换一批
第一作者：
A Reghan,Foley
第一单位：
1 Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Disorders, University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, WC1N 1EH, UK.
作者：
医学主题词
青少年(Adolescent);脑(Brain);延髓麻痹, 进行性(Bulbar Palsy, Progressive);肉碱(Carnitine);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);基因型(Genotype);听觉丧失, 感音神经性(Hearing Loss, Sensorineural);人类(Humans);图像处理, 计算机辅助(Image Processing, Computer-Assisted);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);微阵列分析(Microarray Analysis);运动神经元病(Motor Neuron Disease);突变(Mutation);神经病学检查(Neurologic Examination);系谱(Pedigree);RNA(RNA);受体, G-蛋白偶联(Receptors, G-Protein-Coupled);核黄素(Riboflavin);序列分析, DNA(Sequence Analysis, DNA);腓肠神经(Sural Nerve);维生素类(Vitamins);青年人(Young Adult)
DOI
10.1093/brain/awt315
PMID
24253200
发布时间
2025-05-29
基金项目
MR/K000608/1/MRC_/Medical Research Council/United Kingdom
G0802760/MRC_/Medical Research Council/United Kingdom
G108/638/MRC_/Medical Research Council/United Kingdom
R01NS072248/NS/NINDS NIH HHS/United States
R01NS075764-01A1/NS/NINDS NIH HHS/United States
096919/WT_/Wellcome Trust/United Kingdom
G1001253/MRC_/Medical Research Council/United Kingdom
U54 NS065712/NS/NINDS NIH HHS/United States
G0601943/MRC_/Medical Research Council/United Kingdom
MR/J004758/1/MRC_/Medical Research Council/United Kingdom
U54NS065712/NS/NINDS NIH HHS/United States
R01 NS072248/NS/NINDS NIH HHS/United States
R01 NS075764/NS/NINDS NIH HHS/United States
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