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Pablo Serrano-Lorenzo

Hospital Universitario 12 De Octubre
H指数:11
被引数:408

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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
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy
2022-04-108
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
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update
2017-11-1450
OAAI