학술논문


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'학술논문' 에서 검색결과 353건 | 목록 1~20
Academic Journal
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1775-1786 (2024)
Marriott, H, Spargo, T P, Al Khleifat, A, Andersen, P M, Başak, N A, Cooper-Knock, J, Corcia, P, Couratier, P, de Carvalho, M, Drory, V, Gotkine, M, Landers, J E, McLaughlin, R, Pardina, J S M, Morrison, K E, Pinto, S, Shaw, C E, Shaw, P J, Silani, V, Ticozzi, N, van Damme, P, van den Berg, L H, Vourc'h, P, Weber, M, Veldink, J H, Dobson, R J, Schwab, P, Al-Chalabi, A & Iacoangeli, A 2024, 'Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS', Annals of Clinical and Translational Neurology, vol. 11, no. 7, pp. 1775-1786. https://doi.org/10.1002/acn3.52083
Academic Journal
Erica TavazziSebastian DaberdakuAlessandro ZandonàRosario VastaBeatrice NefussyChristian LunettaGabriele MoraJessica MandrioliEnrico GrisanClaudia TarlariniAndrea CalvoCristina MogliaVivian DroryMarc GotkineAdriano ChiòBarbara Di CamilloA. ChiòRita Levi MontalciniA. CalvoC. MogliaA. CanosaU. ManeraR. VastaF. PalumboA. BombaciM. GrassanoM. BrunettiF. CasaleG. FudaP. SalomoneB. IazzolinoL. PeottaP. CugnascoG. De MarcoM. C. TorrieriS. GalloneM. BarberisL. SbaizS. GentileA. MauroL. MazziniF. MarchiL. CorradoS. D’AlfonsoA. BertolottoM. GioncoD. LeottaE. OddeninoR. CavalloM. De MatteiG. GusmaroliC. ComiC. LabateF. PoglioL. RuizD. FerrandiL. TestaE. RotaM. AguggiaN. Di VitoP. MeineriP. GhiglioneN. LaunaroM. DottaA. SapioM. GiovanniJ. MandrioliN. FiniI. MartinelliE. ZucchiG. GianferrariC. SimoniniM. VincetiS. MelettiV. VacchianoR. LiguoriFabrizio SalviIlaria BartolomeiRoberto MichelucciP. CortelliA. M. BorghiA. ZiniR. RinaldiE. SetteV. TugnoliM. PugliattiE. CanaliL. CodeluppiF. ValzaniaL. ZinnoG. PavesiD. MediciG. PilurziE. TerlizziD. GuidettiS. PasquaM. SantangeloM. BracagliaP. DeMassisM. CasmiroP. QuerzaniS. MorresiM. LongoniA. PatuelliS. MalagùM. Currò DossiS. Vidale
J Neurol
Academic Journal
Sara Saez-AtienzarCleide dos Santos SouzaRuth ChiaSelina N. BealIleana LorenziniRuili HuangJennifer LevyCamelia BurciuJinhui DingJ. Raphael GibbsAshley JonesRamita DewanViviana PensatoSilvia PeverelliLucia CorradoJoke J.F.A. van VugtWouter van RheenenCeren TuncaElif BayraktarMenghang XiaAlfredo IacoangeliAleksey ShatunovCinzia TilocaNicola TicozziFederico VerdeLetizia MazziniKevin KennaAhmad Al KhleifatSarah Opie-MartinFlavia RaggiMassimiliano FilostoStefano Cotti PiccinelliAlessandro PadovaniStella GagliardiMaurizio InghilleriAlessandra FerliniRosario VastaAndrea CalvoCristina MogliaAntonio CanosaUmberto ManeraMaurizio GrassanoJessica MandrioliGabriele MoraChristian LunettaRaffaella TanelFrancesca TrojsiPatrizio CardinaliSalvatore GalloneMaura BrunettiDaniela GalimbertiMaria SerpenteChiara FenoglioElio ScarpiniGiacomo P. ComiStefania CortiRoberto Del BoMauro CeroniGiuseppe Lauria PinterFranco TaroniEleonora Dalla BellaEnrica BersanoCharles J. CurtisSang Hyuck LeeRaymond ChungHamel PatelKaren E. MorrisonJohnathan Cooper-KnockPamela J. ShawGerome BreenRichard J.B. DobsonClifton