Atypical phenotypes in titinopathies explained by second titin mutations

Anni Evilä, Anna Vihola, Jaakko Sarparanta, Olayinka Raheem, Johanna Palmio, Satu Sandell, Bruno Eymard, Isabel Illa, Ricard Rojas-Garcia, Karolina Hankiewicz, Luis Negrao, Tuija Lopponen, Pekka Nokelainen, Mikko Karppa, Sini Penttila, Mark Screen, Tiina Suominen, Isabelle Richard, Peter Hackman, Bjarne Udd

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalAnnals of Neurology
Volume75
Issue number2
Pages (from-to)230-240
Number of pages11
ISSN0364-5134
DOIs
Publication statusPublished - Feb 2014
MoE publication typeA1 Journal article-refereed

Fields of Science

  • TIBIAL MUSCULAR-DYSTROPHY
  • EARLY RESPIRATORY-FAILURE
  • C-TERMINAL TITIN
  • HEREDITARY MYOPATHY
  • DILATED CARDIOMYOPATHY
  • DISTAL MYOPATHY
  • BAND TITIN
  • TTN
  • CALPAIN
  • FAMILY
  • 3112 Neurosciences

Cite this

Evilä, Anni ; Vihola, Anna ; Sarparanta, Jaakko ; Raheem, Olayinka ; Palmio, Johanna ; Sandell, Satu ; Eymard, Bruno ; Illa, Isabel ; Rojas-Garcia, Ricard ; Hankiewicz, Karolina ; Negrao, Luis ; Lopponen, Tuija ; Nokelainen, Pekka ; Karppa, Mikko ; Penttila, Sini ; Screen, Mark ; Suominen, Tiina ; Richard, Isabelle ; Hackman, Peter ; Udd, Bjarne. / Atypical phenotypes in titinopathies explained by second titin mutations. In: Annals of Neurology. 2014 ; Vol. 75, No. 2. pp. 230-240.
@article{234351e89b2841508dd78051c0b52830,
title = "Atypical phenotypes in titinopathies explained by second titin mutations",
keywords = "TIBIAL MUSCULAR-DYSTROPHY, EARLY RESPIRATORY-FAILURE, C-TERMINAL TITIN, HEREDITARY MYOPATHY, DILATED CARDIOMYOPATHY, DISTAL MYOPATHY, BAND TITIN, TTN, CALPAIN, FAMILY, 3112 Neurosciences",
author = "Anni Evil{\"a} and Anna Vihola and Jaakko Sarparanta and Olayinka Raheem and Johanna Palmio and Satu Sandell and Bruno Eymard and Isabel Illa and Ricard Rojas-Garcia and Karolina Hankiewicz and Luis Negrao and Tuija Lopponen and Pekka Nokelainen and Mikko Karppa and Sini Penttila and Mark Screen and Tiina Suominen and Isabelle Richard and Peter Hackman and Bjarne Udd",
year = "2014",
month = "2",
doi = "10.1002/ana.24102",
language = "English",
volume = "75",
pages = "230--240",
journal = "Annals of Neurology",
issn = "0364-5134",
publisher = "Wiley",
number = "2",

}

Evilä, A, Vihola, A, Sarparanta, J, Raheem, O, Palmio, J, Sandell, S, Eymard, B, Illa, I, Rojas-Garcia, R, Hankiewicz, K, Negrao, L, Lopponen, T, Nokelainen, P, Karppa, M, Penttila, S, Screen, M, Suominen, T, Richard, I, Hackman, P & Udd, B 2014, 'Atypical phenotypes in titinopathies explained by second titin mutations', Annals of Neurology, vol. 75, no. 2, pp. 230-240. https://doi.org/10.1002/ana.24102

Atypical phenotypes in titinopathies explained by second titin mutations. / Evilä, Anni; Vihola, Anna; Sarparanta, Jaakko; Raheem, Olayinka; Palmio, Johanna; Sandell, Satu; Eymard, Bruno; Illa, Isabel; Rojas-Garcia, Ricard; Hankiewicz, Karolina; Negrao, Luis; Lopponen, Tuija; Nokelainen, Pekka; Karppa, Mikko; Penttila, Sini; Screen, Mark; Suominen, Tiina; Richard, Isabelle; Hackman, Peter; Udd, Bjarne.

In: Annals of Neurology, Vol. 75, No. 2, 02.2014, p. 230-240.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - Atypical phenotypes in titinopathies explained by second titin mutations

AU - Evilä, Anni

AU - Vihola, Anna

AU - Sarparanta, Jaakko

AU - Raheem, Olayinka

AU - Palmio, Johanna

AU - Sandell, Satu

AU - Eymard, Bruno

AU - Illa, Isabel

AU - Rojas-Garcia, Ricard

AU - Hankiewicz, Karolina

AU - Negrao, Luis

AU - Lopponen, Tuija

AU - Nokelainen, Pekka

AU - Karppa, Mikko

AU - Penttila, Sini

AU - Screen, Mark

AU - Suominen, Tiina

AU - Richard, Isabelle

AU - Hackman, Peter

AU - Udd, Bjarne

PY - 2014/2

Y1 - 2014/2

KW - TIBIAL MUSCULAR-DYSTROPHY

KW - EARLY RESPIRATORY-FAILURE

KW - C-TERMINAL TITIN

KW - HEREDITARY MYOPATHY

KW - DILATED CARDIOMYOPATHY

KW - DISTAL MYOPATHY

KW - BAND TITIN

KW - TTN

KW - CALPAIN

KW - FAMILY

KW - 3112 Neurosciences

U2 - 10.1002/ana.24102

DO - 10.1002/ana.24102

M3 - Article

VL - 75

SP - 230

EP - 240

JO - Annals of Neurology

JF - Annals of Neurology

SN - 0364-5134

IS - 2

ER -