Publications dans lesquelles il/elle collabore avec ADOLFO JOSE LOPEZ DE MUNAIN ARREGUI (15)

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. A Ca2+-Dependent Mechanism Boosting Glycolysis and OXPHOS by Activating Aralar-Malate-Aspartate Shuttle, upon Neuronal Stimulation

    The Journal of neuroscience : the official journal of the Society for Neuroscience, Vol. 42, Núm. 19, pp. 3879-3895

  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. 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

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

  3. Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Movement Disorders

2016

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

    Expert Reviews in Molecular Medicine, Vol. 18

2014

  1. Dysregulation of calcium homeostasis in muscular dystrophies

    Expert reviews in molecular medicine, Vol. 16, pp. e16

2005

  1. A neonatal form of Steinert's myotonic dystrophy in twins after in vitro fertilization

    Fertility and Sterility, Vol. 84, Núm. 3, pp. 756.e5-756.e8

  2. Familial Parkinson's disease: Clinical and genetic analysis of four Basque families

    Annals of Neurology, Vol. 57, Núm. 3, pp. 365-372

  3. Trimetazidine induces parkinsonism, gait disorders and tremor

    Therapie

2004

  1. Mitochondrial polymporphisms in Parkinson's Disease

    Neuroscience Letters, Vol. 370, Núm. 2-3, pp. 171-174