Publications en collaboration avec des chercheurs de Universidad del País Vasco/Euskal Herriko Unibertsitatea (197)

2024

  1. AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action

    Science advances, Vol. 10, Núm. 41, pp. eadn6525

  2. Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features

    Brain, Vol. 147, Núm. 8, pp. 2867-2883

  3. CNS involvement in myotonic dystrophy type 1: does sex play a role?

    Frontiers in Neurology , Vol. 15

  4. Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis

    Acta Neuropathologica, Vol. 148, Núm. 1

  5. Haplotype-Aware Detection of SERPINA1 Variants by Nanopore Sequencing

    Journal of Molecular Diagnostics, Vol. 26, Núm. 11, pp. 971-987

  6. Oocyte electroporation prior to in vitro fertilization is an efficient method to generate single, double, and multiple knockout porcine embryos of interest in biomedicine and animal production

    Theriogenology, Vol. 218, pp. 111-118

  7. Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review

    Journal of neuromuscular diseases, Vol. 11, Núm. 3, pp. 567-577

  8. The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy

    Muscle and Nerve, Vol. 69, Núm. 4, pp. 472-476

  9. Understanding the olfactory role in post-COVID cognitive and neuropsychiatric manifestations

    Frontiers in Psychology, Vol. 15

2023

  1. 267th ENMC International workshop: psychological interventions for improving quality of life in slowly progressive neuromuscular disorders

    Neuromuscular Disorders

  2. Admixture mapping of severe asthma exacerbations in Hispanic/Latino children and youth

    Thorax, Vol. 78, Núm. 3, pp. 233-241

  3. Alpha-1 antitrypsin deficiency and Pi*S and Pi*Z SERPINA1 variants are associated with asthma exacerbations

    Pulmonology

  4. Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

  5. Changes in Liver Lipidomic Profile in G2019S-LRRK2 Mouse Model of Parkinson’s Disease

    Cells, Vol. 12, Núm. 5

  6. Classifying asthma control using salivary and fecal bacterial microbiome in children with moderate-to-severe asthma

    Pediatric Allergy and Immunology, Vol. 34, Núm. 2

  7. Dysautonomia and small fiber neuropathy in post-COVID condition and Chronic Fatigue Syndrome

    Journal of Translational Medicine, Vol. 21, Núm. 1

  8. Epigenome-Wide Association Studies of the Fractional Exhaled Nitric Oxide and Bronchodilator Drug Response in Moderate-to-Severe Pediatric Asthma

    Biomedicines, Vol. 11, Núm. 3

  9. Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))

    Nature communications

  10. Executive functions and daily functioning in myotonic dystrophy type 1 ecological assessment with virtual reality

    Neuromuscular Disorders, Vol. 33, Núm. 12, pp. 917-922

  11. Human genetics influences microbiome composition involved in asthma exacerbations despite inhaled corticosteroid treatment

    Journal of Allergy and Clinical Immunology, Vol. 152, Núm. 3, pp. 799-806.e6