换一批
换一批Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis
作者：
Macarena,Cabrera-Serrano [1]
;
Laure,Caccavelli [2]
;
Marco,Savarese [3]
;
Anna,Vihola [4]
;
Manu,Jokela [5]
;
Mridul,Johari [6]
;
Thierry,Capiod [7]
;
Marine,Madrange [8]
;
Enrico,Bugiardini [9]
;
Stefen,Brady [10]
;
Rosaline,Quinlivan [11]
;
Ashirwad,Merve [12]
;
Renata,Scalco [13]
;
David,Hilton-Jones [14]
;
Henry,Houlden [15]
;
Halil Ibrahim,Aydin [16]
;
Serdar,Ceylaner [17]
;
Sarah,Drewes [18]
;
Jerry,Vockley [19]
;
Rhonda L,Taylor ;
Chiara,Folland ;
Aasta,Kelly ;
Hayley,Goullee ;
Emil,Ylikallio ;
Mari,Auranen ;
Henna,Tyynismaa ;
Bjarne,Udd ;
Alistair R R,Forrest ;
Mark R,Davis ;
Drago,Bratkovic ;
Nicholas,Manton ;
Thomas,Robertson ;
Cullen,O’Gorman ;
Pamela,McCombe ;
Nigel G,Laing ;
Liza,Phillips ;
Pascale,de Lonlay ;
Gianina,Ravenscroft
作者单位：
Intergen Genetic Diagnosis and Research Center
[1]
UPMC Children’s Hospital of Pittsburgh
[2]
University of Pittsburgh School of Medicine
[3]
Harry Perkins Institute of Medical Research
[4]
Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital
[5]
Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki
[6]
Folkh?lsan Research Center, Helsinki, Finland and Department of Medical Genetics, Medicum
[7]
Department of Diagnostic Genomics, PathWest Laboratory Medicine WA
[8]
Metabolic Clinic, Women and Children’s Hospital
[9]
SA Pathology, Women and Children’s Hospital
[10]
Anatomical Pathology, Queensland Pathology
[11]
Centre for Clinical Research, The University of Queensland Centre for Clinical Research
[12]
Inserm U1151, Institut Necker Enfants-Malades, Reference Center of Inherited Metabolic Diseases and
[13]
Neuromuscular Research Center, Department of Neurology, Tampere University and University Hospital
[14]
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology
[15]
Department of Neurology, Southmead Hospital
[16]
MRC Centre for Neuromuscular Diseases, University College Hospitals
[17]
Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of
[18]
Department of Pediatrics, Baskent University
[19]
发布时间
2023-02-11
- 浏览0
Brain
Brain
3985-3998页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
