Hereditary myopathy with early respiratory failure: occurrence in various populations

Johanna Palmio; Anni Evila; Francoise Chapon; Giorgio Tasca; Fengqing Xiang; Bjorn Bradvik; Bruno Eymard; Andoni Echaniz-Laguna; Jocelyn Laporte; Mikko Karppa; Ibrahim Mahjneh; Rosaline Quinlivan; Pascal Laforet; Maxwell Damian; Andres Berardo; Ana Lia Taratuto; Jose Antonio Bueri; Johanna Tommiska; Taneli Raivio; Matthias Tuerk; Philipp Goelitz; Frederic Chevessier; Caroline Sewry; Fiona Norwood; Carola Hedberg; Rolf Schroeder; Lars Edstrom; Anders Oldfors; Peter Hackman; Bjarne Udd

doi:10.1136/jnnp-2013-304965

Hereditary myopathy with early respiratory failure: occurrence in various populations

Johanna Palmio, Anni Evila, Francoise Chapon, Giorgio Tasca, Fengqing Xiang, Bjorn Bradvik, Bruno Eymard, Andoni Echaniz-Laguna, Jocelyn Laporte, Mikko Karppa, Ibrahim Mahjneh, Rosaline Quinlivan, Pascal Laforet, Maxwell Damian, Andres Berardo, Ana Lia Taratuto, Jose Antonio Bueri, Johanna Tommiska, Taneli Raivio, Matthias TuerkPhilipp Goelitz, Frederic Chevessier, Caroline Sewry, Fiona Norwood, Carola Hedberg, Rolf Schroeder, Lars Edstrom, Anders Oldfors, Peter Hackman, Bjarne Udd

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Tidskrift	Journal of Neurology, Neurosurgery and Psychiatry
Volym	85
Nummer	3
Sidor (från-till)	345-353
Antal sidor	9
ISSN	0022-3050
DOI	https://doi.org/10.1136/jnnp-2013-304965
Status	Publicerad - mars 2014
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3124 Neurologi och psykiatri
3112 Neurovetenskaper

Åtkomst av dokument

10.1136/jnnp-2013-304965

Citera det här

Palmio, J., Evila, A., Chapon, F., Tasca, G., Xiang, F., Bradvik, B., Eymard, B., Echaniz-Laguna, A., Laporte, J., Karppa, M., Mahjneh, I., Quinlivan, R., Laforet, P., Damian, M., Berardo, A., Taratuto, A. L., Bueri, J. A., Tommiska, J., Raivio, T., ... Udd, B. (2014). Hereditary myopathy with early respiratory failure: occurrence in various populations. Journal of Neurology, Neurosurgery and Psychiatry, 85(3), 345-353. https://doi.org/10.1136/jnnp-2013-304965

@article{adab3dc000a14796bcdaffffd8b7d9d8,

title = "Hereditary myopathy with early respiratory failure: occurrence in various populations",

keywords = "EPIDEMIOLOGY, GENETICS, MYOPATHY, AUTOSOMAL-DOMINANT MYOPATHY, DISTAL MYOPATHY, DILATED CARDIOMYOPATHY, MUSCLE INVOLVEMENT, PROTEIN-TURNOVER, KINASE DOMAIN, TITIN, MUTATION, WEAKNESS, BODIES, 3124 Neurology and psychiatry, 3112 Neurosciences",

author = "Johanna Palmio and Anni Evila and Francoise Chapon and Giorgio Tasca and Fengqing Xiang and Bjorn Bradvik and Bruno Eymard and Andoni Echaniz-Laguna and Jocelyn Laporte and Mikko Karppa and Ibrahim Mahjneh and Rosaline Quinlivan and Pascal Laforet and Maxwell Damian and Andres Berardo and Taratuto, {Ana Lia} and Bueri, {Jose Antonio} and Johanna Tommiska and Taneli Raivio and Matthias Tuerk and Philipp Goelitz and Frederic Chevessier and Caroline Sewry and Fiona Norwood and Carola Hedberg and Rolf Schroeder and Lars Edstrom and Anders Oldfors and Peter Hackman and Bjarne Udd",

year = "2014",

month = mar,

doi = "10.1136/jnnp-2013-304965",

language = "English",

volume = "85",

pages = "345--353",

journal = "Journal of Neurology, Neurosurgery and Psychiatry",

issn = "0022-3050",

publisher = "BMJ Publishing Group Ltd",

number = "3",

}

Palmio, J, Evila, A, Chapon, F, Tasca, G, Xiang, F, Bradvik, B, Eymard, B, Echaniz-Laguna, A, Laporte, J, Karppa, M, Mahjneh, I, Quinlivan, R, Laforet, P, Damian, M, Berardo, A, Taratuto, AL, Bueri, JA, Tommiska, J, Raivio, T, Tuerk, M, Goelitz, P, Chevessier, F, Sewry, C, Norwood, F, Hedberg, C, Schroeder, R, Edstrom, L, Oldfors, A, Hackman, P & Udd, B 2014, 'Hereditary myopathy with early respiratory failure: occurrence in various populations', Journal of Neurology, Neurosurgery and Psychiatry, vol. 85, nr. 3, s. 345-353. https://doi.org/10.1136/jnnp-2013-304965

TY - JOUR

T1 - Hereditary myopathy with early respiratory failure: occurrence in various populations

AU - Palmio, Johanna

AU - Evila, Anni

AU - Chapon, Francoise

AU - Tasca, Giorgio

AU - Xiang, Fengqing

AU - Bradvik, Bjorn

AU - Eymard, Bruno

AU - Echaniz-Laguna, Andoni

AU - Laporte, Jocelyn

AU - Karppa, Mikko

AU - Mahjneh, Ibrahim

AU - Quinlivan, Rosaline

AU - Laforet, Pascal

AU - Damian, Maxwell

AU - Berardo, Andres

AU - Taratuto, Ana Lia

AU - Bueri, Jose Antonio

AU - Tommiska, Johanna

AU - Raivio, Taneli

AU - Tuerk, Matthias

AU - Goelitz, Philipp

AU - Chevessier, Frederic

AU - Sewry, Caroline

AU - Norwood, Fiona

AU - Hedberg, Carola

AU - Schroeder, Rolf

AU - Edstrom, Lars

AU - Oldfors, Anders

AU - Hackman, Peter

AU - Udd, Bjarne

PY - 2014/3

Y1 - 2014/3

KW - EPIDEMIOLOGY

KW - GENETICS

KW - MYOPATHY

KW - AUTOSOMAL-DOMINANT MYOPATHY

KW - DISTAL MYOPATHY

KW - DILATED CARDIOMYOPATHY

KW - MUSCLE INVOLVEMENT

KW - PROTEIN-TURNOVER

KW - KINASE DOMAIN

KW - TITIN

KW - MUTATION

KW - WEAKNESS

KW - BODIES

KW - 3124 Neurology and psychiatry

KW - 3112 Neurosciences

U2 - 10.1136/jnnp-2013-304965

DO - 10.1136/jnnp-2013-304965

M3 - Article

VL - 85

SP - 345

EP - 353

JO - Journal of Neurology, Neurosurgery and Psychiatry

JF - Journal of Neurology, Neurosurgery and Psychiatry

SN - 0022-3050

IS - 3

ER -