L. DalgardSonja W. ScholzAmmar Al-ChalabiLeonard H. van den BergRussell McLaughlinOrla HardimanCristina CeredaGianni SorarùSandra D’AlfonsoSiddharthan ChandranSuvankar PalAntonia RattiCinzia GelleraKory JohnsonTara Doucet-O’HareNicholas PasternackTongguang WangAvindra NathGabriele SicilianoVincenzo SilaniAyşe Nazlı BaşakJan H. VeldinkWilliam CamuJonathan D. GlassJohn E. LandersAdriano ChiòRita SattlerChristopher E. ShawLaura FerraiuoloIsabella FoghBryan J. TraynorRobert H. BalohRobert BowserChristopher B. BradyAlexis BriceJames BroachAdriano ChioJohn Cooper-KnockDaniele CusiCarsten DrepperVivian E. DroryTravis L. DunckleyEva FeldmanMary Kay FloeterPietro FrattaGlenn GerhardSummer B. GibsonStephen A. GoutmanJohn HardyMatthew B. HarmsTerry D. Heiman-PattersonLilja JanssonJanine KirbyHannu LaaksovirtaFrancesco LandiIsabelle Le BerSerge LumbrosoClaire GuissartDaniel JL. MacGowanNicholas J. MaragakisKevin MouzatLiisa MyllykangasRichard W. OrrellLyle W. OstrowStuart Pickering-BrownErik P. PioroStefan M. PulstJohn M. RavitsAlan E. RentonWim RobberechtEkaterina RogaevaJeffrey D. RothsteinErika SalviMichael SendtnerKatie C. SidleZachary SimmonsDavid J. StonePentti J. TienariJohn Q. TrojanowskiJuan C. TroncosoMiko ValoriPhilip Van DammeVivianna M. Van DeerlinLudo Van Den BoschLorne ZinmanStefania M. AngelocolaFrancesco P. AusielloMarco BarberisIlaria BartolomeiStefania BattistiniGiulia BisogniGiuseppe BorgheroCorrado CabonaFabrizio CanaleTeresa A. CantisaniMargherita CapassoClaudia CaponnettoPaola CarreraFederico CasaleTiziana CollettiFrancesca L. ConfortiAmelia ConteElisa ContiMassimo CorboStefania CuccuEustachio D'ErricoGiovanni DeMarcoRaffaele DubbiosoCarlo FerraresePilar M. FerraroMassimo FilippiNicola FiniGianluca FlorisGiuseppe FudaGiulia GianferrariFabio GianniniLucia GrecoBarbara IazzolinoAlessandro IntronaVincenzo La BellaSerena LattanteGiuseppe LauriaRocco LiguoriGiancarlo LogroscinoFrancesco O. LogulloPaola MandichFiore ManganelliGiuseppe MarangiKalliopi MarinouMaria Giovanna MarrosuIlaria MartinelliSonia MessinaMaria Rosaria MonsurròLorena MoscaMaria R. MurruPaola OrigoneCarla PassanitiCristina PetrelliAntonio PetrucciAngelo PirisiSusanna PozziMaura PugliattiAngelo QuattriniClaudia RicciGiulia RioloNilo RivaMassimo RussoMario SabatelliPaolina SalamoneMarco SalivettoFabrizio SalviMarialuisa SantarelliLuca SbaizRiccardo SideriIsabella SimoneCecilia SimoniniRossella SpataroGioacchino TedeschiAnna TiccaAntonella TorrielloStefania TranquilliLucio TremolizzoVeria VacchianoGiuseppe VitaPaolo VolantiMarcella ZollinoElisabetta ZucchiBarbara CastellottiCostanza SimonciniAnnalisa Lo GerfoPhilippe CorciaPhilippe CouratierPatrick Vourc'hMarc GotkineVivian DroryJan H. van den VeldinkLeonard H. BergMamede de CarvalhoJesus S. Mora PardinaMonica PovedanoPeter AndersenMarkus WeberChris ShawAdelani AdeleyeCamille AlbaDagmar BacikovaDaniel N. HupaloElisa McGrath MartinezAnthony R. SoltisGauthaman SukumarCoralie ViolletMatthew D. Wilkerson
Cell Genomics, Vol 4, Iss 11, Pp 100679- (2024)
Academic Journal
