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Sonia Messina

University of Messina
H指数:68
被引数:1.3万

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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
Rate of change in upper and lower motor neuron burden is associated with survival in amyotrophic lateral sclerosis

上运动神经元和下运动神经元负荷的变化率与肌萎缩侧索硬化症的生存期相关。

2025-04-040
PRE
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
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
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3

未经治疗的2型和3型脊髓性肌萎缩症患者队列中修订的Hammersmith量表中的疾病轨迹

2024-02-275
OAAI
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?

具有四个SMN2拷贝的儿童和成人脊髓性肌萎缩症患者的临床表型: 它们真的都稳定吗?

2023-09-2212
OAAI
Onasemnogene abeparvovec in spinal muscular atrophy : predictors of efficacy and safety in naive patients with spinal muscular atrophy and following switch from other therapies

脊髓性肌萎缩症中的Onasemnogene abeparvovec: 幼稚的脊髓性肌萎缩症患者和从其他疗法转换后的疗效和安全性的预测因子

2023-05-0119
OAAI
Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?

动态和非动态Duchenne肌营养不良症患者PUL 2.0域的纵向分析: 它们与功能能力的关系如何变化?

2023-04-123
OAAI
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies An Italian Nationwide Survey

意大利全国性调查显示,在疾病缓解疗法时代,脊髓性肌萎缩症的患病率

2023-03-1414
OAAI
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants

未经治疗的儿科2型和3型SMA参与者的大型队列中修订的Hammersmith量表评分的2年变化

2023-02-287
OAAI
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study

扩大具有核心和微型核心的RYR1-related先天性肌病的临床病理和遗传谱: 一项意大利人口研究

2022-04-1510
OAAI
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy

Nusinersen在2型和3型脊髓性肌萎缩症中24个月的疗效数据

2022-02-1527
OA
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired
2022-01-276
OAAI
Body mass index in type 2 spinal muscular atrophy: a longitudinal study

2型脊髓性肌萎缩症的体重指数: 一项纵向研究

2022-01-193
OAAI
Natural history study of spinal muscular atrophy with respiratory distress type 1 (SMARD1) in a cohort of European patients
2021-10-010
PRE
The unfolded protein response in amyotrophic later sclerosis: Results of a phase 2 trial
2021-10-010
OAAI
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy

Nusinersen在儿童和成人III型脊髓性肌萎缩症患者中的应用

2021-06-2434
OAAI
The unfolded protein response in amyotrophic later sclerosis: results of a phase 2 trial
BRAIN
IF11.7
2021-04-2745
OAAI