Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Emily C OatesKristi J JonesSandra DonkervoortAmanda CharltonSusan BrammahJohn Edward SmithJames S WareKyle S YauLindsay C SwansonNicola WhiffinAnthony J PedutoAdam M BournazosLeigh B WaddellMichelle A FarrarHugo A SampaioHooi Ling TeohPhillipa J LamontDavid MowatRobin B FitzsimonsAlastair J CorbettMonique M RyanGina L O'GradySarah A SandaraduraRoula GhaouiHimanshu JoshiJamie L MarshallMelinda A NolanSimranpreet KaurJaya PunethaAna TöpfElizabeth HarrisMadhura BakshiCasie A GenettiMinttu MarttilaUlla WerlauffNathalie StreichenbergerAlan PestronkIngrid MazantiJason R PinnerCarole VuillerotCarla GrosmannAna CamachoPayam MohasselMeganne E LeachA Reghan FoleyDiana Bharucha-GoebelJames CollinsAnne M ConnollyHeather R GilbreathSusan T IannacconeDiana CastroBeryl B CummingsRichard I WebsterLeïla LazaroJohn VissingSandra CoppensNicolas DeconinckHo-Ming LukNeil H ThomasNicola C FouldsMarjorie A IllingworthSian EllardCatriona A McLeanRahul PhadkeGianina RavenscroftNanna WittingPeter HackmanIsabelle RichardSandra T CooperErik-Jan KamsteegEric P HoffmanKate BushbyVolker StraubBjarne UddAna FerreiroKathryn N NorthNigel F ClarkeMonkol LekAlan H BeggsCarsten G BönnemannDaniel G MacArthurHenk GranzierMark R DavisNigel G LaingPublished in: Annals of neurology (2019)
This detailed clinical reference dataset will greatly facilitate diagnostic confirmation and management of patients, and has provided important insights into disease pathogenesis. Ann Neurol 2018;83:1105-1124.
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