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Cristina Domínguez‐González

Hospital Universitario 12 De Octubre
H指数:27
被引数:2,517
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Quantitative Muscle MRI Fat Fraction as a Biomarker of Disease Severity in Mitochondrial Myopathies

线粒体肌病中定量肌肉MRI脂肪分数作为疾病严重程度的生物标志物

2026-09-160
OAAI
Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G

扩展COL6相关疾病的表型谱:COL6A3 c.7447A>G相关的运动神经病变样及神经肌病

2026-07-280
PRE
Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency

探索线粒体肌病的结果指标; 来自TK2缺乏症纵向研究的见解

2026-01-220
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
Recomendaciones para el diagnóstico, tratamiento y seguimiento de la enfermedad de Pompe de inicio tardío

晚期庞贝病的诊断、治疗和随访建议

2025-09-260
OAAI
The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy

整合素β1D错位在Calpain 3相关 limb-girdle 肌营养不良病理生理学中的作用

CELLS
IF5.2
2025-03-170
OA
Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naive Early-Onset Anti-HMGCR Necrotizing Myopathy
2024-09-010
OAAI
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression
BRAIN
IF11.7
2024-07-240
OAAI
Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease

扩大DRP2-Associated charcot-marie-tooth病的临床范围

2024-04-091
PRE
Clinical and Genetic Analysis of Patients With TK2 Deficiency
2024-04-014
OAAI
Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration
2024-02-092
OAAI
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
2023-05-169
OAAI
Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome
2023-03-225
OAAI