Neurociencias
Hospital Regional Universitario de Málaga
Málaga, EspañaHospital Regional Universitario de Málaga-ko ikertzaileekin lankidetzan egindako argitalpenak (8)
2024
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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Neuromuscular Disorders, Vol. 34, pp. 1-8
2019
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PDGF-BB serum levels are decreased in adult onset Pompe patients
Scientific Reports, Vol. 9, Núm. 1
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Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT
Molecular Genetics and Metabolism, Vol. 128, Núm. 1-2, pp. 129-136
2018
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Quantitative muscle MRI to follow up late onset Pompe patients: A prospective study
Scientific Reports, Vol. 8, Núm. 1
2017
2013
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SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V
Clinical Genetics, Vol. 83, Núm. 3, pp. 257-262
2012
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Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia
Journal of Neurology, Vol. 259, Núm. 2, pp. 246-250