Rheenen, Wouter vanSpek, Rick A. A. van derBakker, Mark K.Vugt, Joke J. F. A. vanHop, Paul J.Zwamborn, Ramona A. J.Klein, Niek deWestra, Harm JanBakker, Olivier B.Deelen, PatrickShireby, GemmaSiciliano, GabrielePetri, SusanneBreen, GeromeWeber, MarkusRouleau, Guy A.Rojas García, RicardoSilani, VincenzoAmouyel, PhilippeGhiglione, PaoloDavey Smith, GeorgeNeedham, MerrileeCurtis, Charles J.Shatunov, AlekseyMill, JonathanMclaughlin, Russell L.Filosto, MassimilianoComi, CristoforoGerfo, Annalisa loFerlini, AlessandraRiva, NiloMora Pardina, Jesus S.Ceroni, MauroChiveri, LucaHardiman, OrlaTorrieri, Maria ClaudiaKenna, Kevin P.Wray, Naomi R.Tsai, EllenRunz, HeikoFranke, LudePadovani, AlessandroChandran, SiddharthanSimoncini, CostanzaAl Chalabi, AmmarAssialioui, AbdelilahLabate, CarmeloDamme, Philip vanTicozzi, NicolaPalumbo, FrancescaInghilleri, MaurizioChiò, AdrianoPal, SuvankarLunetta, ChristianGagliardi, StellaJörk, AlexanderCichon, SvenKraft, JuliaMorrison, Karen E.Ruiz, LuigiShaw, Pamela J.Hardy, JohnOrrell, Richard W.Sendtner, MichaelMeyer, ThomasCorrado, LuciaDion, Patrick A.Calvo, AndreaKooyman, MaartenBaşak, NazliGerardi, FrancescaSimone, Isabella L.Kooi, Anneke J. van derRatti, AntoniaFerrandi, DelfinaGarton, Fleur C.Fogh, IsabellaLudolph, Albert C.Moglia, CristinaBrunetti, MauraDiamanti, LucaBarthel, TabeaBlair, Ian P.Es, Michael A. vanGallone, SalvatoreCanosa, AntonioMazzini, LetiziaGuerra, VitoGrassano, MaurizioBeghi, EttorePupillo, ElisabettaLogroscino, GiancarloFerrarese, CarloNefussy, BeatriceTheele, ErikRinaldi, FabrizioWeishaupt, Jochen H.Westeneng, Henk JanKiernan, Matthew C.Barberis, MarcoOsmanovic, AlmaBaloh, Robert H.Nordin, AngelicaLerner, YossefVito, Nicoletta diZabari, MichalZoccolella, StefanoHeverin, MarkRoss, Jay P.Gotkine, MarcGuaita, Maria CristinaBrenner, DavidFreischmidt, AxelSbaiz, LucaBenyamin, BebenGlass, Jonathan D.Landers, John E.Tazelaar, Gijs H. P.Rota, EugeniaValluzzi, FrancescoBensimon, GilbertIlse, BenjaminBrice, AlexisDurr, AlexandraPayan, Christine A. M.Saker-Delye, SafaWood, Nicholas W.Gentile, SalvatoreMoisse, MatthieuTopp, SimonAguggia, MarcoHenderson, Robert D.Rademakers, RosaPerrone, PatriziaStubendorff, BeatriceBrown, Robert H.Restuadi, RestuadiTremolizzo, LucioMundi, CiroBerg, Leonard H. van denPassarella, BrunoRaggi, FlaviaDelodovici, Maria LuisaFurlong, SarahBono, GiorgioManera, UmbertoVasta, RosarioBombaci, AlessandroMeineri, PieroMauro, AlessandroHannon, EilisRini, AugustoCasale, FedericoLeone, MaurizioShaw, Christopher E.Fuda, GiuseppeSalamone, PaolinaMathers, SusanBaird, DenisLaunaro, NicolaMarchi, Fabiola deTraynor, Bryan J.Veldink, Jan H.Gellera, CinziaSalachas, FrançoisWitte, Otto W.Andersen, Peter M.D’alfonso, SandraBertolotto, AntonioGionco, MaurizioLeotta, DanielaSingleton, Andrew B.Odddenino, EnricoSlalom ConsortiumTamma, FilippoDotta, MicheleLauria, GiuseppeSteinbach, RobertImperiale, DanieleGeda, ClaudioDolzhenko, EgorCavallo, RobertoNgo, Shyuan T.Pignatta, PietroGroen, Ewout J. N.Cotelli, Maria SofiaMattei, Marco deCalabrese, GianluigiSapio, Alessia diGiardini, GuidoHübner, Christian