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Alberto Blázquez

instituto de investigación hospital universitario 12 de octubre
H指数:21
被引数:1,588

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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
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
Clinical and Genetic Analysis of Patients With TK2 Deficiency
2024-04-014
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
Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects
2022-04-085
OAAI
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations

TWNK突变导致的25例常染色体显性进行性眼外肌麻痹 (ad-peo)/PEO加患者的临床,组织学和遗传特征

2021-12-227
OAAI
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2
2021-07-1515
OAAI
Late-onset thymidine kinase 2 deficiency: a review of 18 cases
2019-05-0634
OAAI
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update
2017-11-1450
OAAI
Circulating Monocytes Exhibit an Endotoxin Tolerance Status after Acute Ischemic Stroke: Mitochondrial DNA as a Putative Explanation for Poststroke Infections
2017-03-0124
OAAI