Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family

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dc.contributor University of Helsinki, Department of Medical and Clinical Genetics en
dc.contributor University of Helsinki, Department of Medical and Clinical Genetics en
dc.contributor University of Helsinki, Department of Medical and Clinical Genetics en
dc.contributor University of Helsinki, Department of Medical and Clinical Genetics en
dc.contributor.author Palmio, Johanna
dc.contributor.author Evilä, Anni
dc.contributor.author Bashir, Ayat
dc.contributor.author Norwood, Fiona
dc.contributor.author Viitaniemi, Kati
dc.contributor.author Vihola, Anna
dc.contributor.author Huovinen, Sanna
dc.contributor.author Straub, Volker
dc.contributor.author Hackman, Peter
dc.contributor.author Hirano, Michio
dc.contributor.author Bushby, Kate
dc.contributor.author Udd, Bjarne
dc.date.accessioned 2016-04-18T11:47:01Z
dc.date.available 2016-04-18T11:47:01Z
dc.date.issued 2016-04
dc.identifier.citation Palmio , J , Evilä , A , Bashir , A , Norwood , F , Viitaniemi , K , Vihola , A , Huovinen , S , Straub , V , Hackman , P , Hirano , M , Bushby , K & Udd , B 2016 , ' Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family ' , Journal of Neurology, Neurosurgery and Psychiatry , vol. 87 , no. 4 , pp. 448-450 . https://doi.org/10.1136/jnnp-2014-309349 en
dc.identifier.issn 0022-3050
dc.identifier.other PURE: 62170211
dc.identifier.other PURE UUID: 350130cf-b87b-491c-93fb-4d2df533c4d6
dc.identifier.other WOS: 000372294000019
dc.identifier.other Scopus: 84930526442
dc.identifier.uri http://hdl.handle.net/10138/161264
dc.format.extent 3
dc.language.iso eng
dc.relation.ispartof Journal of Neurology, Neurosurgery and Psychiatry
dc.rights en
dc.subject AMYOTROPHIC-LATERAL-SCLEROSIS en
dc.subject DOMINANT DISTAL MYOPATHY en
dc.subject FRONTOTEMPORAL DEMENTIA en
dc.subject ALS en
dc.subject PROTEIN en
dc.subject 3112 Neurosciences en
dc.subject 3124 Neurology and psychiatry en
dc.subject 3126 Surgery, anesthesiology, intensive care, radiology en
dc.title Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family en
dc.type Article
dc.description.version Peer reviewed
dc.identifier.doi https://doi.org/10.1136/jnnp-2014-309349
dc.type.uri info:eu-repo/semantics/other
dc.type.uri info:eu-repo/semantics/publishedVersion
dc.contributor.pbl
dc.contributor.pbl

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