换一批Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
作者：
O'Grady, Gina L. [1]
;
Best, Heather A. [2]
;
Sztal, Tamar E. [3]
;
Schartner, Vanessa [4]
;
Sanjuan-Vazquez, Tvlyriam [5]
;
Donkervoort, Sandra [6]
;
Neto, Osorio Abath [7]
;
Sutton, Roger Bryan [8]
;
Ilkovski, Biljana [9]
;
Romero, Norma Beatriz [10]
;
Stojkovic, Tanya [11]
;
Dastgir, Jahannaz [12]
;
Waddell, Leigh B. [13]
;
Boland, Anne [14]
;
Hu, Ying [15]
;
Williams, Caitlin [16]
;
Ruparelia, Avnika A. [17]
;
Maisonobe, Thierry ;
Peduto, Anthony J. ;
Reddel, Stephen W. ;
Lek, Monkol ;
Tukiainen, Tam ;
Cummings, Beryl B. ;
Joshi, Himanshu ;
Nectoux, Juliette ;
Brammah, Susan ;
Deleuze, Jean-Francois ;
Ing, Viola Oorschot ;
Ramm, Georg ;
Ardicli, Didem ;
Nowak, Kristen J. ;
Talim, Beril ;
Topaloglu, Haluk ;
Laing, Nigel G. ;
North, Kathryn N. ;
MacArthur, Daniel G. ;
Friant, Sylvie ;
Clarke, Nigel F. ;
Bryson-Richardson, Robert J. ;
Bonnemann, Carsten G. ;
Laporte, Jocelyn ;
Cooper, Sandra T.
作者单位：
Monash Univ, Sch Biol Sci, Melbourne, Vic 3800, Australia
[1]
Univ Sydney, Concord Clin Sch, Dept Neurol, Sydney, NSW 2139, Australia
[2]
Texas Tech Univ, Hlth Sci Ctr, Dept Cell Physiol & Mol Biophys, Lubbock, TX 79430 USA
[3]
Hacettepe Univ, Dept Pediat Neurol, Childrens Hosp, TR-06100 Ankara, Turkey
[4]
UPMC Univ Paris 06, INSERM, UMRS974,CNRS FRE3617, Sorbonne Univ,Ctr Res Myol,GH Pitie Salpetriere
[5]
Monash Univ, Clive & Vera Ramaciotti Ctr Struct Cryoelectron M, Melbourne, Vic 3800, Australia
[6]
NINDS, Neurogenet Branch, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bethesda, MD
[7]
Univ Sydney, Dept Radiol, Westmead Hosp, Western Clin Sch, Sydney, NSW 1024, Australia
[8]
Univ Strasbourg, CNRS, UMR7156, Dept Mol & Cellular Genet, F-67081 Strasbourg, France
[9]
HUPC Hop Cochin, Serv Biochim & Genet Mol, F-75014 Paris, France
[10]
Concord Repatriat Gen Hosp, Electron Microscope Unit, Concord, NSW 2139, Australia
[11]
Univ Western Australia, Ctr Med Res, Perth, WA 6009, Australia
[12]
GHU La Pitie Salpetriere, AP HP, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, F-7503
[13]
Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
[14]
CEA, Ctr Natl Genotypage, Inst Genom, CP5721, F-91057 Evry, France
[15]
Childrens Hosp Westmead, Kids Res Inst, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia
[16]
IGBMC, F-67400 Illkirch Graffenstaden, France
[17]
发布时间
2017-04-06
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The American Journal of Human Genetics
The American Journal of Human Genetics
1086-1105页
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