169","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2015.01.030","author":"H Antonicka","year":"2015","unstructured":"Antonicka H, Shoubridge EA (2015) Mitochondrial RNA granules are centers for posttranscriptional RNA processing and ribosome biogenesis. Cell Rep. doi: 10.1016\/j.celrep.2015.01.030","journal-title":"Cell Rep"},{"issue":"31","key":"393_CR170","doi-asserted-by":"publisher","first-page":"25927","DOI":"10.1074\/jbc.M112.377465","volume":"287","author":"L Zhou","year":"2012","unstructured":"Zhou L, Barao S, Laga M, Bockstael K, Borgers M, Gijsen H, Annaert W, Moechars D et al (2012) The neural cell adhesion molecules L1 and CHL1 are cleaved by BACE1 protease in vivo. J Biol Chem 287(31):25927\u201325940. doi: 10.1074\/jbc.M112.377465","journal-title":"J Biol Chem"},{"issue":"5","key":"393_CR171","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1016\/j.cell.2004.11.020","volume":"119","author":"MF Nolan","year":"2004","unstructured":"Nolan MF, Malleret G, Dudman JT, Buhl DL, Santoro B, Gibbs E, Vronskaya S, Buzsaki G et al (2004) A behavioral role for dendritic integration: HCN1 channels constrain spatial memory and plasticity at inputs to distal dendrites of CA1 pyramidal neurons. Cell 119(5):719\u2013732. doi: 10.1016\/j.cell.2004.11.020","journal-title":"Cell"},{"issue":"9","key":"393_CR172","doi-asserted-by":"publisher","first-page":"564","DOI":"10.1038\/nrn3983","volume":"16","author":"FK Wiseman","year":"2015","unstructured":"Wiseman FK, Al-Janabi T, Hardy J, Karmiloff-Smith A, Nizetic D, Tybulewicz VL, Fisher EM, Strydom A (2015) A genetic cause of Alzheimer disease: mechanistic insights from down syndrome. Nat Rev Neurosci 16(9):564\u2013574. doi: 10.1038\/nrn3983","journal-title":"Nat Rev Neurosci"},{"key":"393_CR173","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1016\/j.neuroscience.2013.06.034","volume":"248","author":"B Ansoleaga","year":"2013","unstructured":"Ansoleaga B, Garcia-Esparcia P, Llorens F, Moreno J, Aso E, Ferrer I (2013) Dysregulation of brain olfactory and taste receptors in AD, PSP and CJD, and AD-related model. Neuroscience 248:369\u2013382. doi: 10.1016\/j.neuroscience.2013.06.034","journal-title":"Neuroscience"},{"issue":"6","key":"393_CR174","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1097\/NEN.0b013e318294fd76","volume":"72","author":"P Garcia-Esparcia","year":"2013","unstructured":"Garcia-Esparcia P, Schluter A, Carmona M, Moreno J, Ansoleaga B, Torrejon-Escribano B, Gustincich S, Pujol A et al (2013) Functional genomics reveals dysregulation of cortical olfactory receptors in Parkinson disease: novel putative chemoreceptors in the human brain. J Neuropathol Exp Neurol 72(6):524\u2013539. doi: 10.1097\/NEN.0b013e318294fd76","journal-title":"J Neuropathol Exp Neurol"}],"container-title":["Molecular Neurobiology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12035-017-0393-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12035-017-0393-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12035-017-0393-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,17]],"date-time":"2019-09-17T18:47:30Z","timestamp":1568746050000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12035-017-0393-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,24]]},"references-count":174,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["393"],"URL":"https:\/\/doi.org\/10.1007\/s12035-017-0393-x","relation":{},"ISSN":["0893-7648","1559-1182"],"issn-type":[{"value":"0893-7648","type":"print"},{"value":"1559-1182","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,24]]}}}