S
Simona Orcesi
H指数:44
被引数:9,105
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The expanding phenotypic spectrum of COL4A1- and COL4A2-related disorders: a systematic review
COL4A1和COL4A2相关疾病的扩展表型谱:一项系统综述
Pediatric Neurology
IF2.1
Improving neuroplasticity and Quality of Life in children with Cerebral Palsy: a customized intensive motor training protocol integrating the HABIT-ILE approach
改善脑瘫儿童神经可塑性与生活质量:一种整合HABIT-ILE方法的定制化高强度运动训练方案
Enhancing the feeding journey of the preterm infant in the NICU: the STAmmi VICINO pathway as a model of integrated and individualized neurodevelopmental care
增强NICU早产儿的喂养过程:STAmmi VICINO途径作为整合性个体化神经发育护理的模型
tACS-combined motor training for the rehabilitation of the upper limb in children and adolescents with cerebral palsy: A randomized, sham-controlled trial protocol
经颅交流电刺激联合运动训练对脑瘫儿童和青少年上肢康复的作用:一项随机、假刺激对照试验方案
PLOS ONE
IF2.6
Expanding the Phenotypic Spectrum of SPG4: Autism Spectrum Disorder in Early-Onset and Complex SPAST-HSP and Case Study
扩展SPG4表型谱:早期发病和复杂SPAST-HSP中的自闭症谱系障碍及病例研究
Metformin Reduces Oxidative Damage in RNASEH2-Mutant Aicardi-Goutières Cells
二甲双胍降低RNASEH2突变型Aicardi-Goutières细胞的氧化损伤
genes
IF0
Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity
Aicardi-Goutières综合征患者(RNASEH2B基因p.Ala177Thr变异纯合子)的多中心国际队列的临床特征:疾病严重程度的早期临床标志物
Pediatric Neurology
IF2.1
COL4A1 and COL4A2-Related Disorders – Clinical Features, Diagnostic Guidelines, and Management.
COL4A1和COL4A2相关疾病——临床特征、诊断指南和管理。
Genetics in Medicine
IF6.2
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803
GRIA2 p.Gly792和GRIA3 p.Gly803旁系同源获得功能变异的临床及神经发育特征
CLINICAL GENETICS
IF2.3
EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome
发病时的脑电图和MRI可预测Aicardi综合征的长期临床结局

