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Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Year of publication

2021

Authors

Johari, Mridul; Sarparanta, Jaakko; Vihola, Anna; Jonson, Per Harald; Savarese, Marco; Jokela, Manu; Torella, Annalaura; Piluso, Giulio; Said, Edith; Vella, Norbert; Cauchi, Marija; Magot, Armelle; Magri, Francesca; Mauri, Eleonora; Kornblum, Cornelia; Reimann, Jens; Stojkovic, Tanya; Romero, Norma B.; Luque, Helena; Huovinen, Sanna; Lahermo, Päivi; Donner, Kati; Comi, Giacomo Pietro; Nigro, Vincenzo; Hackman, Peter; Udd, Bjarne
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Organizations and authors

Tampere University

Vihola Anna

Udd Bjarne

Jokela Manu

University of Helsinki

Vihola Anna

Udd Bjarne

Luque Helena

Sarparanta Jaakko

Donner Kati

Savarese Marco

Johari Mridul

Jonson Per Harald

Hackman Peter

Lahermo Päivi

University of Turku

Jokela Manu

Tampere University Hospital

Vihola Anna

Udd Bjarne

Jokela Manu

Huovinen Sanna

Publication type

Publication format

Article

Parent publication type

Journal

Article type

Original article

Audience

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A1 Journal article (refereed), original research

Publication channel information

Journal/Series

Acta neuropathologica

Parent publication name

Acta Neuropathologica

Volume

142

Issue

2

ISSN

0001-6322

​Publication forum

50309

​Publication forum level

2

Open access

Open access in the publisher’s service

Yes

Open access of publication channel

Partially open publication channel

Self-archived

Yes

Other information

Fields of science

Biomedicine; Neurosciences; Neurology and psychiatry

Keywords

[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

No

DOI

10.1007/s00401-021-02319-x

The publication is included in the Ministry of Education and Culture’s Publication data collection

Yes