Amyotrophic lateral sclerosis: update and new developments

References

• WijesekeraLCLeighPNAmyotrophic lateral sclerosisOrphanet J Rare Dis20094319192301
   PubMed Web of Science ®Google Scholar
• DengHXHentatiATainerJAAmyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutaseScience19932615124104710518351519
   PubMed Web of Science ®Google Scholar
• RosenDRSiddiqueTPattersonDMutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosisNature1993362641559628446170
   PubMed Web of Science ®Google Scholar
• Del BoRTilocaCPensatoVNovel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosisJ Neurol Neurosurg Psychiatry201182111239124321613650
   PubMed Web of Science ®Google Scholar
• StrongMJThe evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS)J Neurol Sci20102881–211219840884
   PubMed Web of Science ®Google Scholar
• DengHXChenWHongSTMutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementiaNature2011477736321121521857683
   PubMed Web of Science ®Google Scholar
• DaoudHRouleauGAA role for ubiquilin 2 mutations in neurodegenerationNat Rev Neurol201171159960021989241
   PubMed Web of Science ®Google Scholar
• DeJesus-HernandezMMackenzieIRBoeveBFExpanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALSNeuron201172224525621944778
   PubMed Web of Science ®Google Scholar
• RentonAEMajounieEWaiteAA hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-Linked ALS-FTDNeuron201172224526821944778
   PubMed Web of Science ®Google Scholar
• WoodHA hexanucleotide repeat expansion in C9ORF72 links amyotrophic lateral sclerosis and frontotemporal dementiaNat Rev Neurol201171159522009283
   PubMedGoogle Scholar
• MillerRGMitchellJDLyonMMooreDHRiluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND)Cochrane Database Syst Rev20071CD00144717253460
   PubMed Web of Science ®Google Scholar
• SathasivamSMotor neurondisease: clinical features, diagnosis, diagnostic pitfalls and prognostic markersSingapore Med J201051536737320593140
   PubMed Web of Science ®Google Scholar
• ByrneSCHardimanORate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysisNeurology2010749A56
   Web of Science ®Google Scholar
• ConwitRAPreventing familial ALS: a clinical trial may be feasible but is an efficacy trial warranted?J Neurol Sci20062511–21217070848
   PubMed Web of Science ®Google Scholar
• HaberlandtWFGenetic aspects of amyotrophic lateral sclerosis and progressive bulbar paralysisActa Genet Med Gemellol (Roma)1959836937413830663
   PubMedGoogle Scholar
• MurrosKFogelholmRAmyotrophic lateral sclerosis in Middle-Finland: an epidemiological studyActa Neurol Scand198367141476601351
   PubMed Web of Science ®Google Scholar
• WilliamsDBFloateDALeicesterJFamilial motor neuron disease: differing penetrance in large pedigreesJ Neurol Sci1988862–32152303221241
   PubMed Web of Science ®Google Scholar
• AndersenPMAl-ChalabiAClinical genetics of amyotrophic lateral sclerosis: what do we really know?Nat Rev Neurol201171160361521989245
   PubMed Web of Science ®Google Scholar
• AndersenPMAmyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase geneCurr Neurol Neurosci Rep200661374616469270
   PubMed Web of Science ®Google Scholar
• TraynorBJCoddMBCorrBFordeCFrostEHardimanOAmyotrophic lateral sclerosis mimic syndromes: a population-based studyArch Neurol200057110911310634456
   PubMedGoogle Scholar
• MulderDWKurlandLTOffordKPBeardCMFamilial adult motor neuron disease: amyotrophic lateral sclerosisNeurology19863645115173960325
   PubMed Web of Science ®Google Scholar
• LiTMAlbermanESwashMComparison of sporadic and familial disease amongst 580 cases of motor neuron diseaseJ Neurol Neurosurg Psychiatry19885167787843404186
   PubMed Web of Science ®Google Scholar
• JohnstonCAStantonBRTurnerMRAmyotrophic lateral sclerosis in an urban setting: a population based study of inner city LondonJ Neurol2006253121642164317219036
   PubMed Web of Science ®Google Scholar
• WormsPMThe epidemiology of motor neuron diseases: a review of recent studiesJ Neurol Sci20011911–23911676986
   PubMed Web of Science ®Google Scholar
• ChioABenziGDossenaMMutaniRMoraGSeverely increased risk of amyotrophic lateral sclerosis among Italian professional football playersBrain2005128Pt 347247615634730
   PubMed Web of Science ®Google Scholar
• HornerRDGrambowSCCoffmanCJAmyotrophic lateral sclerosis among 1991 Gulf War veterans: evidence for a time-limited outbreakNeuroepidemiology2008311283218535397