A.Corti, StefaniaBell, ShaughnCorcia, PhilippeComi, GiancarloMccombe, Pamela A.Tiloca, CinziaParals ConsortiumGawor, KlaraPeverelli, SilviaTaroni, FrancoPensato, VivianaCastellotti, BarbaraGraff, CarolineOlsen, Catherine M.Comi, Giacomo P.Cereda, CristinaBo, Roberto delBoero, GiovanniSlagen ConsortiumVourc’h, PatrickHofman, AlbertVan Eijk, Kristel R.Pasterkamp, R. JeroenTittmann, LukasIacoangeli, AlfredoMitne Neto, MiguelSproviero, DaisyCauchi, Ruben J.Ophoff, Roel A.Wiedau Pazos, MartinaLomen-Hoerth, CatherineDeerlin, Vivianna M. vanNicholson, Garth A.Brylev, LevWhiteman, David C.Grosskreutz, JulianFan, DongshengCouratier, PhilippeRoediger, AnnekathrinGaur, NayanaUitterlinden, André G.Pamphlett, RogerFominykh, VeraByrne, Ross P.Lieb, WolfgangIazzolino, BarbaraDekker, Annelot M.Slap ConsortiumDemeshonok, VeraMillecamps, StéphanieAtaulina, AnastasiaRogelj, BorisKoritnik, BlažZidar, JanezRavnik-Glavač, MetkaFranke, AndreMcrae, Allan F.Rowe, Dominic B.Peotta, LauraCooper-Knock, JohnathanGlavač, DamjanDoherty, MarkRietschel, MarcellaStević, ZoricaDrory, VivianMeininger, VincentZarrelli, MichelePovedano Panades, MónicaGaunt, Tom R.Steyn, Frederik J.Williams, Kelly L.Smith, Bradley N.Cugnasco, PaoloPapurello, Diego MariaNozzoli, CeciliaSorarù, GianniMather, Karen A.Ripke, StephanNöthen, Markus M.Sachdev, Perminder S.Henders, Anjali K.Wallace, LeanneCarvalho, Mamede deGromicho, MartaPinto, SusanaMarco, Giovanni deAl Khleifat, AhmadEberle, Michael A.Braun, AliceGusmaroli, Graziano
Nat Genet
NATURE GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Dipòsit Digital de la UB
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Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Universidad de Barcelona
Nature genetics 53(12), 1636-1648 (2021). doi:10.1038/s41588-021-00973-1
SLALOM Consortium 2021, 'Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology', Nature Genetics, vol. 53, no. 12, pp. 1636-1648. https://doi.org/10.1038/s41588-021-00973-1
et al. 2021, 'Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology', Nature Genetics, vol. 53, pp. 1636–1648. https://doi.org/10.1038/s41588-021-00973-1
Nature Genetics
Nature Genetics, vol 53, iss 12
Academic Journal
Jonathan LiRyan G. LimJulia A. KayeVictoria DardovAlyssa N. CoyneJie WuPamela MilaniAndrew ChengTerri G. ThompsonLoren OrnelasAaron FrankMiriam AdamMaria G. BanuelosMalcolm CasaleVeerle CoxRenan Escalante-ChongJ. Gavin DaigleEmilda GomezLindsey HayesRonald HolewenskiSusan LeiAlex LenailLeandro LimaBerhan MandefroAndrea MatlockLindsay PantherNatasha Leanna Patel-MurrayJacqueline PhamDivya RamamoorthyKaren SachsBrandon ShelleyJennifer StocksdaleHannah TrostMark WilhelmVidya VenkatramanBrook T. WassieStacia WymanStephanie YangJennifer E. Van EykThomas E. LloydSteven FinkbeinerErnest FraenkelJeffrey D. RothsteinDhruv SareenClive N. SvendsenLeslie M. ThompsonHemali Phatnani, PhDJustin Kwan, MDDhruv Sareen, PhDJames R. Broach, PhDZachary Simmons, MDXimena Arcila-Londono, MDEdward B. Lee, MD, PhDVivianna M. Van Deerlin, MD, PhDNeil A. Shneider, MD, PhDErnest