Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (48)

2024

  1. Access to melanoma drugs in Spain: a cross-sectional survey

    Clinical and Translational Oncology, Vol. 26, Núm. 10, pp. 2572-2583

  2. Access to systemic treatment of non-melanoma skin cancer in Spain: a survey analysis

    Clinical and Translational Oncology

  3. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

  4. Melanoma Registry of the Spanish Academy of Dermatology and Venereology (REGESMEL): Description and Data in its First Year of Operation

    Actas Dermo-Sifiliograficas, Vol. 115, Núm. 7, pp. 663-669

  5. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Hyperuricaemia Does Not Interfere with Aortopathy in a Murine Model of Marfan Syndrome

    International Journal of Molecular Sciences, Vol. 24, Núm. 14

  3. 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

  4. Multi-Omics Approach Reveals Prebiotic and Potential Antioxidant Effects of Essential Oils from the Mediterranean Diet on Cardiometabolic Disorder Using Humanized Gnotobiotic Mice

    Antioxidants, Vol. 12, Núm. 8

  5. Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain

    Amyloid, Vol. 30, Núm. 2, pp. 199-207

2022

  1. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

    Movement Disorders, Vol. 37, Núm. 6, pp. 1175-1186

  2. Differential molecular response in mice and human thymocytes exposed to a combined-dose radiation regime

    Scientific Reports, Vol. 12, Núm. 1

  3. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2021

  1. A Comparative Study of Sex Distribution, Autoimmunity, Blood, and Inflammatory Parameters in Chronic Spontaneous Urticaria with Angioedema and Chronic Histaminergic Angioedema

    Journal of Allergy and Clinical Immunology: In Practice, Vol. 9, Núm. 6, pp. 2284-2292

  2. Mitochondrial DNA from osteoarthritic patients drives functional impairment of mitochondrial activity: a study on transmitochondrial cybrids

    Cytotherapy, Vol. 23, Núm. 5, pp. 399-410

  3. Pregnancy-associated plasma protein (PAPP)-A2 in physiology and disease

    Cells, Vol. 10, Núm. 12

  4. Sentinel lymph node biopsy vs. Observation in thin melanoma: A multicenter propensity score matching study

    Journal of Clinical Medicine, Vol. 10, Núm. 24

2020

  1. Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36

    Neuron, Vol. 107, Núm. 2, pp. 292-305.e6

  2. Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

    Cell Reports, Vol. 31, Núm. 5

  3. Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

    Annals of Clinical and Translational Neurology, Vol. 7, Núm. 8, pp. 1436-1442