6533b7ddfe1ef96bd127554a

RESEARCH PRODUCT

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Aude NicolasKevin P. KennaAlan E. RentonNicola TicozziFaraz FaghriRuth ChiaJanice A. DominovBrendan J. KennaMike A. NallsPamela KeagleAlberto M. RiveraWouter Van RheenenNatalie A. MurphyJoke J.f.a. Van VugtJoshua T. GeigerRick A. Van Der SpekHannah A. PlinerNull ShankaracharyaBradley N. SmithGiuseppe MarangiSimon D. ToppYevgeniya AbramzonAthina Soragia GkaziJohn D. EicherAoife KennaGabriele MoraAndrea CalvoLetizia MazziniNilo RivaJessica MandrioliClaudia CaponnettoStefania BattistiniPaolo VolantiVincenzo La BellaFrancesca Luisa ConfortiGiuseppe BorgheroSonia MessinaIsabella L. SimoneFrancesca TrojsiFabrizio SalviFrancesco O. LogulloSandra D’alfonsoLucia CorradoMargherita CapassoLuigi FerrucciCristiane De Araujo Martins MorenoSitharthan KamalakaranDavid B. GoldsteinAaron D. GitlerTim HarrisRichard M. MyersHemali PhatnaniRajeeva Lochan MusunuriUday Shankar EvaniAvinash AbhyankarMichael C. ZodyJulia KayeSteven FinkbeinerStacia K. WymanAlex LenailLeandro LimaErnest FraenkelClive N. SvendsenLeslie M. ThompsonJennifer E. Van EykJames D. BerryTimothy M. MillerStephen J. KolbMerit CudkowiczEmily BaxiMichael BenatarJ. Paul TaylorEvadnie RampersaudGang WuJoanne WuuGiuseppe LauriaFederico VerdeIsabella FoghCinzia TilocaGiacomo P. ComiGianni SorarùCristina CeredaPhilippe CorciaHannu LaaksovirtaLiisa MyllykangasLilja JanssonMiko ValoriJohn EalingHisham HamdallaSara RollinsonStuart Pickering-brownRichard W. OrrellKatie C. SidleAndrea MalaspinaJohn HardyAndrew B. SingletonJanel O. JohnsonSampath ArepalliPeter C. SappDiane Mckenna-yasekMeraida PolakSeneshaw AsressSafa Al-sarrajAndrew KingClaire TroakesCaroline VanceJacqueline De BellerocheFrank BaasAnneloor L.m.a. Ten AsbroekJosé Luis Muñoz-blancoDena G. HernandezJinhui DingJ. Raphael GibbsSonja W. ScholzMary Kay FloeterRoy H. CampbellFrancesco LandiRobert BowserStefan M. PulstJohn M. RavitsDaniel J.l. MacgowanJanine KirbyErik P. PioroRoger PamphlettJames BroachGlenn GerhardTravis L. DunckleyChristopher B. BradyNeil W. KowallJuan C. TroncosoIsabelle Le BerKevin MouzatSerge LumbrosoTerry D. Heiman-pattersonFreya KamelLudo Van Den BoschRobert H. BalohTim M. StromThomas MeitingerAleksey ShatunovKristel R. Van EijkMamede De CarvalhoMaarten KooymanBas MiddelkoopMatthieu MoisseRussell L. MclaughlinMichael A. Van EsMarkus WeberKevin B. BoylanMarka Van BlitterswijkRosa RademakersKaren E. MorrisonA. Nazli BasakJesús S. MoraVivian E. DroryPamela J. ShawMartin R. TurnerKevin TalbotOrla HardimanKelly L. WilliamsJennifer A. FifitaGarth A. NicholsonIan P. BlairGuy A. RouleauJesús Esteban-pérezAlberto García-redondoAmmar Al-chalabiEkaterina RogaevaLorne ZinmanLyle W. OstrowNicholas J. MaragakisJeffrey D. RothsteinZachary SimmonsJohnathan Cooper-knockAlexis BriceStephen