   PubMed Web of Science ®Google Scholar
• WangHO’ReillyEJWeisskopfMGSmoking and risk of amyotrophic lateral sclerosis: a pooled analysis of 5 prospective cohortsArch Neurol201168220721321320987
   PubMedGoogle Scholar
• AbhinavKStantonBJohnstonCAmyotrophic lateral sclerosis in South-East England: a population-based study. The South-East England register for amyotrophic lateral sclerosis (SEALS Registry)Neuroepidemiology2007291–2444817898523
   PubMed Web of Science ®Google Scholar
• VivekanandaUManjalayZRGanesalingamJLow index-to-ring finger length ratio in sporadic ALS supports prenatally defined motor neuronal vulnerabilityJ Neurol Neurosurg Psychiatry201182663563721551173
   PubMed Web of Science ®Google Scholar
• ManningJTScuttDWilsonJLewis-JonesDIThe ratio of 2nd to 4th digit length: a predictor of sperm numbers and concentrations of testosterone, luteinizing hormone and oestrogenHum Reprod19981311300030049853845
   PubMed Web of Science ®Google Scholar
• BerenbaumSABrykKKNowakNQuigleyCAMoffatSFingers as a marker of prenatal androgen exposureEndocrinology2009150115119512419819951
   PubMed Web of Science ®Google Scholar
• ChioACalvoADossenaMGhiglionePMutaniRMoraGALS in Italian professional soccer players: the risk is still present and could be soccer-specificAmyotroph Lateral Scler200910420520919267274
   PubMed Web of Science ®Google Scholar
• AbelELFootball increases the risk for Lou Gehrig’s disease, amyotrophic lateral sclerosisPercept Mot Skills20071043 Pt 21251125417879657
   PubMed Web of Science ®Google Scholar
• PaganoniSDengJJaffaMCudkowiczMEWillisAMBody mass index, not dyslipidemia, is an independent predictor of survival in amyotrophic lateral sclerosisMuscle Nerve2011441202421607987
   PubMed Web of Science ®Google Scholar
• HardimanOvan den BergLHKiernanMCClinical diagnosis and management of amyotrophic lateral sclerosisNat Rev Neurol201171163964921989247
   PubMed Web of Science ®Google Scholar
• Lomen-HoerthCAmyotrophic lateral sclerosis from bench to bedsideSemin Neurol200828220521118351522
   PubMed Web of Science ®Google Scholar
• CristiniJMisdiagnosis and missed diagnoses in patients with ALSJAAPA2006197293516869150
   PubMedGoogle Scholar
• KiernanMCVucicSCheahBCAmyotrophic lateral sclerosisLancet2011377976994295521296405
   PubMed Web of Science ®Google Scholar
• ForbesRBColvilleSSwinglerRJThe epidemiology of amyotrophic lateral sclerosis (ALS/MND) in people aged 80 or overAge Ageing200433213113414960427
   PubMed Web of Science ®Google Scholar
• McCombePAHendersonRDEffects of gender in amyotrophic lateral sclerosisGend Med20107655757021195356
   PubMedGoogle Scholar
• AndersenPMBorasioGDDenglerREFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relativesEur J Neurol2005121292193816324086
   PubMed Web of Science ®Google Scholar
• de CarvalhoMDenglerREisenAElectrodiagnostic criteria for diagnosis of ALSClin Neurophysiol2008119349750318164242
   PubMed Web of Science ®Google Scholar
• TalbotKMotor neuron disease: the bare essentialsPract Neurol20099530330919762894
   PubMedGoogle Scholar
• DabbyRLangeDJTrojaborgWInclusion body myositis mimicking motor neuron diseaseArch Neurol20015881253125611493165
   PubMedGoogle Scholar
• WeihlCCLopateGMotor neuron disease associated with copper deficiencyMuscle Nerve200634678979316929546
   PubMed Web of Science ®Google Scholar
• SilaniVMessinaSPolettiBThe diagnosis of amyotrophic lateral sclerosis in 2010Arch Ital Biol2011149152721412713
   PubMed Web of Science ®Google Scholar
• ChioAISIS Survey: an international study on the diagnostic process and its implications in amyotrophic lateral sclerosisJ Neurol1999246Suppl 3III1III510631652
   PubMedGoogle Scholar
• DavenportRJSwinglerRJChancellorAMWarlowCPAvoiding false positive diagnoses of motor neuron disease: lessons from the Scottish Motor Neuron Disease RegisterJ Neurol Neurosurg Psychiatry19966021471518708642
   PubMed Web of Science ®Google Scholar
• LudolphACKnirschUProblems and pitfalls in the diagnosis of ALSJ Neurol Sci1999165Suppl 1S14S2010448976
   PubMed Web of Science ®Google Scholar
• RozenSCudkowiczMEBogdanovMMetabolomic analysis and signatures in motor neuron diseaseMetabolomics20051210110818820733
   PubMed Web of Science ®Google Scholar
