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

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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

Titel: Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy
Författare: Sainio, Markus T.; Välipakka, Salla; Rinaldi, Bruno; Lapatto, Helena; Paetau, Anders; Ojanen, Simo; Brilhante, Virginia; Jokela, Manu; Huovinen, Sanna; Auranen, Mari; Palmio, Johanna; Friant, Sylvia; Ylikallio, Emil; Udd, Bjarne; Tyynismaa, Henna
Medarbetare: University of Helsinki, Centre of Excellence in Stem Cell Metabolism
University of Helsinki, Medicum
University of Helsinki, Centre of Excellence in Stem Cell Metabolism
University of Helsinki, HUSLAB
University of Helsinki, Veterinary Biosciences
University of Helsinki, Research Programme for Molecular Neurology
University of Helsinki, Department of Neurosciences
University of Helsinki, STEMM - Stem Cells and Metabolism Research Program
University of Helsinki, STEMM - Stem Cells and Metabolism Research Program
Datum: 2019
Språk: eng
Sidantal: 8
Tillhör serie: Journal of Neurology
ISSN: 0340-5354
Permanenta länken (URI): http://hdl.handle.net/10138/298804
Subject: 3112 Neurosciences
3124 Neurology and psychiatry
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