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- [22] SQSTM1/p62 variants in 486 patients with familial ALS from Germany and SwedenNEUROBIOLOGY OF AGING, 2020, 87 : 139.e9 - 139.e15Yilmaz, RuestemMueller, KathrinBrenner, DavidVolk, Alexander E.Borck, GuntramHermann, AndreasMeitinger, ThomasStrom, Tim M.Danzer, Karin M.Ludolph, Albert C.Andersen, Peter M.Weishaupt, Jochen H.
- [23] Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test ResultsJOURNAL OF GENETIC COUNSELING, 2015, 24 (04) : 553 - 557Mandich, PaolaMantero, VittorioVerdiani, SimonettaGotta, FabioCaponnetto, ClaudiaBellone, EmiliaFerrandes, GiovannaOrigone, Paola
- [24] Survival in patients with familial and sporadic myeloproliferative neoplasmsBLOOD, 2015, 125 (23) : 3665 - 3666Hultcrantz, MalinLund, Sigrun H.Landgren, OlaSamuelsson, JanGoldin, Lynn R.Oddsson, AsmundurBjorkholm, MagnusKristinsson, Sigurdur Y.
- [25] Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALSNATURE NEUROSCIENCE, 2015, 18 (08) : 1175 - +Prudencio, MercedesBelzil, Veronique V.Batra, RanjanRoss, Christian A.Gendron, Tania F.Pregent, Luc J.Murray, Melissa E.Overstreet, Karen K.Piazza-Johnston, Amelia E.Desaro, PamelaBieniek, Kevin F.DeTure, MichaelLee, Wing C.Biendarra, Sherri M.Davis, Mary D.Baker, Matthew C.Perkerson, Ralph B.van Blitterswijk, MarkaStetler, Caroline T.Rademakers, RosaLink, Christopher D.Dickson, Dennis W.Boylan, Kevin B.Li, HuPetrucelli, Leonard
- [26] Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALSAMYOTROPHIC LATERAL SCLEROSIS, 2009, 10 (5-6): : 432 - 435Martin, IsabelleVourc'h, PatrickMahe, MarieThepault, Rose-AnneAntar, CatherineVedrine, SylvianePraline, JulienCamu, WilliamAndres, Christian R.Corcia, Philippe
- [27] C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS populationNEUROBIOLOGY OF AGING, 2012, 33 (08) : e15 - e20Sabatelli, MarioConforti, Francesca LuisaZollino, MarcellaMora, GabrieleMonsurro, Maria RosariaVolanti, PaoloMarinou, KalliopiSalvi, FabrizioCorbo, MassimoGiannini, FabioBattistini, StefaniaPenco, SilvanaLunetta, ChristianQuattrone, AldoGambardella, AntonioLogroscino, GiancarloSimone, IsabellaBartolomei, IlariaPisano, FabrizioTedeschi, GioacchinoConte, AmeliaSpataro, RossellaLa Bella, VincenzoCaponnetto, ClaudiaMancardi, GianluigiMandich, PaolaSola, PatriziaMandrioli, JessicaRenton, Alan E.Majounie, ElisaAbramzon, YevgeniyaMarrosu, FrancescoMarrosu, Maria GiovannaMurru, Maria RitaSotgiu, Maria AlessandraPugliatti, MauraRodolico, CarmeloMoglia, CristinaCalvo, AndreaOssola, IreneBrunetti, MauraTraynor, Bryan J.Borghero, GiuseppeRestagno, GabriellaChio, Adriano
- [28] Modeling sporadic ALS in iPSC-derived motor neurons identifies a potential therapeutic agentNATURE MEDICINE, 2018, 24 (10) : 1579 - +Fujimori, KokiIshikawa, MitsuruOtomo, AsakoAtsuta, NaokiNakamura, RyoichiAkiyama, TetsuyaHadano, ShinjiAoki, MasashiSaya, HideyukiSobue, GenOkano, Hideyuki
- [29] Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALSPLOS ONE, 2012, 7 (04):Diekstra, Frank P.Saris, Christiaan G. J.van Rheenen, WouterFranke, LudeJansen, Ritsert C.van Es, Michael A.van Vught, Paul W. J.Blauw, Hylke M.Groen, Ewout J. N.Horvath, SteveEstrada, KarolRivadeneira, FernandoHofman, AlbertUitterlinden, Andre G.Robberecht, WimAndersen, Peter M.Melki, JudithMeininger, VincentHardiman, OrlaLanders, John E.Brown, Robert H., Jr.Shatunov, AlekseyShaw, Christopher E.Leigh, P. NigelAl-Chalabi, AmmarOphoff, Roel A.van den Berg, Leonard H.Veldink, Jan H.
- [30] Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementiaNATURE NEUROSCIENCE, 2015, 18 (05) : 631 - +Freischmidt, AxelWieland, ThomasRichter, BenjaminRuf, WolfgangSchaeffer, VeroniqueMueller, KathrinMarroquin, NicolaiNordin, FridaHuebers, AnnemarieWeydt, PatrickPinto, SusanaPress, RayomondMillecamps, StephanieMolko, NicolasBernard, EmilienDesnuelle, ClaudeSoriani, Marie-HeleneDorst, JohannesGraf, ElisabethNordstrom, UlrikaFeiler, Marisa S.Putz, StefanBoeckers, Tobias M.Meyer, ThomasWinkler, Andrea S.Winkelman, Julianede Carvalho, MamedeThal, Dietmar R.Otto, MarkusBrannstrom, ThomasVolk, Alexander E.Kursula, PetriDanzer, Karin M.Lichtner, PeterDikic, IvanMeitinger, ThomasLudolph, Albert C.Strom, Tim M.Andersen, Peter M.Weishaupt, Jochen H.