Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
Zhang S, Cooper-Knock J, Weimer A, Shi M, Moll T, Marshall J, Harvey C, Nezhad H, Franklin J, dos Santos Souza C, Ning K, Wang C, Li J, Dilliott A, Farhan S, Elhaik E, Pasniceanu I, Livesey M, Eitan C, Hornstein E, Kenna K, Consortium P, Blair I, Wray N, Kiernan M, Neto M, Chio A, Cauchi R, Robberecht W, van Damme P, Corcia P, Couratier P, Hardiman O, McLaughin R, Gotkine M, Drory V, Ticozzi N, Silani V, Veldink J, van den Berg L, de Carvalho M, Pardina J, Povedano M, Andersen P, Weber M, Başak N, Al-Chalabi A, Shaw C, Shaw P, Morrison K, Landers J, Glass J, Veldink J, Ferraiuolo L, Shaw P, Snyder M. Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis. Neuron 2022, 110: 992-1008.e11. PMID: 35045337, PMCID: PMC9017397, DOI: 10.1016/j.neuron.2021.12.019.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenetic basisGenome-wide association study summary statisticsEpigenetic profilesAmyotrophic lateral sclerosisAmyotrophic lateral sclerosis genesComplex diseasesGenome-wide identificationRare variant analysisALS-associated genesTDP-43 mislocalizationGene discoveryFunctional genomicsAssociation studiesExtensive conservationCandidate genesGenetic convergencePathology of amyotrophic lateral sclerosisDiseased motor neuronsPatient mutationsVariant analysisLateral sclerosisTDP-43GenesKANK1
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