Organización Sanitaria Integrada Bilbao-Basurto
Organización de Osakidetza
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (10)
2024
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Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model
Skeletal muscle, Vol. 14, Núm. 1, pp. 21
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Executive summary of the SEEN (Sociedad Española de Endocrinología y Nutrición [Spanish Society of Endocrinology and Nutrition])-SEGO (Sociedad Española de Ginecología y Obstetricia [Spanish Society of Gynaecology and Obstetrics]) consensus document on the management of thyroid dysfunction during pregnancy
Endocrinologia, Diabetes y Nutricion, Vol. 70, pp. 38-50
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Mortality in Acromegaly Diagnosed in Older Individuals in Spain Is Higher in Women Compared to the General Spanish Population
The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 9, pp. 2193-2202
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Neurological adverse events related to immune-checkpoint inhibitors in Spain: a retrospective cohort study
The Lancet Neurology, Vol. 22, Núm. 12, pp. 1150-1159
2022
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Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study
European Journal of Neurology, Vol. 29, Núm. 11, pp. 3337-3346
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Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy
European Journal of Neurology, Vol. 29, Núm. 12, pp. 3666-3675
2019
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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
2007
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A new criterion by which to discriminate between patients with moderate allergic rhinitis and patients with severe allergic rhinitis based on the Allergic Rhinitis and its Impact on Asthma severity items
Journal of Allergy and Clinical Immunology, Vol. 120, Núm. 2, pp. 359-365