Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.-论文-万方医学网

第一作者： Arpana,Silwal

第一单位： The Dubowitz Neuromuscular Centre, Developmental Neuroscience Program, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital, London, UK.

作者： Arpana,Silwal ^[1] ; Anna,Sarkozy ^[1] ; Mariacristina,Scoto ^[1] ; Deborah,Ridout ^[2] ; Anne,Schmidt ^[3] ; Aidan,Laverty ^[3] ; Matilde,Henriques ^[3] ; Luigi,D'Argenzio ^[1] ; Marion,Main ^[1] ; Rachael,Mein ^[4] ; Adnan Y,Manzur ^[1] ; Francois,Abel ^[3] ; Fouad,Al-Ghamdi ^[5] ; Casie A,Genetti ^[5] ; Didem,Ardicli ^[6] ; Goknur,Haliloglu ^[6] ; Haluk,Topaloglu ^[6] ; Alan H,Beggs ^[5] ; Francesco,Muntoni ^[7]

作者单位： The Dubowitz Neuromuscular Centre, Developmental Neuroscience Program, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital, London, UK. ^[1] Population, Policy and Practice Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, UK.;NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, Great Ormond Street Hospital Trust, London, UK. ^[2] Respiratory Department, Sleep and Non-Invasive Ventilation, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. ^[3] Genetic Department, Molecular Genetics Laboratory Viapath, Guy's Hospital, London, UK. ^[4] Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. ^[5] Hacettepe University Children's Hospital, Department of Paediatric Neurology, Ankara, Turkey. ^[6] The Dubowitz Neuromuscular Centre, Developmental Neuroscience Program, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital, London, UK.;NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, Great Ormond Street Hospital Trust, London, UK. ^[7]

医学主题词青少年(Adolescent);成年人(Adult);儿童(Child);儿童, 学龄前(Child, Preschool);队列研究(Cohort Studies);发育障碍(Developmental Disabilities);疾病恶化(Disease Progression);胃造口术(Gastrostomy);人类(Humans);婴儿(Infant);插管法, 胃肠(Intubation, Gastrointestinal);行走困难(Mobility Limitation);肌张力过低(Muscle Hypotonia);肌蛋白质类(Muscle Proteins);肌疾病(Muscular Diseases);呼吸, 人工(Respiration, Artificial);脊柱侧凸(Scoliosis);硒蛋白质类(Selenoproteins);疾病严重程度指数(Severity of Illness Index);肺活量(Vital Capacity);青年人(Young Adult)

DOI 10.1002/acn3.51218

PMID 33037864

发布时间 2021-09-24

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Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.

Annals of clinical and translational neurology

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Annals of clinical and translational neurology

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Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials.

Annals of clinical and translational neurology

相似文献

同项目论文

Annals of clinical and translational neurology

相关期刊

检索历史清除