Titin mutation segregates with hereditary myopathy with early respiratory failure

Gerald Pfeffer; Hannah R. Elliott; Helen Griffin; Rita Barresi; James Miller; Julie Marsh; Anni Evilä; Anna Vihola; Peter Hackman; Volker Straub; David J. Dick; Rita Horvath; Mauro Santibanez-Koref; Bjarne Udd; Patrick F. Chinnery

doi:10.1093/brain/aws102

Titin mutation segregates with hereditary myopathy with early respiratory failure

Gerald Pfeffer, Hannah R. Elliott, Helen Griffin, Rita Barresi, James Miller, Julie Marsh, Anni Evilä, Anna Vihola, Peter Hackman, Volker Straub, David J. Dick, Rita Horvath, Mauro Santibanez-Koref, Bjarne Udd, Patrick F. Chinnery

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Lehti	Brain : a journal of neurology
Vuosikerta	135
Sivut	1695-1713
Sivumäärä	19
ISSN	0006-8950
DOI - pysyväislinkit	https://doi.org/10.1093/brain/aws102
Tila	Julkaistu - 2012
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

3124 Neurologia ja psykiatria

Pääsy asiakirjaan

10.1093/brain/aws102

Siteeraa tätä

Pfeffer, G., Elliott, H. R., Griffin, H., Barresi, R., Miller, J., Marsh, J., Evilä, A., Vihola, A., Hackman, P., Straub, V., Dick, D. J., Horvath, R., Santibanez-Koref, M., Udd, B., & Chinnery, P. F. (2012). Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain : a journal of neurology, 135, 1695-1713. https://doi.org/10.1093/brain/aws102

@article{163c3698320e4e30af4c96ff25a9f5e2,

title = "Titin mutation segregates with hereditary myopathy with early respiratory failure",

keywords = "hereditary myopathy with early respiratory failure, cytoplasmic body, titin, exome sequencing, distal myopathy, CYTOPLASMIC BODY MYOPATHY, AUTOSOMAL-DOMINANT MYOPATHY, TIBIAL MUSCULAR-DYSTROPHY, C-TERMINAL TITIN, DILATED CARDIOMYOPATHY, DISTAL MYOPATHY, KINASE DOMAIN, GENE, SEQUENCE, INVOLVEMENT, 3124 Neurology and psychiatry",

author = "Gerald Pfeffer and Elliott, {Hannah R.} and Helen Griffin and Rita Barresi and James Miller and Julie Marsh and Anni Evil{\"a} and Anna Vihola and Peter Hackman and Volker Straub and Dick, {David J.} and Rita Horvath and Mauro Santibanez-Koref and Bjarne Udd and Chinnery, {Patrick F.}",

year = "2012",

doi = "10.1093/brain/aws102",

language = "English",

volume = "135",

pages = "1695--1713",

journal = "Brain : a journal of neurology",

issn = "0006-8950",

publisher = "Oxford University Press",

}

Pfeffer, G, Elliott, HR, Griffin, H, Barresi, R, Miller, J, Marsh, J, Evilä, A, Vihola, A , Hackman, P, Straub, V, Dick, DJ, Horvath, R, Santibanez-Koref, M, Udd, B & Chinnery, PF 2012, 'Titin mutation segregates with hereditary myopathy with early respiratory failure', Brain : a journal of neurology, Vuosikerta 135, Sivut 1695-1713. https://doi.org/10.1093/brain/aws102

TY - JOUR

T1 - Titin mutation segregates with hereditary myopathy with early respiratory failure

AU - Pfeffer, Gerald

AU - Elliott, Hannah R.

AU - Griffin, Helen

AU - Barresi, Rita

AU - Miller, James

AU - Marsh, Julie

AU - Evilä, Anni

AU - Vihola, Anna

AU - Hackman, Peter

AU - Straub, Volker

AU - Dick, David J.

AU - Horvath, Rita

AU - Santibanez-Koref, Mauro

AU - Udd, Bjarne

AU - Chinnery, Patrick F.

PY - 2012

Y1 - 2012

KW - hereditary myopathy with early respiratory failure

KW - cytoplasmic body

KW - titin

KW - exome sequencing

KW - distal myopathy

KW - CYTOPLASMIC BODY MYOPATHY

KW - AUTOSOMAL-DOMINANT MYOPATHY

KW - TIBIAL MUSCULAR-DYSTROPHY

KW - C-TERMINAL TITIN

KW - DILATED CARDIOMYOPATHY

KW - DISTAL MYOPATHY

KW - KINASE DOMAIN

KW - GENE

KW - SEQUENCE

KW - INVOLVEMENT

KW - 3124 Neurology and psychiatry

U2 - 10.1093/brain/aws102

DO - 10.1093/brain/aws102

M3 - Article

SN - 0006-8950

VL - 135

SP - 1695

EP - 1713

JO - Brain : a journal of neurology

JF - Brain : a journal of neurology

ER -