• OkamotoKMizunoYFujitaYBunina bodies in amyotrophic lateral sclerosisNeuropathology200828210911518069968
   PubMed Web of Science ®Google Scholar
• LeighPNWhitwellHGarofaloOUbiquitin-immunoreactive intraneuronal inclusions in amyotrophic lateral sclerosis. Morphology, distribution, and specificityBrain1991114Pt 27757881646064
   PubMed Web of Science ®Google Scholar
• PlaitakisACaroscioJTAbnormal glutamate metabolism in amyotrophic lateral sclerosisAnn Neurol19872255755792892463
   PubMed Web of Science ®Google Scholar
• BarbeitoLHPeharMCassinaPA role for astrocytes in motor neuron loss in amyotrophic lateral sclerosisBrain Res Brain Res Rev2004471–326327415572176
   PubMedGoogle Scholar
• BarbosaLFCerqueiraFMMacedoAFIncreased SOD1 association with chromatin, DNA damage, p53 activation, and apoptosis in a cellular model of SOD1-linked ALSBiochim Biophys Acta20101802546247120097285
   PubMed Web of Science ®Google Scholar
• BilslandLGSahaiEKellyGGoldingMGreensmithLSchiavoGDeficits in axonal transport precede ALS symptoms in vivoProc Natl Acad Sci U S A201010747205232052821059924
   PubMed Web of Science ®Google Scholar
• KingAEDicksonTCBlizzardCANeuron-glia interactions underlie ALS-like axonal cytoskeletal pathologyNeurobiol Aging201132345946919427060
   PubMed Web of Science ®Google Scholar
• ZhuHNShiPWeiYMZhangJYGalJMitochondrial dysfunction is a converging point of multiple pathological pathways in amyotrophic lateral sclerosisJ Alzheimers Dis201020Suppl 2S311S32420463400
   PubMed Web of Science ®Google Scholar
• Miana-MenaFJGonzalez-MingotCLarrodePMonitoring systemic oxidative stress in an animal model of amyotrophic lateral sclerosisJ Neurol2011258576276921108037
   PubMed Web of Science ®Google Scholar
• WuolikainenAMoritzTMarklundSLAnttiHAndersenPMDisease-related changes in the cerebrospinal fluid metabolome in amyotrophic lateral sclerosis detected by GC/TOFMSPLoS One201164e1794721483737
   PubMed Web of Science ®Google Scholar
• TalbotKDo twin studies still have anything to teach us about the genetics of amyotrophic lateral sclerosis?J Neurol Neurosurg Psychiatry201081121299130021087924
   PubMed Web of Science ®Google Scholar
• GarberKGenetics. The elusive ALS genesScience200831958592018174402
   PubMed Web of Science ®Google Scholar
• DaoudHBelzilVDionPARouleauGAChromosome 9p21 in amyotrophic lateral sclerosis: the plot thickensLancet Neurol201091094594720801719
   PubMed Web of Science ®Google Scholar
• McCordJMFridovichISuperoxide dismutase. An enzymic function for erythrocuprein (hemocuprein)J Biol Chem196924422604960555389100
   PubMed Web of Science ®Google Scholar
• van EsMADahlbergCBirveAVeldinkJHvan den BergLHAndersenPMLarge-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosisJ Neurol Neurosurg Psychiatry201081556256619965850
   PubMed Web of Science ®Google Scholar
• MarucciGMorandiLBartolomeiEAmyotrophic lateral sclerosis with mutation of the Cu/Zn superoxide dismutase gene (SOD1) in a patient with Down syndromeNeuromuscul Disord2007179–1067367617624778
   PubMed Web of Science ®Google Scholar
• HaywardCBrockDJMinnsRASwinglerRJHomozygosity for Asn86Ser mutation in the CuZn superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosisJ Med Genet1998352174
   Web of Science ®Google Scholar
• JonssonPABackstrandAAndersenPMCuZn-superoxide dismutase in D90A heterozygotes from recessive and dominant ALS pedigreesNeurobiol Dis200210332733312270693
   PubMed Web of Science ®Google Scholar
• MancusoMFilostoMNainiAA screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosisAmyotroph Lateral Scler Other Motor Neuron Disord20023421521812710511
   PubMed Web of Science ®Google Scholar
• GurneyMEPuHFChiuAYMotor-neuron degeneration in mice that express a human Cu,Zn superoxide-dismutase mutationScience19942645166177217758209258
   PubMed Web of Science ®Google Scholar
• ReaumeAGElliottJLHoffmanEKMotor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injuryNat Genet199613143478673102
   PubMed Web of Science ®Google Scholar
• ShibataNHiranoAKobayashiMIntense superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvementJ Neuropathol Exp Neurol19965544814908786408
   PubMed Web of Science ®Google Scholar
• BruijnLIBecherMWLeeMKALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusionsNeuron19971823273389052802
   PubMed Web of Science ®Google Scholar