A. GoutmanEva L. FeldmanSummer B. GibsonFranco TaroniAntonia RattiCinzia GelleraPhilip Van DammeWim RobberechtPietro FrattaMario SabatelliChristian LunettaAlbert C. LudolphPeter M. AndersenJochen H. WeishauptWilliam CamuJohn Q. TrojanowskiVivianna M. Van DeerlinRobert H. BrownLeonard H. Van Den BergJan H. VeldinkMatthew B. HarmsJonathan D. GlassDavid J. StonePentti TienariVincenzo SilaniAdriano ChiòChristopher E. ShawBryan J. TraynorJohn E. LandersFrancesco O. LogulloIsabella SimoneGiancarlo LogroscinoFabrizio SalviIlaria BartolomeiGiuseppe BorgheroMaria Rita MurruEmanuela CostantinoCarla PaniRoberta PudduCarla CareddaValeria PirasStefania TranquilliStefania CuccuDaniela CorongiuMaurizio MelisAntonio MiliaFrancesco MarrosuMaria Giovanna MarrosuGianluca FlorisAntonino CannasStefania TranquilliMargherita CapassoClaudia CaponnettoGianluigi MancardiPaola OrigonePaola MandichFrancesca L. ConfortiSebastiano CavallaroGabriele MoraKalliopi MarinouRiccardo SideriSilvana PencoLorena MoscaChristian LunettaGiuseppe Lauria PinterMassimo CorboNilo RivaPaola CarreraPaolo VolantiJessica MandrioliNicola FiniAntonio FasanoLucio TremolizzoAlessandro ArosioCarlo FerrareseFrancesca TrojsiGioacchino TedeschiMaria Rosaria MonsurròGiovanni PiccirilloCinzia FemianoAnna TiccaEnzo OrtuVincenzo La BellaRossella SpataroTiziana CollettiMario SabatelliMarcella ZollinoAmelia ConteMarco LuigettiSerena LattanteGiuseppe MarangiMarialuisa SantarelliAntonio PetrucciMaura PugliattiAngelo PirisiLeslie D. ParishPatrizia OcchineriFabio GianniniStefania BattistiniClaudia RicciMichele BenigniTea B. CauDaniela LoiAndrea CalvoCristina MogliaMaura BrunettiMarco BarberisGabriella RestagnoFederico CasaleGiuseppe MarraliGiuseppe FudaIrene OssolaStefania CammarosanoAntonio CanosaAntonio IlardiUmberto ManeraMaurizio GrassanoRaffaella TanelFabrizio PisanoMatthew B. HarmsDavid B. GoldsteinNeil A. ShneiderStephen GoutmanZachary SimmonsTimothy M. MillerSiddharthan ChandranSuvankar PalGeorge ManousakisStanley H. AppelEricka SimpsonLeo WangRobert H. BalohSummer GibsonRichard BedlackDavid LacomisDhruv SareenAlexander ShermanLucie BruijnMichelle PennyAndrew S. AllenStanley AppelRobert H. BalohRichard S. BedlackBraden E. BooneRobert BrownJohn P. CarulliAlessandra ChesiWendy K. ChungElizabeth T. CirulliGregory M. CooperJulien CouthouisAaron G. Day-williamsPatrick A. DionSummer GibsonAaron D. GitlerJonathan D. GlassDavid B. GoldsteinYujun HanMatthew B. HarmsTim HarrisSebastian D. HayesAngela L. JonesJonathan KeeblerBrian J. KruegerBrittany N. LasseigneShawn E. LevyYi-fan LuTom ManiatisDiane Mckenna-yasekTimothy M. MillerRichard M. MyersSlavé PetrovskiStefan M. PulstAlya R. RaphaelJohn M. RavitsZhong RenGuy A. RouleauPeter C. SappNeil A. ShneiderEricka SimpsonKatherine B. SimsJohn F. StaropoliLindsay L. WaiteQuanli WangJack R. WimbishWinnie W. XinHemali