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Maggie C. Walter

LMU Klinikum
H指数:53
被引数:9,086

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Decoding common and complex genotypes of facioscapulohumeral muscular dystrophy using methylation profiling and long-read sequencing

利用甲基化谱分析和长读长测序解码面肩肱型肌营养不良的常见和复杂基因型

2026-01-010
OAAI
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe

BAG3相关神经肌肉疾病在欧洲患者中的疾病谱及长期预后。Brain A J. Neurology, awaf223

BRAIN
IF11.7
2025-11-011
PRE
Reduced Muscle Force in Dystrophic DMDΔ52 Pigs Is Incompletely Restored by Systemic Transcript Reframing (DMDΔ51-52)

杜氏肌营养不良(DMDΔ52)猪的肌肉力量减弱,经系统性转录重塑(DMDΔ51-52)后未完全恢复。

2025-10-010
OAAI
State of the art: Pregnancy in spinal muscular atrophy in the treatment era

现状综述:治疗时代脊髓性肌萎缩症患者的妊娠

2025-09-120
OA
Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study

5q相关脊髓性肌萎缩症的表型家族内变异性:一项系统性多中心同胞研究

2025-09-120
PRE
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
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial
2024-12-010
PRE
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy
2024-07-031
OAAI
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy
2024-06-0112
PRE
A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A (vol 16, 433, 2021)

PXT3003治疗1A型charcot-marie-tooth的双盲,安慰剂对照,随机试验 (第16卷,433,2021)

2024-04-010
OAAI
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study
2024-04-019
OA
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features
BRAIN
IF11.7
2024-02-152
OAAI