Fraenkel, PhDLyle W. Ostrow, MD, PhDFrank Baas, MD, PhDNoah Zaitlen, PhDJames D. Berry, MD, MPHAndrea Malaspina, MD, PhDPietro Fratta, MD, PhDGregory A. Cox, PhDLeslie M. Thompson, PhDSteve Finkbeiner, MD, PhDEfthimios Dardiotis, MD, PhDTimothy M. Miller, MD, PhDSiddharthan Chandran, PhDSuvankar Pal, MDEran Hornstein, MD, PhDDaniel J. MacGowan, MDTerry Heiman-Patterson, MDMolly G. Hammell, PhDNikolaos.A. Patsopoulos, MD, PhDOleg Butovsky, PhDJoshua Dubnau, PhDAvindra Nath, MDRobert Bowser, PhDMatt Harms, MDMary Poss, DVM, PhDJennifer Phillips-Cremins, PhDJohn Crary, MD, PhDNazem Atassi, MDDale J. Lange, MDDarius J. Adams, MDLeonidas Stefanis, MD, PhDMarc Gotkine, MDRobert H. Baloh, MD. PhDSuma Babu, MBBS, MPHTowfique Raj, PhDSabrina Paganoni, MD, PhDOphir Shalem, PhDColin Smith, MDBin Zhang, PhDBrent Harris, MD, PhDIris Broce, PhDVivian Drory, MDJohn Ravits, MDCorey McMillan, PhDVilas Menon, PhDLani Wu, PhDSteven Altschuler, PhD
iScience, Vol 24, Iss 11, Pp 103221- (2021)
Academic Journal
van Rheenen W.van der Spek R. A. A.Bakker M. K.van Vugt J. J. F. A.Hop P. J.Zwamborn R. A. J.de Klein N.Westra H. -J.Bakker O. B.Deelen P.Shireby G.Hannon E.Moisse M.Baird D.Restuadi R.Dolzhenko E.Dekker A. M.Gawor K.Westeneng H. -J.Tazelaar G. H. P.van Eijk K. R.Kooyman M.Byrne R. P.Doherty M.Heverin M.Al Khleifat A.Iacoangeli A.Shatunov A.Ticozzi N.Cooper-Knock J.Smith B. N.Gromicho M.Chandran S.Pal S.Morrison K. E.Shaw P. J.Hardy J.Orrell R. W.Sendtner M.Meyer T.Basak N.van der Kooi A. J.Ratti A.Fogh I.Gellera C.Lauria G.Corti S.Cereda C.Sproviero D.D'Alfonso S.Soraru G.Siciliano G.Filosto M.Padovani A.Chio A.Calvo A.Moglia C.Brunetti M.Canosa A.Grassano M.Beghi E.Pupillo E.Logroscino G.Nefussy B.Osmanovic A.Nordin A.Lerner Y.Zabari M.Gotkine M.Baloh R. H.Bell S.Vourc'h P.Corcia P.Couratier P.Millecamps S.Meininger V.Salachas F.Mora Pardina J. S.Assialioui A.Rojas-Garcia R.Dion P. A.Ross J. P.Ludolph A. C.Weishaupt J. H.Brenner D.Freischmidt A.Bensimon G.Brice A.Durr A.Payan C. A. M.Saker-Delye S.Wood N. W.Topp S.Rademakers R.Tittmann L.Lieb W.Franke A.Ripke S.Braun A.Kraft J.Whiteman D. C.Olsen C. M.Uitterlinden A. G.Hofman A.Rietschel M.Cichon S.Nothen M. M.Amouyel P.Comi G.Riva N.Lunetta C.Gerardi F.Cotelli M. S.Rinaldi F.Chiveri L.Guaita M. C.Perrone P.Ceroni M.Diamanti L.Ferrarese C.Tremolizzo L.Delodovici M. L.Bono G.Manera U.Vasta R.Bombaci A.Casale F.Fuda G.Salamone P.Iazzolino B.Peotta L.Cugnasco P.De Marco G.Torrieri M. C.Palumbo F.Gallone S.Barberis M.Sbaiz L.Gentile S.Mauro A.Mazzini L.De Marchi F.Corrado L.Bertolotto A.Gionco M.Leotta D.Odddenino E.Imperiale D.Cavallo R.Pignatta P.De Mattei M.Geda C.Papurello D. M.Gusmaroli G.Comi C.Labate C.Ruiz L.Ferrandi D.Rota E.Aguggia M.Di Vito N.Meineri P.Ghiglione P.Launaro N.Dotta M.Di Sapio A.Giardini G.Tiloca C.Peverelli S.Taroni F.Pensato V.Castellotti B.Comi G. P.Del Bo R.Gagliardi S.Raggi F.Simoncini C.Lo Gerfo A.Inghilleri M.Ferlini A.Simone I. L.Passarella B.Guerra V.Zoccolella S.Nozzoli C.Mundi C.Leone M.Zarrelli M.Tamma F.Valluzzi F.Calabrese G.Boero G.Rini A.Traynor