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Lorenzo Maggi

neurological institute carlo besta
H指数:44
被引数:7,487

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Immune-mediated necrotizing myopathies: clinico-serological features and treatment outcomes of a large Italian cohort of patients

免疫介导性坏死性肌病:一大规模意大利患者队列的临床血清学特征及治疗结局

2026-08-310
PRE
X-linked Emery–Dreifuss muscular dystrophy: a multicenter, Italian, cohort study

X连锁Emery–Dreifuss肌营养不良症:一项多中心、意大利队列研究

2026-04-280
PRE
Enhanced antibody detection via live cell-based assay among RIA negative myasthenia gravis patients: toward improved diagnosis and clinical correlates

通过活细胞为基础的检测方法增强重症肌无力患者中RIA阴性抗体的检测:迈向改进诊断和临床相关性

2026-04-180
PRE
Long-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation

长期安全性结局及患者对居家静脉酶替代疗法(ERT)的偏好: Pompe病和Mucopolysaccharidosis Type I(MPS-I)两年观察的最终结果

2025-11-220
OA
Assessment of IBM-FRS total score and specific functional domains in a large cohort of inclusion body myositis patients

评估IBM-FRS总分及特定功能领域在一大样本包涵体肌炎患者中的表现

2025-11-190
PRE
Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report

COL6A1、COL6A2和COL6A3致病性变异在呈现VI型胶原蛋白相关肌病的大型意大利队列中的景观分析:一项全国性报告

2025-10-080
OAAI
Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts

致纤维化分子在CRISPR编辑的Emery–Dreifuss肌营养不良成纤维细胞中减少

2025-08-270
OA
Nucleolar FRG2 lncRNAs inhibit rRNA transcription and cytoplasmic translation, linking FSHD to dysregulation of muscle-specific protein synthesis

核仁FRG2 lncRNAs抑制rRNA转录和细胞质翻译,将FSHD与肌肉特异性蛋白质合成的失调联系起来

2025-07-221
OA
Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa

意大利晚发型庞贝病(LOPD)患者接受阿糖苷酶α治疗10年和15年后的队列分析

2025-07-110
PRE
Patients on treatment with risdiplam in Italy: challenges in the interpretation of the real-world data

意大利接受risdiplam治疗的患者的真实世界数据解读挑战

2025-03-281
PRE
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity

贝克肌营养不良的自然史:DMD基因突变预测临床严重程度

BRAIN
IF11.7
2024-11-050
PRE