Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

Peter Hackman, Jaakko Sarparanta, Sara Lehtinen, Anna Vihola, Anni Evilä, Per Harald Jonson, Helena Luque, Juha Kere, Mark Screen, Patrick F. Chinnery, Gabrielle Ahlberg, Lars Edstrom, Bjarne Udd

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalAnnals of Neurology
Volume73
Issue number4
Pages (from-to)500-509
Number of pages10
ISSN0364-5134
DOIs
Publication statusPublished - Apr 2013
MoE publication typeA1 Journal article-refereed

Fields of Science

  • AMYOTROPHIC-LATERAL-SCLEROSIS
  • CELL INTRACELLULAR ANTIGEN-1
  • MAMMALIAN STRESS GRANULES
  • 5'-SPLICE SITES
  • SPLICING REGULATION
  • MUSCULAR-DYSTROPHY
  • SKELETAL-MUSCLE
  • MESSENGER-RNAS
  • TNF-ALPHA
  • EXPRESSION
  • 3112 Neurosciences

Cite this

@article{4af36bf32c41456ab32cab2276d357ba,
title = "Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1",
keywords = "AMYOTROPHIC-LATERAL-SCLEROSIS, CELL INTRACELLULAR ANTIGEN-1, MAMMALIAN STRESS GRANULES, 5'-SPLICE SITES, SPLICING REGULATION, MUSCULAR-DYSTROPHY, SKELETAL-MUSCLE, MESSENGER-RNAS, TNF-ALPHA, EXPRESSION, 3112 Neurosciences",
author = "Peter Hackman and Jaakko Sarparanta and Sara Lehtinen and Anna Vihola and Anni Evil{\"a} and Jonson, {Per Harald} and Helena Luque and Juha Kere and Mark Screen and Chinnery, {Patrick F.} and Gabrielle Ahlberg and Lars Edstrom and Bjarne Udd",
year = "2013",
month = "4",
doi = "10.1002/ana.23831",
language = "English",
volume = "73",
pages = "500--509",
journal = "Annals of Neurology",
issn = "0364-5134",
publisher = "Wiley",
number = "4",

}

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. / Hackman, Peter; Sarparanta, Jaakko; Lehtinen, Sara; Vihola, Anna; Evilä, Anni; Jonson, Per Harald; Luque, Helena; Kere, Juha; Screen, Mark; Chinnery, Patrick F.; Ahlberg, Gabrielle; Edstrom, Lars; Udd, Bjarne.

In: Annals of Neurology, Vol. 73, No. 4, 04.2013, p. 500-509.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

AU - Hackman, Peter

AU - Sarparanta, Jaakko

AU - Lehtinen, Sara

AU - Vihola, Anna

AU - Evilä, Anni

AU - Jonson, Per Harald

AU - Luque, Helena

AU - Kere, Juha

AU - Screen, Mark

AU - Chinnery, Patrick F.

AU - Ahlberg, Gabrielle

AU - Edstrom, Lars

AU - Udd, Bjarne

PY - 2013/4

Y1 - 2013/4

KW - AMYOTROPHIC-LATERAL-SCLEROSIS

KW - CELL INTRACELLULAR ANTIGEN-1

KW - MAMMALIAN STRESS GRANULES

KW - 5'-SPLICE SITES

KW - SPLICING REGULATION

KW - MUSCULAR-DYSTROPHY

KW - SKELETAL-MUSCLE

KW - MESSENGER-RNAS

KW - TNF-ALPHA

KW - EXPRESSION

KW - 3112 Neurosciences

U2 - 10.1002/ana.23831

DO - 10.1002/ana.23831

M3 - Article

VL - 73

SP - 500

EP - 509

JO - Annals of Neurology

JF - Annals of Neurology

SN - 0364-5134

IS - 4

ER -