B. J.Singleton A. B.Mitne Neto M.Cauchi R. J.Ophoff R. A.Wiedau-Pazos M.Lomen-Hoerth C.van Deerlin V. M.Grosskreutz J.Roediger A.Gaur N.Jork A.Barthel T.Theele E.Ilse B.Stubendorff B.Witte O. W.Steinbach R.Hubner C. A.Graff C.Brylev L.Fominykh V.Demeshonok V.Ataulina A.Rogelj B.Koritnik B.Zidar J.Ravnik-Glavac M.Glavac D.Stevic Z.Drory V.Povedano M.Blair I. P.Kiernan M. C.Benyamin B.Henderson R. D.Furlong S.Mathers S.McCombe P. A.Needham M.Ngo S. T.Nicholson G. A.Pamphlett R.Rowe D. B.Steyn F. J.Williams K. L.Mather K. A.Sachdev P. S.Henders A. K.Wallace L.de Carvalho M.Pinto S.Petri S.Weber M.Rouleau G. A.Silani V.Curtis C. J.Breen G.Glass J. D.Brown R. H.Landers J. E.Shaw C. E.Andersen P. M.Groen E. J. N.van Es M. A.Pasterkamp R. J.Fan D.Garton F. C.McRae A. F.Davey Smith G.Gaunt T. R.Eberle M. A.Mill J.McLaughlin R. L.Hardiman O.Kenna K. P.Wray N. R.Tsai E.Runz H.Franke L.Al-Chalabi A.Van Damme P.van den Berg L. H.Veldink J. H.
Academic Journal
In: Annals of Clinical and Translational Neurology. (Annals of Clinical and Translational Neurology, August 2025, 12(8):1702-1705)
Academic Journal
Johnson, Janel OChia, RuthMiller, Danny ELi, RachelKumaran, RavindranAbramzon, YevgeniyaAlahmady, NadaRenton, Alan ETopp, Simon DGibbs, J RaphaelCookson, Mark RManganelli, FioreMarangi, GiuseppeMarinou, KalliopiMarrosu, Maria GiovannaMartinelli, IlariaTienari, Pentti JMessina, SoniaMoglia, CristinaMora, GabrieleBrown, Robert HRogaeva, EkaterinaMosca, LorenaMurru, Maria ROrigone, PaolaPassaniti, CarlaPetrelli, CristinaPetrucci, AntonioPozzi, SusannaMorrison, Karen EPugliatti, MauraQuattrini, AngeloRollinson, SaraSilani, VincenzoRicci, ClaudiaRiolo, GiuliaRiva, NiloRusso, MassimoSabatelli, MarioSalamone, PaolinaSalivetto, MarcoSalvi, FabrizioShaw, Pamela JRothstein, Jeffrey DSantarelli, MarialuisaSabir, Marya SSbaiz, LucaSideri, RiccardoSimone, IsabellaSimonini, CeciliaSpataro, RossellaTanel, RaffaellaTedeschi, GioacchinoTicca, AnnaScholz, Sonja WTorriello, AntonellaAl-Chalabi, AmmarShaw, Christopher ETranquilli, StefaniaTremolizzo, LucioTrojsi, FrancescaVasta, RosarioVacchiano, VeriaVita, GiuseppeVolanti, PaoloSendtner, MichaelZollino, MarcellaZucchi, ElisabettaLanders, John ECalvo, AndreaAl-Saif, HindGotkine, MarcLeigh, FawnChang, Irene JPerlman, Seth JGlass, IanScott, Anna IDalgard, Clifton LBasak, A NazliChiò, AdrianoCrawford, Thomas OSmith, Bradley NSidle, Katie CTraynor, Bryan JFALS Sequencing ConsortiumAmerican Genome CenterInternational ALS Genomics Consortiumand ITALSGEN ConsortiumTicozzi, NicolaFallini, ClaudiaAdeleye, AdelaniGkazi, Athina SoragiaScotter, Emma LKenna, Kevin PSimmons, ZacharyKeagle, PamelaTiloca, CinziaVance, CarolineTroakes, ClaireColombrita, ClaudiaKing, AndrewSoltis, Anthony RPensato, VivianaCastellotti, BarbaraBaas, FrankSingleton, Andrew BTen Asbroek, Anneloor L M AMcKenna-Yasek, DianeMcLaughlin, Russell LPolak, MeraidaAsress, SeneshawEsteban-Pérez, JesúsStevic, ZoricaAlba, CamilleD'Alfonso, SandraMazzini, LetiziaComi, Giacomo PDel Bo, RobertoCeroni, MauroGagliardi, StellaQuerin, GiorgiaBertolin, Cinziavan