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

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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

Title: Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family
Author: Palmio, Johanna; Evilä, Anni; Bashir, Ayat; Norwood, Fiona; Viitaniemi, Kati; Vihola, Anna; Huovinen, Sanna; Straub, Volker; Hackman, Peter; Hirano, Michio; Bushby, Kate; Udd, Bjarne
Contributor organization: Department of Medical and Clinical Genetics
Medicum
Date: 2016-04
Language: eng
Number of pages: 3
Belongs to series: Journal of Neurology, Neurosurgery and Psychiatry
ISSN: 0022-3050
DOI: https://doi.org/10.1136/jnnp-2014-309349
URI: http://hdl.handle.net/10138/161264
Subject: AMYOTROPHIC-LATERAL-SCLEROSIS
DOMINANT DISTAL MYOPATHY
FRONTOTEMPORAL DEMENTIA
ALS
PROTEIN
3112 Neurosciences
3124 Neurology and psychiatry
3126 Surgery, anesthesiology, intensive care, radiology
Peer reviewed: Yes
Usage restriction: openAccess
Self-archived version: publishedVersion


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