Neurociencias - GIC 21/019
Hospital General Universitario Gregorio Marañón
Madrid, EspañaPublicaciones en colaboración con investigadoras/es de Hospital General Universitario Gregorio Marañón (13)
2020
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Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease
Medicina Clinica, Vol. 154, Núm. 3, pp. 80-85
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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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561
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Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”
Movement Disorders
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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
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Multidisciplinary management of head and neck cancer: First expert consensus using Delphi methodology from the Spanish Society for Head and Neck Cancer (part 2)
Oral Oncology, Vol. 70, pp. 65-72
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Quality of life in home-ventilated children and their families
European Journal of Pediatrics, Vol. 176, Núm. 10, pp. 1307-1317
2016
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ALS: A bucket of genes, environment, metabolism and unknown ingredients
Progress in Neurobiology, Vol. 142, pp. 104-129
2014
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Respiratory treatments in neuromuscular disease
Anales de Pediatria, Vol. 81, Núm. 4, pp. 259.e1-259.e9
2013
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Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide
Human Mutation, Vol. 34, Núm. 1, pp. 79-82
2009
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Espirometría forzada en preescolares sanos bajo las recomendaciones de la ATS/ERS: estudio CANDELA
Anales de Pediatria, Vol. 70, Núm. 1, pp. 3-11