GERMAN
MORIS DE LA TASSA
Profesor Asociado en CC. Salud - LOSU
Hospital Universitario de Donostia
San Sebastián, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario de Donostia (15)
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
2022
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Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome
Annals of Clinical and Translational Neurology, Vol. 9, Núm. 2, pp. 122-131
2020
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Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease
Neurologia, Vol. 35, Núm. 3, pp. 185-206
2019
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Late-onset thymidine kinase 2 deficiency: A review of 18 cases
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
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Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
Journal of Neurology, Neurosurgery and Psychiatry, Vol. 90, Núm. 5, pp. 576-585
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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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Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy
Muscle and Nerve, Vol. 57, Núm. 3, pp. 380-387
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Quantitative muscle MRI to follow up late onset Pompe patients: A prospective study
Scientific Reports, Vol. 8, Núm. 1
2016
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Muscle MRI findings in childhood/adult onset pompe disease correlate with muscle function
PLoS ONE, Vol. 11, Núm. 10
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