• KatoSShimodaMWatanabeYNakashimaKTakahashiKOhamaEFamilial amyotrophic lateral sclerosis with a two base pair deletion in superoxide dismutase 1: gene multisystem degeneration with intracytoplasmic hyaline inclusions in astrocytesJ Neuropathol Exp Neurol19965510108911018858006
   PubMed Web of Science ®Google Scholar
• ZetterstromPGraffmoKSAndersenPMBrannstromTMarklundSLProteins that bind to misfolded mutant superoxide dismutase-1 in spinal cords from transgenic amyotrophic lateral sclerosis (ALS) model miceJ Biol Chem201128623201302013621493711
   PubMed Web of Science ®Google Scholar
• WatanabeMDykes-HobergMCulottaVCPriceDLWongPCRothsteinJDHistological evidence of protein aggregation in mutant SOD1 transgenic mice and in amyotrophic lateral sclerosis neural tissuesNeurobiol Dis20018693394111741389
   PubMed Web of Science ®Google Scholar
• WangJFarrGWZeissCJProgressive aggregation despite chaperone associations of a mutant SOD1-YFP in transgenic mice that develop ALSProc Natl Acad Sci U S A200910651392139719171884
   PubMed Web of Science ®Google Scholar
• OkamotoYShirakashiYIharaMColocalization of 14-13-3 proteins with SOD1 in Lewy body-like hyaline inclusions in familial amyotrophic lateral sclerosis cases and the animal modelPLoS One201165e2042721655264
   PubMed Web of Science ®Google Scholar
• ForsbergKJonssonPAAndersenPMNovel antibodies reveal inclusions containing non-native SOD1 in sporadic ALS patientsPLoS One201057e1155220644736
   PubMed Web of Science ®Google Scholar
• ForsbergKAndersenPMMarklundSLBrannstromTGlial nuclear aggregates of superoxide dismutase-1 are regularly present in patients with amyotrophic lateral sclerosisActa Neuropathol2011121562363421287393
   PubMed Web of Science ®Google Scholar
• TainerJAGetzoffEDRichardsonJSRichardsonDCStructure and mechanism of copper, zinc superoxide dismutaseNature198330659402842876316150
   PubMed Web of Science ®Google Scholar
• PargeHEHallewellRATainerJAAtomic structures of wild-type and thermostable mutant recombinant human Cu,Zn superoxide-dismutaseP Natl Acad Sci U S A1992891361096113
   PubMed Web of Science ®Google Scholar
• BourneYRedfordSMSteinmanHMLepockJRTainerJAGetzoffEDNovel dimeric interface and electrostatic recognition in bacterial Cu,Zn superoxide dismutaseP Natl Acad Sci U S A199693231277412779
   Web of Science ®Google Scholar
• BorgstahlGEPargeHEHickeyMJBeyerWFJrHallewellRATainerJAThe structure of human mitochondrial manganese superoxide dismutase reveals a novel tetrameric interface of two 4-helix bundlesCell19927111071181394426
   PubMed Web of Science ®Google Scholar
• GuanYHickeyMJBorgstahlGECrystal structure of Y34F mutant human mitochondrial manganese superoxide dismutase and the functional role of tyrosine 34Biochemistry19983714472247309537987
   PubMed Web of Science ®Google Scholar
• PerryJJHearnASCabelliDENickHSTainerJASilvermanDNContribution of human manganese superoxide dismutase tyrosine 34 to structure and catalysisBiochemistry200948153417342419265433
   PubMed Web of Science ®Google Scholar
• PerryJJShinDSGetzoffEDTainerJAThe structural biochemistry of the superoxide dismutasesBiochim Biophys Acta20101804224526219914407
   PubMed Web of Science ®Google Scholar
• DiDonatoMCraigLHuffMEALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilizationJ Mol Biol2003332360161512963370
   PubMed Web of Science ®Google Scholar
• ShinDSDiDonatoMBarondeauDPSuperoxide dismutase from the eukaryotic thermophile alvinella pompejana: structures, stability, mechanism, and insights into amyotrophic lateral sclerosisJ Mol Biol200938551534155519063897
   PubMed Web of Science ®Google Scholar
• FanLFussJOChengQJXPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutationsCell2008133578980018510924
   PubMed Web of Science ®Google Scholar
• WangQJohnsonJLAgarNYAgarJNProtein aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survivalPLoS Biol200867e17018666828
   PubMed Web of Science ®Google Scholar
• VassallKAStubbsHRPrimmerHADecreased stability and increased formation of soluble aggregates by immature superoxide dismutase do not account for disease severity in ALSProc Natl Acad Sci U S A201110862210221521257910
   PubMed Web of Science ®Google Scholar
• BystromRAndersenPMGrobnerGOlivebergMSOD1 mutations targeting surface hydrogen bonds promote amyotrophic lateral sclerosis without reducing apo-state stabilityJ Biol Chem201028525195441955220189984
