Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

Anni Evilä; Peter Rainer; Michaela Auer-Grumbach; Jean Pouget; Emmanuelle Salort-Campana; Juan Vilchez; Nuria Muelas; Olive Montse; Peter Hackman; Bjarne Udd; Johanna Palmio; Anna Vihola; Marco Savarese; Tasca Giorgio; Sini Penttilä; Sara Lehtinen; Per Harald Jonson; Jan De Bleecker

doi:10.1007/s12035-016-0242-3

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

Anni Evilä, Peter Rainer, Michaela Auer-Grumbach, Jean Pouget, Emmanuelle Salort-Campana, Juan Vilchez, Nuria Muelas, Olive Montse, Peter Hackman, Bjarne Udd, Johanna Palmio, Anna Vihola, Marco Savarese, Tasca Giorgio, Sini Penttilä, Sara Lehtinen, Per Harald Jonson, Jan De Bleecker

Research output: Contribution to journal › Article › Scientific › peer-review

39 Citations (Scopus)

Original language	English
Pages (from-to)	7212-7223
Journal	MOLECULAR NEUROBIOLOGY
Volume	54
Issue number	9
Early online date	29 Oct 2016
DOIs	https://doi.org/10.1007/s12035-016-0242-3
Publication status	Published - 2017
Publication type	A1 Journal article-refereed

Keywords

TTN
distal myopathy
titin
titinopathy

Publication forum classification

Publication forum level 1

Access to Document

10.1007/s12035-016-0242-3

Cite this

Evilä, A., Rainer, P., Auer-Grumbach, M., Pouget, J., Salort-Campana, E., Vilchez, J., Muelas, N., Montse, O., Hackman, P., Udd, B., Palmio, J., Vihola, A., Savarese, M., Giorgio, T., Penttilä, S., Lehtinen, S., Jonson, P. H., & De Bleecker, J. (2017). Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy. MOLECULAR NEUROBIOLOGY, 54(9), 7212-7223. https://doi.org/10.1007/s12035-016-0242-3

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title = "Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy",

keywords = "TTN, distal myopathy, titin, titinopathy, TTN, distal myopathy, titin, titinopathy",

author = "Anni Evil{\"a} and Peter Rainer and Michaela Auer-Grumbach and Jean Pouget and Emmanuelle Salort-Campana and Juan Vilchez and Nuria Muelas and Olive Montse and Peter Hackman and Bjarne Udd and Johanna Palmio and Anna Vihola and Marco Savarese and Tasca Giorgio and Sini Penttil{\"a} and Sara Lehtinen and Jonson, {Per Harald} and {De Bleecker}, Jan",

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doi = "10.1007/s12035-016-0242-3",

language = "English",

volume = "54",

pages = "7212--7223",

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Evilä, A, Rainer, P, Auer-Grumbach, M, Pouget, J, Salort-Campana, E, Vilchez, J, Muelas, N, Montse, O, Hackman, P, Udd, B, Palmio, J, Vihola, A, Savarese, M, Giorgio, T, Penttilä, S, Lehtinen, S, Jonson, PH & De Bleecker, J 2017, 'Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy', MOLECULAR NEUROBIOLOGY, vol. 54, no. 9, pp. 7212-7223. https://doi.org/10.1007/s12035-016-0242-3

TY - JOUR

T1 - Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

AU - Evilä, Anni

AU - Rainer, Peter

AU - Auer-Grumbach, Michaela

AU - Pouget, Jean

AU - Salort-Campana, Emmanuelle

AU - Vilchez, Juan

AU - Muelas, Nuria

AU - Montse, Olive

AU - Hackman, Peter

AU - Udd, Bjarne

AU - Palmio, Johanna

AU - Vihola, Anna

AU - Savarese, Marco

AU - Giorgio, Tasca

AU - Penttilä, Sini

AU - Lehtinen, Sara

AU - Jonson, Per Harald

AU - De Bleecker, Jan

PY - 2017

Y1 - 2017

KW - TTN

KW - distal myopathy

KW - titin

KW - titinopathy

KW - TTN

KW - distal myopathy

KW - titin

KW - titinopathy

U2 - 10.1007/s12035-016-0242-3

DO - 10.1007/s12035-016-0242-3

M3 - Article

SN - 0893-7648

VL - 54

SP - 7212

EP - 7223

JO - MOLECULAR NEUROBIOLOGY

JF - MOLECULAR NEUROBIOLOGY

IS - 9

ER -