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Elena Pegoraro

university of padova
H指数:73
被引数:1.5万

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Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders

超越远端关节挛缩症:精炼PIEZO2相关疾病的表型景观

Brain
IF11.7
2026-07-240
OAAI
Safety and Tolerability of Givinostat: Evidence From Real-World and Clinical Practice

吉维诺stat的安全性和耐受性:来自真实世界和临床实践的依据

2026-04-010
OAAI
The Effect of Long-Term Non-Invasive Ventilation on Tracheostomy-Free Survival and Hospitalizations in Types 2 and 3 Spinal Muscular Atrophy Patients

长期无创通气对类型2和3型脊髓性肌萎缩症患者气管切开自由生存及住院的影响

2025-11-190
OAAI
RYR1-Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling

RYR1相关肌病涉及更多于钙离子稳态失调:转录组分析提供的见解

2025-11-150
OAAI
Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease

α-肌糖蛋白病的肌肉转录组学研究突出了驱动疾病的炎症通路

Brain
IF11.7
2025-10-280
PRE
Novel missense variants associated with GNE myopathy

与GNE肌病相关的 novel missense variants

2025-10-250
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
Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20

杜氏肌营养不良症上肢进展:基于36个月纵向研究使用PUL 20的见解

2025-09-180
OA
High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb–Girdle Muscular Dystrophy Type R2

高密度脂蛋白相关胆固醇异常在dysferlin缺乏型肢带型肌营养不良R2型临床结局研究中的表现

2025-08-150
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
Blood biomarkers for Alzheimer's disease with the Lumipulse automated platform: Age-effect and clinical value interpretation

使用Lumipulse自动化平台的阿尔茨海默病血液生物标志物: 年龄效应和临床价值解释

2025-01-010
OAAI
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey

意大利杜氏肌营养不良症的患病率: 一项全国性调查

2024-12-160
PRE
Nerve ultrasound in CANVAS-spectrum disease: Reduced nerve size distinguishes genetically confirmed CANVAS from other axonal polyneuropathies

CANVAS频谱疾病中的神经超声: 减少的神经大小将遗传证实的CANVAS与其他轴突多神经病区分开来

2024-09-022
OA