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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

dc.contributor.authorPark, Jen_US
dc.contributor.authorTucci, Aen_US
dc.contributor.authorCipriani, Ven_US
dc.contributor.authorDemidov, Gen_US
dc.contributor.authorRocca, Cen_US
dc.contributor.authorSenderek, Jen_US
dc.contributor.authorButryn, Men_US
dc.contributor.authorVelic, Aen_US
dc.contributor.authorLam, Ten_US
dc.contributor.authorGalanaki, Een_US
dc.contributor.authorCali, Een_US
dc.contributor.authorVestito, Len_US
dc.contributor.authorMaroofian, Ren_US
dc.contributor.authorDeininger, Nen_US
dc.contributor.authorRautenberg, Men_US
dc.contributor.authorAdmard, Jen_US
dc.contributor.authorHahn, G-Aen_US
dc.contributor.authorBartels, Cen_US
dc.contributor.authorvan Os, NJHen_US
dc.contributor.authorHorvath, Ren_US
dc.contributor.authorChinnery, PFen_US
dc.contributor.authorTiet, MYen_US
dc.contributor.authorHewamadduma, Cen_US
dc.contributor.authorHadjivassiliou, Men_US
dc.contributor.authorTofaris, GKen_US
dc.contributor.authorWood, NWen_US
dc.contributor.authorHayer, SNen_US
dc.contributor.authorBender, Fen_US
dc.contributor.authorMenden, Ben_US
dc.contributor.authorCordts, Ien_US
dc.contributor.authorKlein, Ken_US
dc.contributor.authorHuu, PNen_US
dc.contributor.authorKrauss, JKen_US
dc.contributor.authorBlahak, Cen_US
dc.contributor.authorStrom, TMen_US
dc.contributor.authorSturm, Men_US
dc.contributor.authorvan de Warrenburg, Ben_US
dc.contributor.authorLerche, Hen_US
dc.contributor.authorMacek, Ben_US
dc.contributor.authorSynofzik, Men_US
dc.contributor.authorOssowski, Sen_US
dc.contributor.authorTimmann, Den_US
dc.contributor.authorWolf, MEen_US
dc.contributor.authorSmedley, Den_US
dc.contributor.authorRiess, Oen_US
dc.contributor.authorSchoels, Len_US
dc.contributor.authorHoulden, Hen_US
dc.contributor.authorHaack, TBen_US
dc.contributor.authorHengel, Hen_US
dc.date.accessioned2023-07-10T15:50:57Z
dc.date.available2022-07-03en_US
dc.date.issued2022en_US
dc.identifier.issn1098-3600en_US
dc.identifier.urihttps://qmro.qmul.ac.uk/xmlui/handle/123456789/89469
dc.format.extent2079 - 2090en_US
dc.relation.ispartofGENETICS IN MEDICINEen_US
dc.subjectGene burdenen_US
dc.subjectProteomicsen_US
dc.subjectSpastic ataxiaen_US
dc.subjectUCHL1en_US
dc.titleHeterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyen_US
dc.typeArticle
dc.identifier.doi10.1016/j.gim.2022.07.006en_US
pubs.author-urlhttps://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000879580900009&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=612ae0d773dcbdba3046f6df545e9f6aen_US
pubs.issue10en_US
pubs.notesNot knownen_US
pubs.publication-statusPublisheden_US
pubs.volume24en_US


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