   PubMed Web of Science ®Google Scholar
• PrudencioMHartPJBorcheltDRAndersenPMVariation in aggregation propensities among ALS-associated variants of SOD1: correlation to human diseaseHum Mol Genet200918173217322619483195
   PubMed Web of Science ®Google Scholar
• LindbergMJTibellLOlivebergMCommon denominator of Cu/Zn superoxide dismutase mutants associated with amyotrophic lateral sclerosis: decreased stability of the apo stateProc Natl Acad Sci U S A20029926166071661212482932
   PubMed Web of Science ®Google Scholar
• BoscoDAMorfiniGKarabacakNMWild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALSNat Neurosci201013111396140320953194
   PubMed Web of Science ®Google Scholar
• ProctorEADingFDokholyanNVStructural and thermodynamic effects of post-translational modifications in mutant and wild type Cu, Zn superoxide dismutaseJ Mol Biol2011408355556721396374
   PubMed Web of Science ®Google Scholar
• NishitohHKadowakiHNagaiAALS-linked mutant SOD1 induces ER stress- and ASK1-dependent motor neuron death by targeting Derlin-1Genes Dev200822111451146418519638
   PubMed Web of Science ®Google Scholar
• HarrazMMMardenJJZhouWSOD1 mutations disrupt redox-sensitive Rac regulation of NADPH oxidase in a familial ALS modelJ Clin Invest2008118265967018219391
   PubMed Web of Science ®Google Scholar
• KatoSSumi-AkamaruHFujimuraHCopper chaperone for superoxide dismutase co-aggregates with superoxide dismutase 1 (SOD1) in neuronal Lewy body-like hyaline inclusions: an immunohistochemical study on familial amyotrophic lateral sclerosis with SOD1 gene mutationActa Neuropathol2001102323323811585247
   PubMed Web of Science ®Google Scholar
• UrushitaniMSikASakuraiTNukinaNTakahashiRJulienJPChromogranin-mediated secretion of mutant superoxide dismutase proteins linked to amyotrophic lateral sclerosisNat Neurosci20069110811816369483
   PubMed Web of Science ®Google Scholar
• KieranDHafezparastMBohnertSA mutation in dynein rescues axonal transport defects and extends the life span of ALS miceJ Cell Biol2005169456156715911875
   PubMed Web of Science ®Google Scholar
• ZhangFStromALFukadaKLeeSHaywardLJZhuHInteraction between familial amyotrophic lateral sclerosis (ALS)-linked SOD1 mutants and the dynein complexJ Biol Chem200728222166911669917403682
   PubMed Web of Science ®Google Scholar
• Da CruzSClevelandDWUnderstanding the role of TDP-43 and FUS/TLS in ALS and beyondCurr Opin Neurobiol 20112011216904919
   PubMed Web of Science ®Google Scholar
• PolymenidouMLagier-TourenneCHuttKRLong pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43Nat Neurosci201114445946821358643
   PubMed Web of Science ®Google Scholar
• Van DeerlinVMLeverenzJBBekrisLMTARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysisLancet Neurol20087540941618396105
   PubMed Web of Science ®Google Scholar
• KuhnleinPSperfeldADVanmassenhoveBTwo German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutationsArch Neurol20086591185118918779421
   PubMedGoogle Scholar
• SreedharanJBlairIPTripathiVBTDP-43 mutations in familial and sporadic amyotrophic lateral sclerosisScience200831958701668167218309045
   PubMed Web of Science ®Google Scholar
• RutherfordNJZhangYJBakerMNovel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosisPLoS Genet200849e100019318802454
   PubMed Web of Science ®Google Scholar
• KabashiEValdmanisPNDionPTARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosisNat Genet200840557257418372902
   PubMed Web of Science ®Google Scholar
• NeumannMSampathuDMKwongLKUbiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosisScience2006314579613013317023659
   PubMed Web of Science ®Google Scholar
• AraiTHasegawaMAkiyamaHTDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosisBiochem Biophys Res Commun2006351360261117084815
   PubMed Web of Science ®Google Scholar
• MaekawaSLeighPNKingATDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutationsNeuropathology200929667268319496940
   PubMed Web of Science ®Google Scholar
• MackenzieIRBigioEHIncePGPathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutationsAnn Neurol200761542743417469116
   PubMed Web of Science ®Google Scholar
• VanceCRogeljBHortobagyiTMutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6Science200932359181208121119251628
   PubMed Web of Science ®Google Scholar
• NeumannMMackenzieIRRademakersRTDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementiaLancet Neurol2010910995100720864052
   PubMed Web of Science ®Google Scholar
• DengHXZhaiHBigioEHFUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosisAnn Neurol201067673974820517935
   PubMed Web of Science ®Google Scholar
• KwiatkowskiTJJrBoscoDALeclercALMutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosisScience200932359181205120819251627
   PubMed Web of Science ®Google Scholar
• DormannDRoddeREdbauerDALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear importEMBO J201029162841285720606625
   PubMed Web of Science ®Google Scholar
• SnowdenJSHuQRollinsonSThe most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS geneActa Neuropathol201112219911021424531
   PubMed Web of Science ®Google Scholar
• NeumannMBentmannEDormannDFET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutationsBrain2011134Pt 92595260921856723
   PubMed Web of Science ®Google Scholar
• NeumannMRademakersRRoeberSBakerMKretzschmarHAMackenzieIRA new subtype of frontotemporal lobar degeneration with FUS pathologyBrain2009132Pt 112922293119674978
   PubMed Web of Science ®Google Scholar
• WoulfeJGrayDAMackenzieIRFUS-immunoreactive intra-nuclear inclusions in neurodegenerative diseaseBrain Pathol201020358959719832837
   PubMed Web of Science ®Google Scholar
• MaruyamaHMorinoHItoHMutations of optineurin in amyotrophic lateral sclerosisNature2010465729522322620428114
   PubMed Web of Science ®Google Scholar
• SwarupGNagabhushanaAOptineurin, a multifunctional protein involved in glaucoma, amyotrophic lateral sclerosis and antiviral signallingJ Biosci201035450150521289430
   PubMed Web of Science ®Google Scholar
• ZhuGWuCJZhaoYAshwellJDOptineurin negatively regulates TNFalpha- induced NF-kappaB activation by competing with NEMO for ubiquitinated RIPCurr Biol200717161438144317702576
   PubMed Web of Science ®Google Scholar
• YingHShenXParkBYueBYPosttranslational modifications, localization, and protein interactions of optineurin, the product of a glaucoma genePLoS One201052e916820161783
   PubMed Web of Science ®Google Scholar
• AnborghPHGodinCPampilloMInhibition of metabotropic glutamate receptor signaling by the huntingtin-binding protein optineurinJ Biol Chem200528041348403484816091361
   PubMed Web of Science ®Google Scholar
• WildPFarhanHMcEwanDGPhosphorylation of the autophagy receptor optineurin restricts Salmonella growthScience2011333603922823321617041
   PubMed Web of Science ®Google Scholar
• ItoHHFujitaKNakamuraMOptineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body diseaseActa Neuropathol2011121455555721327942
   PubMed Web of Science ®Google Scholar
• HortobagyiTTroakesCNishimuraALOptineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disordersActa Neuropathol2011121451952721360076
   PubMed Web of Science ®Google Scholar
• DengHXBigioEHZhaiHDifferential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutationsArch Neurol20116881057106121825243
   PubMedGoogle Scholar
• HuangLHuangYGuoHDominant expression of angiogenin in NeuN positive cells in the focal ischemic rat brainJ Neurol Sci20092851–222022319666176
   PubMed Web of Science ®Google Scholar
• GreenwayMJAndersenPMRussCANG mutations segregate with familial and sporadic amyotrophic lateral sclerosis. Nat GenetApr2006384411413
   Google Scholar
• WuDYuWHKishikawaHAngiogenin loss-of-function mutations in amyotrophic lateral sclerosisAnn Neurol200762660961717886298
   PubMed Web of Science ®Google Scholar
• PrehnJHKieranDSebastiaJControl of motoneuron survival by angiogeninJ Neurosci20082852140561406119109488
   PubMed Web of Science ®Google Scholar
• HuGFKishimotoKLiuSMTsujiTOlsonKAEndogenous angiogenin in endothelial cells is a general requirement for cell proliferation and angiogenesisOncogene200524344545615558023
   PubMed Web of Science ®Google Scholar
• CrabtreeBThiyagarajanNPriorSHCharacterization of human angiogenin variants implicated in amyotrophic lateral sclerosisBiochemistry20074642118101181817900154
   PubMed Web of Science ®Google Scholar
• HongSBSiddiqueTX-linked dominant locus for late-onset familial amyotrophic lateral sclerosisSoc Neurosci Abst199824478
   Google Scholar
• LeeTLiYRIngreCAtaxin-2 intermediate-length poly-glutamine expansions in European ALS patientsHum Mol Genet20112091697170021292779
   PubMed Web of Science ®Google Scholar