Rheenen, WouterRademakers, RosaViollet, Coralievan Blitterswijk, MarkaTurner, Martin RLauria, GiuseppeDuga, StefanoCorti, StefaniaCereda, CristinaCorrado, LuciaSorarù, GianniWilliams, Kelly LNicholson, Garth ABlair, Ian PBacikova, DagmarSmith, NathanLeblond-Manry, ClaireRouleau, Guy AHardiman, OrlaVeldink, Jan Hvan den Berg, Leonard HPall, HardevHupalo, Daniel NStone, David JSukumar, GauthamanPollard, Harvey BWilkerson, Matthew DMartinez, Elisa McGrathAhmed, SarahArepalli, SampathBaloh, Robert HBowser, RobertBrady, Christopher BBrice, AlexisBroach, JamesCampbell, Roy HCamu, WilliamCooper-Knock, JohnDing, JinhuiDrepper, CarstenTroncoso, Juan CDrory, Vivian EDunckley, Travis LEicher, John DJones, Ashley REngland, Bryce KFaghri, FarazFeldman, EvaFloeter, Mary KayFratta, PietroGeiger, Joshua TValori, MikoGerhard, GlennGibson, Summer BGlass, Jonathan DShatunov, AlekseyHardy, JohnHarms, Matthew BHeiman-Patterson, Terry DHernandez, Dena GJansson, LiljaVan Damme, PhilipKirby, JanineKowall, Neil WLaaksovirta, HannuLandeck, NatalieLandi, FrancescoIacoangeli, AlfredoLe Ber, IsabelleLumbroso, SergeMacGowan, Daniel J LMaragakis, Nicholas JVan Deerlin, Vivianna MMouzat, KevinMurphy, Natalie AMyllykangas, LiisaNalls, Mike AOrrell, Richard WAl Khleifat, AhmadOstrow, Lyle WPamphlett, RogerPickering-Brown, StuartVan Den Bosch, LudoPioro, Erik PPletnikova, OlgaPliner, Hannah APulst, Stefan MRavits, John MRivera, AlbertoRobberecht, WimZinman, LorneTalbot, KevinGellera, CinziaAngelocola, Stefania MAusiello, Francesco PBarberis, MarcoBartolomei, IlariaBattistini, StefaniaBersano, EnricaBisogni, GiuliaTaroni, FrancoBorghero, GiuseppeBrunetti, MauraCabona, CorradoCanale, FabrizioCanosa, AntonioCantisani, Teresa ACapasso, MargheritaCaponnetto, ClaudiaGarcía-Redondo, AlbertoCardinali, PatrizioCarrera, PaolaDobson-Stone, CarolCasale, FedericoColletti, TizianaConforti, Francesca LConte, AmeliaConti, ElisaCorbo, MassimoWu, ZheyangCuccu, StefaniaDalla Bella, EleonoraD'Errico, EustachioKwok, John BDeMarco, GiovanniDubbioso, RaffaeleFerrarese, CarloFerraro, Pilar MFilippi, MassimoFini, NicolaFloris, GianlucaFuda, GiuseppeGallone, SalvatoreGianferrari, GiuliaBonkowski, Emily SGiannini, FabioGrassano, MaurizioGreco, LuciaIazzolino, BarbaraIntrona, AlessandroLa Bella, VincenzoLattante, SerenaLiguori, RoccoLogroscino, GiancarloPalvadeau, RobinLogullo, Francesco OLunetta, ChristianMandich, PaolaMandrioli, JessicaRatti, AntoniaManera, Umberto
JAMA Neurol
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Johnson, J O, Chia, R, Miller, D E, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, A E, Topp, S D, Gibbs, J R, Cookson, M R, Sabir, M S, Dalgard, C L, Troakes, C, Jones, A R, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, I P, Dobson-Stone, C, Kwok, J B, Bonkowski, E S, Palvadeau, R, Tienari, P J, Morrison, K E, Shaw, P J, Al-Chalabi, A, Brown, R H, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, I J, Perlman, S J, Glass, I, Scott, A I, Shaw, C E, Basak, A N, Landers, J E, Chiò, A, Crawford, T O, Smith, B