PhatnaniJustin KwanDhruv SareenJames R. BroachZachary SimmonsXimena Arcila-londonoEdward B. LeeVivianna M. Van DeerlinNeil A. ShneiderErnest FraenkelLyle W. OstrowFrank BaasNoah ZaitlenJames D. BerryAndrea MalaspinaPietro FrattaGregory A. CoxLeslie M. ThompsonSteve FinkbeinerEfthimios DardiotisTimothy M. MillerSiddharthan ChandranSuvankar PalEran HornsteinDaniel J. MacgowanTerry Heiman-pattersonMolly G. HammellNikolaos A. PatsopoulosJoshua DubnauAvindra NathJulia KayeSteven FinkbeinerStacia WymanAlexander LenailLeandro LimaErnest FraenkelJeffrey D. RothsteinClive N. SvendsenLeslie M. ThompsonJenny Van EykNicholas J. MaragakisJames D. BerryJonathan D. GlassTimothy M. MillerStephen J. KolbRobert H. BalohMerit CudkowiczEmily BaxiMichael BenatarJ. Paul TaylorGang WuEvadnie RampersaudJoanne WuuRosa RademakersStephan ZüchnerRebecca SchuleJacob L. MccauleySumaira HussainAnne CooleyMarielle WallaceChristine ClaymanRichard BarohnJeffrey StatlandJohn RavitsAndrea SwensonCarlayne JacksonJaya TrivediShaida KhanJonathan KatzLiberty JenkinsTed BurnsKelly GwathmeyJames CaressCorey McmillanLauren ElmanErik PioroJeannine HeckmannYuen SoDavid WalkSamuel MaiserJinghui ZhangVincenzo SilaniNicola TicozziCinzia GelleraAntonia RattiFranco TaroniGiuseppe LauriaFederico VerdeIsabella FoghCinzia TilocaGiacomo P. ComiGianni SorarùCristina CeredaSandra D’alfonsoLucia CorradoFabiola De MarchiStefania CortiMauro CeroniLetizia MazziniGabriele SicilianoMassimiliano FilostoMaurizio InghilleriSilvia PeverelliClaudia ColombritaBarbara PolettiLuca MadernaRoberto Del BoStella GagliardiGiorgia QuerinCinzia BertolinViviana PensatoBarbara CastellottiWilliam CamuKevin MouzatSerge LumbrosoPhilippe CorciaVincent MeiningerGérard BessonEmmeline LagrangePierre ClavelouNathalie GuyPhilippe CouratierPatrick VourchVéronique DanelEmilien BernardGwendal LemassonAhmad Al KheifatAmmar Al-chalabiPeter AndersenA. Nazli BasakIan P. BlairAdriano ChioJonathan Cooper-knockPhilippe CorciaPhilippe CouratierMamede De CarvalhoAnnelot DekkerVivian DroryAlberto Garcia RedondoMarc GotkineOrla HardimanWinston HideAlfredo IacoangeliJonathan GlassKevin KennaMatthew KiernanMaarten KooymanJohn LandersRussell L. MclaughlinBas MiddelkoopJonathan MillMiguel Mitne NetoMattieu MoisseJesus Mora PardinaKaren MorrisonStephen NewhouseSusana PintoSara PulitWim RobberechtAleksey ShatunovPamela ShawChris ShawVincenzo SilaniWilliam SprovieroGijs TazelaarNicola TicozziPhilip Van DammeLeonard Van Den BergRick Van Der SpekKristel Van EijkMichael Van EsWouter Van RheenenJoke Van VugtJan VeldinkMarkus WeberKelly L. WilliamsMayana ZatzDenis C. BauerNatalie A. Twine

subject

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)

description

© 2018 Elsevier Inc.

yearjournalcountryeditionlanguage
2018-03-21
10.1016/j.neuron.2018.02.027https://dspace.library.uu.nl/handle/1874/363799