• FectoFSiddiqueTMaking connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementiaJ Mol Neurosci201145366367521901496
   PubMed Web of Science ®Google Scholar
• KabashiEBercierVLissoubaAFUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosisPLoS Genet201178e100221421829392
   PubMed Web of Science ®Google Scholar
• MackenzieIRNeumannMRademakersRRoeberSBakerMKretzschmarHAA new subtype of frontotemporal lobar degeneration with FUS pathologyBrain20091322922293119674978
   PubMed Web of Science ®Google Scholar
• LiuYHTianTHypothesis of optineurin as a new common risk factor in normal-tension glaucoma and Alzheimer’s diseaseMed Hypotheses201177459159221764520
   PubMed Web of Science ®Google Scholar
• del ToroDAlberchJLazaro-DieguezFMutant huntingtin impairs post-Golgi trafficking to lysosomes by delocalizing optineurin/Rab8 complex from the Golgi apparatusMol Biol Cell20092051478149219144827
   PubMed Web of Science ®Google Scholar
• RezaieTChildAHitchingsRAdult-onset primary open-angle glaucoma caused by mutations in optineurinScience200229555571077107911834836
   PubMed Web of Science ®Google Scholar
• AlbaghaOMViscontiMRAlonsoNGenome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget’s disease of boneNat Genet201042652052420436471
   PubMed Web of Science ®Google Scholar
• ShirakashiYKawamotoYTomimotoHTakahashiRIharaMAlpha-synuclein is colocalized with 14-13-3 and synphilin-1 in A53T transgenic miceActa Neuropathol2006112668168916957925
   PubMed Web of Science ®Google Scholar
• van BlitterswijkMLandersJERNA processing pathways in amyotrophic lateral sclerosisNeurogenetics201011327529020349096
   PubMed Web of Science ®Google Scholar
• GatchelJRZoghbiHYDiseases of unstable repeat expansion: mechanisms and common principlesNat Rev Genet200561074375516205714
   PubMed Web of Science ®Google Scholar
• BourkeSCTomlinsonMWilliamsTLBullockREShawPJGibsonGJEffects of non-invasive ventilation on survival and quality of life in patients with amyotrophic lateral sclerosis: a randomised controlled trialLancet Neurol20065214014716426990
   PubMed Web of Science ®Google Scholar
• BowserRTurnerMRShefnerJBiomarkers in amyotrophic lateral sclerosis: opportunities and limitationsNat Rev Neurol201171163163821989244
   PubMed Web of Science ®Google Scholar
• KasaiTTokudaTIshigamiNIncreased TDP-43 protein in cerebrospinal fluid of patients with amyotrophic lateral sclerosisActa Neuropathol20091171556218989684
   PubMed Web of Science ®Google Scholar
• FouldsPMcAuleyEGibbonsLTDP-43 protein in plasma may index TDP-43 brain pathology in Alzheimer’s disease and frontotemporal lobar degenerationActa Neuropathol2008116214114618506455
   PubMed Web of Science ®Google Scholar
• WilsonMEBoumazaILacomisDBowserRCystatin C: a candidate biomarker for amyotrophic lateral sclerosisPLoS One2010512e1513321151566
   PubMed Web of Science ®Google Scholar
• GanesalingamJAnJShawCEShawGLacomisDBowserRCombination of neurofilament heavy chain and complement C3 as CSF biomarkers for ALSJ Neurochem2011117352853721418221
   PubMed Web of Science ®Google Scholar
• SwashMEarly diagnosis of ALS/MNDJ Neurol Sci1998160Suppl 1S33S369851646
   PubMed Web of Science ®Google Scholar
• BensimonGLacomblezLMeiningerVA controlled trial of riluzole in amyotrophic lateral sclerosis. ALS/Riluzole Study GroupN Engl J Med199433095855918302340
   PubMed Web of Science ®Google Scholar
• DobleAThe pharmacology and mechanism of action of riluzoleNeurology1996476 Suppl 4S233S2418959995
   PubMed Web of Science ®Google Scholar
• Garnock-JonesKPDextromethorphan/quinidine: in pseudobulbar affectCNS Drugs201125543544521476614
   PubMed Web of Science ®Google Scholar
• RothsteinJDPatelSReganMRBeta-lactam antibiotics offer neuroprotection by increasing glutamate transporter expressionNature20054337021737715635412
   PubMed Web of Science ®Google Scholar
• IzumiYKajiRClinical trials of ultra-high-dose methylcobalamin in ALSBrain Nerve200759101141114717969354
   PubMedGoogle Scholar
• HemendingerRAArmstrongEJ3rdBrooksBRMethyl Vitamin B12 but not methylfolate rescues a motor neuron-like cell line from homocysteine-mediated cell deathToxicol Appl Pharmacol2011251321722521237187
   PubMed Web of Science ®Google Scholar
• CheahBCKiernanMCDexpramipexole, the R(+) enantiomer of pramipexole, for the potential treatment of amyotrophic lateral sclerosisI Drugs2010131291192021154151