N, Traynor, B J, Smith, B N, Ticozzi, N, Fallini, C, Gkazi, A S, Topp, S D, Scotter, E L, Kenna, K P, Keagle, P, Tiloca, C, Vance, C, Troakes, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, Ten Asbroek, A L M A, McKenna-Yasek, D, McLaughlin, R L, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D'Alfonso, S, Mazzini, L, Comi, G P, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, Van Rheenen, W, Rademakers, R, Van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, K L, Nicholson, G A, Blair, I P, Leblond-Manry, C, Rouleau, G A, Hardiman, O, Morrison, K E, Veldink, J H, Van Den Berg, L H, Al-Chalabi, A, Pall, H, Shaw, P J, Turner, M R, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, J D, Gellera, C, Ratti, A, Brown, R H, Silani, V, Shaw, C E, Landers, J E, Dalgard, C L, Adeleye, A, Soltis, A R, Alba, C, Viollet, C, Bacikova, D, Hupalo, D N, Sukumar, G, Pollard, H B, Wilkerson, M D, Martinez, E M G, Abramzon, Y, Ahmed, S, Arepalli, S, Baloh, R H, Bowser, R, Brady, C B, Brice, A, Broach, J, Campbell, R H, Camu, W, Chia, R, Cooper-Knock, J, Ding, J, Drepper, C, Drory, V E, Dunckley, T L, Eicher, J D, England, B K, Faghri, F, Feldman, E, Floeter, M K, Fratta, P, Geiger, J T, Gerhard, G, Gibbs, J R, Gibson, S B, Glass, J D, Hardy, J, Harms, M B, Heiman-Patterson, T D, Hernandez, D G, Jansson, L, Kirby, J, Kowall, N W, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, Macgowan, D J L, Maragakis, N J, Mora, G, Mouzat, K, Murphy, N A, Myllykangas, L, Nalls, M A, Orrell, R W, Ostrow, L W, Pamphlett, R, Pickering-Brown, S, Pioro, E P, Pletnikova, O, Pliner, H A, Pulst, S M, Ravits, J M, Renton, A E, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, J D, Scholz, S W, Sendtner, M, Shaw, P J, Sidle, K C, Simmons, Z, Singleton, A B, Smith, N, Stone, D J, Tienari, P J, Troncoso, J C, Valori, M, Van Damme, P, Van Deerlin, V M, Van Den Bosch, L, Zinman, L, Landers, J E, Chiò, A, Traynor, B J, Angelocola, S M, Ausiello, F P, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Calvo, A, Canale, F, Canosa, A, Cantisani, T A, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Chiò, A, Colletti, T, Conforti, F L, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D'Errico, E, Demarco, G, Dubbioso, R, Ferrarese, C, Ferraro, P M, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Lauria, G, Liguori, R, Logroscino, G, Logullo, F O, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, M G, Martinelli, I, Messina, S, Moglia, C, Mora, G, Mosca, L, Murru, M R, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M & Zucchi, E 2021, 'Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis', JAMA Neurology, vol. 78, no. 10, pp. 1236-1248. https://doi.org/10.1001/jamaneurol.2021.2598
JAMA Neurology
ITALSGEN Consortium, International ALS Genomics Consortium, American Genome Center & FALS Sequencing Consortium 2021, 'Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis', JAMA Neurology, vol. 78, no. 10, pp. 1236-1248. https://doi.org/10.1001/jamaneurol.2021.2598
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