Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

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dc.contributor University of Helsinki, Centre of Excellence in Stem Cell Metabolism en
dc.contributor University of Helsinki, Medicum en
dc.contributor University of Helsinki, Centre of Excellence in Stem Cell Metabolism en
dc.contributor University of Helsinki, HUSLAB en
dc.contributor University of Helsinki, Veterinary Biosciences en
dc.contributor University of Helsinki, Research Programme for Molecular Neurology en
dc.contributor University of Helsinki, Department of Neurosciences en
dc.contributor University of Helsinki, STEMM - Stem Cells and Metabolism Research Program en
dc.contributor University of Helsinki, STEMM - Stem Cells and Metabolism Research Program en
dc.contributor.author Sainio, Markus T.
dc.contributor.author Välipakka, Salla
dc.contributor.author Rinaldi, Bruno
dc.contributor.author Lapatto, Helena
dc.contributor.author Paetau, Anders
dc.contributor.author Ojanen, Simo
dc.contributor.author Brilhante, Virginia
dc.contributor.author Jokela, Manu
dc.contributor.author Huovinen, Sanna
dc.contributor.author Auranen, Mari
dc.contributor.author Palmio, Johanna
dc.contributor.author Friant, Sylvia
dc.contributor.author Ylikallio, Emil
dc.contributor.author Udd, Bjarne
dc.contributor.author Tyynismaa, Henna
dc.date.accessioned 2019-02-08T08:07:01Z
dc.date.available 2019-02-08T08:07:01Z
dc.date.issued 2019
dc.identifier.citation Sainio , M T , Välipakka , S , Rinaldi , B , Lapatto , H , Paetau , A , Ojanen , S , Brilhante , V , Jokela , M , Huovinen , S , Auranen , M , Palmio , J , Friant , S , Ylikallio , E , Udd , B & Tyynismaa , H 2019 , ' Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy ' , Journal of Neurology , vol. 266 , pp. 353-360 . https://doi.org/10.1007/s00415-018-9137-8 en
dc.identifier.issn 0340-5354
dc.identifier.other PURE: 121937178
dc.identifier.other PURE UUID: 6caccafb-a091-47c3-a179-4f3184f8d2af
dc.identifier.other Scopus: 85057994708
dc.identifier.other ORCID: /0000-0002-2493-2422/work/53825752
dc.identifier.other ORCID: /0000-0001-5178-0703/work/53826679
dc.identifier.other ORCID: /0000-0002-9197-1288/work/53828160
dc.identifier.other ORCID: /0000-0003-3339-5742/work/53828639
dc.identifier.other WOS: 000458151200009
dc.identifier.uri http://hdl.handle.net/10138/298804
dc.format.extent 8
dc.language.iso eng
dc.relation.ispartof Journal of Neurology
dc.relation.uri https://rdcu.be/blNu6
dc.rights en
dc.subject 3112 Neurosciences en
dc.subject 3124 Neurology and psychiatry en
dc.title Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy en
dc.type Article
dc.description.version Peer reviewed
dc.description.version Non Peer reviewed
dc.identifier.doi https://doi.org/10.1007/s00415-018-9137-8
dc.type.uri info:eu-repo/semantics/other
dc.type.uri info:eu-repo/semantics/publishedVersion
dc.type.uri http://purl.org/eprint/status/NonPeerReviewed
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