Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Marianela SchiavaChiseko IkenagaRocío Nur Villar-QuilesMarta Caballero-ÁvilaAna TopfIchizo NishinoVirginia KimonisBjarne UddBenedikt SchoserEdmar ZanoteliPaulo Victor Sgobbi de SouzaGiorgio TascaThomas LloydAdolfo Lopez-de MunainCarmen ParadasElena PegoraroAleksandra Nadaj-PaklezaJan De BleeckerUmesh BadrisingAlicia Alonso-JiménezAnna Kostera-PruszczykFrancesc MirallesJin-Hong ShinJorge Alfredo BevilacquaMontse OlivéMatthias VorgerdRudi KleyStefen BradyTimothy WilliamsCristina Domínguez-GonzálezGeorge K PapadimasJodi Warman-ChardonKristl G ClaeysMarianne de VisserNuria MuelasPascal LaForetEdoardo MalfattiLindsay N AlfanoSruthi S NairGeorgios ManousakisHani A KushlafMatthew B HarmsChristopher NanceAlba Ramos-FransiCarmelo RodolicoChanna HewamaddumaHakan CetinJorge García-GarcíaEndre PálMaria Elena FarrugiaPhillipa J LamontColin QuinnVelina Nedkova-HristovaStojan PericSu-Shan LuoAnders OldforsKate TaylorStuart RalstonTanya StojkovicConrad C WeihlJordi Díaz-Maneranull nullnull nullPublished in: Journal of neurology, neurosurgery, and psychiatry (2022)
This study expands the knowledge on the phenotypic presentation, natural history, genotype-phenotype correlations and risk factors for disease progression of VCP disease and is useful to improve the care provided to patient with this complex disease.