Publicaciones en colaboración con investigadoras/es de Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (16)

2023

  1. ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    Genome medicine, Vol. 15, Núm. 1, pp. 68

  2. Loss of the matrix metalloproteinase-10 causes premature features of aging in satellite cells

    Frontiers in Cell and Developmental Biology, Vol. 11

2022

  1. Contractile force assessment methods for in vitro skeletal muscle tissues

    eLife, Vol. 11

  2. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology, Vol. 98, Núm. 9, pp. E912-E923

  3. Targeting the Ubiquitin-Proteasome System in Limb-Girdle Muscular Dystrophy With CAPN3 Mutations

    Frontiers in Cell and Developmental Biology, Vol. 10

2021

  1. 2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA

    Nature Communications, Vol. 12, Núm. 1

  2. Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

  3. Discovery of a novel family of FKBP12 “reshapers” and their use as calcium modulators in skeletal muscle under nitro-oxidative stress

    European Journal of Medicinal Chemistry, Vol. 213

2020

  1. A genotyping method combining primer competition PCR with HRM analysis to identify point mutations in Duchenne animal models

    Scientific Reports, Vol. 10, Núm. 1

  2. Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

    Scientific Reports, Vol. 10, Núm. 1

  3. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

    American Journal of Human Genetics, Vol. 106, Núm. 2, pp. 272-279

2019

  1. Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations

    International Journal of Molecular Sciences, Vol. 20, Núm. 18

  2. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

    Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561

2017

  1. Insights into the mechanisms of copper dyshomeostasis in amyotrophic lateral sclerosis

    Expert Reviews in Molecular Medicine, Vol. 19

2016

  1. Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle

    Expert Reviews in Molecular Medicine, Vol. 18

2013

  1. Junctophilins and μ-calpain: Partners in excitation-contraction uncoupling

    Journal of Physiology