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Simona Orcesi

university of pavia
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

2026-07-070
PRE
Early Oral Melatonin Supplementation Supports White Matter Maturation in Preterm Infants: Neuroprotective Insights of an Antioxidant Molecule

早期口服褪黑素补充支持早产儿白质成熟:抗氧化分子的神经保护洞见

2026-05-150
PRE
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

2025-10-130
OA
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

2025-09-270
OAAI
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

2025-09-030
OA
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

2025-08-180
PRE
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

2025-08-170
OA
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

2025-07-250
OAAI
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。

2025-07-020
OA
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

2025-05-200
OA
Video-feedback intervention for promoting social engagement in children with neurodevelopmental disabilities

视频反馈干预:促进神经发育障碍儿童的社交参与

2025-01-080
OA
Neuroradiologic, Clinical, and Genetic Characterization of Cerebellar Heterotopia: A Pediatric Multicentric Study
2024-10-150
PRE
Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome
2024-07-090
PRE
Congenital Cytomegalovirus Infection With Isolated Minor Lesions at Fetal Magnetic Resonance Imaging: Long-Term Neurological Outcome
2024-06-011
PRE
Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1
2024-05-011
OAAI
Preservation of cognitive skills in Aicardi Goutieres syndrome
2024-04-010
PRE
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease
2024-02-0711
OAAI
Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutieres Syndrome
2023-03-142
OAAI
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

2022-10-011
PRE
What is known about neuroplacentology in fetal growth restriction and in preterm infants: A narrative review of literature
2022-08-1913
OAAI