   PubMed Web of Science ®Google Scholar
• TurnerBJTalbotKTransgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALSProg Neurobiol20088519413418282652
   PubMed Web of Science ®Google Scholar
• SwarupVJulienJPALS pathogenesis: recent insights from genetics and mouse modelsProg Neuropsychopharmacol Biol Psychiatry201135236336920728492
   PubMed Web of Science ®Google Scholar
• TudorELGaltreyCMPerkintonMSAmyotrophic lateral sclerosis mutant vesicle-associated membrane protein-associated protein-B transgenic mice develop TAR-DNA-binding protein-43 pathologyNeuroscience2010167377478520188146
   PubMed Web of Science ®Google Scholar
• GordonPHMeiningerVHow can we improve clinical trials in amyotrophic lateral sclerosis?Nat Rev Neurol201171165065421947135
   PubMed Web of Science ®Google Scholar
• KalmarBNovoselovSGrayACheethamMEMargulisBGreensmithLLate stage treatment with arimoclomol delays disease progression and prevents protein aggregation in the SOD1 mouse model of ALSJ Neurochem2008107233935018673445
   PubMed Web of Science ®Google Scholar
• RalphGSRadcliffePADayDMSilencing mutant SOD1 using RNAi protects against neurodegeneration and extends survival in an ALS modelNat Med200511442943315768029
   PubMed Web of Science ®Google Scholar
• RaoulCAbbas-TerkiTBensadounJCLentiviral-mediated silencing of SOD1 through RNA interference retards disease onset and progression in a mouse model of ALSNat Med200511442342815768028
   PubMed Web of Science ®Google Scholar
• MillerTMSmithRAYamanakaKAntisense oligo-nucleotide therapy for neurodegenerative diseaseJ Clin Invest200611682290229616878173
   PubMed Web of Science ®Google Scholar
• TakeuchiSFujiwaraNIdoAInduction of protective immunity by vaccination with wild-type apo superoxide dismutase 1 in mutant SOD1 transgenic miceJ Neuropathol Exp Neurol201069101044105620838241
   PubMed Web of Science ®Google Scholar
• HallewellRALariaITabriziAGenetically engineered polymers of human CuZn superoxide-dismutase. Biochemistry and serum half-livesJ Biol Chem19892649526052682647749
   PubMed Web of Science ®Google Scholar
• TainerJAGetzoffEDAlexanderHThe reactivity of anti-peptide antibodies is a function of the atomic mobility of sites in a proteinNature198431259901271346209578
   PubMed Web of Science ®Google Scholar
• TainerJAGetzoffEDPatersonYOlsonAJLernerRAThe atomic mobility component of protein antigenicityAnnu Rev Immunol198535015352415142
   PubMed Web of Science ®Google Scholar
• Haidet-PhillipsAMHesterMEMirandaCJAstrocytes from familial and sporadic ALS patients are toxic to motor neuronsNat Biotechnol201129982482821832997
   PubMed Web of Science ®Google Scholar
• MaragakisNJLeporeACRauckBFocal transplantation-based astrocyte replacement is neuroprotective in a model of motor neuron diseaseNature Neuroscience200811111294130118931666
   PubMed Web of Science ®Google Scholar
• XuLYYanJChenDHuman neural stem cell grafts ameliorate motor neuron disease in SOD-1 transgenic ratsTransplantation200682786587517038899
   PubMed Web of Science ®Google Scholar
• CharcotJMJofforyATwo cases of progressive muscular atrophy with lesions in the gray matter and in the anterolateral bundles of the spinal cord [Deux cas d’atrophie musculaire progressive avec lesions de la substance grise et des faisceaux anterolateraux de la moelle epiniere]Arch Physiol Neurol Pathol 21869744754 French
   Google Scholar
• PerryJJFanLTainerJADeveloping master keys to brain pathology, cancer and aging from the structural biology of proteins controlling reactive oxygen species and DNA repairNeuroscience200714541280129917174478
   PubMed Web of Science ®Google Scholar
• DormannDHaassCTDP-43 and FUS: a nuclear affairTrends Neurosci201134733934821700347
   PubMed Web of Science ®Google Scholar
• ALS online genetics database Available from: http://alsod.iop.kcl.ac.uk/alsAccessed December 28, 2011
   Google Scholar
• Genetic Association studies Available from: http://www.alsgene.orgAccessed December 28, 2011
   Google Scholar
• ALS forum Available from: http://www.researchals.orgAccessed December 28, 2011
   Google Scholar
• Northeast ALS Consortium Available from: http://www.alsconsortium.orgAccessed December 28, 2011
   Google Scholar
• ALS untangled Available from: http://www.alsuntangled.comAccessed December 28, 2011
   Google Scholar