Publications en collaboration avec des chercheurs de Universitat Autònoma de Barcelona (48)

2024

  1. A mammalian-specific Alex3/Gαq protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival

    Science Signaling, Vol. 17, Núm. 822

  2. 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

  3. Immortalized human myotonic dystrophy type 1 muscle cell lines to address patient heterogeneity

    iScience, Vol. 27, Núm. 6

2023

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

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

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

    Nature communications

2022

  1. Development of Lung Function in Preterm Infants During the First Two Years of Life

    Archivos de Bronconeumologia, Vol. 58, Núm. 3, pp. 237-245

  2. Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome

    Annals of Clinical and Translational Neurology, Vol. 9, Núm. 2, pp. 122-131

  3. Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment

    Medicine (United States), Vol. 101, Núm. 48, pp. E31471

  4. Genetic diagnosis of basal ganglia disease in childhood

    Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752

  5. Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

    Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842

  6. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

2021

  1. Clinical characteristics and outcomes of thymoma-associated myasthenia gravis

    European Journal of Neurology, Vol. 28, Núm. 6, pp. 2083-2091

  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. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

  4. Long runs of homozygosity are associated with Alzheimer’s disease

    Translational Psychiatry, Vol. 11, Núm. 1

  5. Small for Gestational Age Moderate to Late Preterm Children: A Neuropsychological Follow-up

    Developmental Neuropsychology, Vol. 46, Núm. 4, pp. 277-287

2020

  1. Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (Acta Neuropathologica, (2019), 138, 2, (237-250), 10.1007/s00401-019-02026-8)

    Acta Neuropathologica

  2. Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

    Human Mutation, Vol. 41, Núm. 4, pp. 837-849

  3. Genotype–phenotype correlations in recessive titinopathies

    Genetics in Medicine, Vol. 22, Núm. 12, pp. 2029-2040

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

    Scientific Reports, Vol. 10, Núm. 1