Publications en collaboration avec des chercheurs de University of Tübingen (40)

2024

  1. Conformation- and activation-based BRET sensors differentially report on GPCR-G protein coupling

    Science signaling, Vol. 17, Núm. 841, pp. eadi4747

  2. Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia

    Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring, Vol. 16, Núm. 2

  3. Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results

    Alzheimer's and Dementia, Vol. 20, Núm. 5, pp. 3525-3542

  4. MetSCORE: a molecular metric to evaluate the risk of metabolic syndrome based on serum NMR metabolomics

    Cardiovascular Diabetology, Vol. 23, Núm. 1

2023

  1. Alternative forms of portal vein revascularization in liver transplant recipients with complex portal vein thrombosis

    Journal of Hepatology, Vol. 78, Núm. 4, pp. 794-804

  2. Temporal dynamics predict symptom onset and cognitive decline in familial frontotemporal dementia

    Alzheimer's and Dementia, Vol. 19, Núm. 5, pp. 1947-1962

2022

  1. Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

    Human Genetics, Vol. 141, Núm. 1, pp. 147-173

  2. Efficacy and safety of the CVnCoV SARS-CoV-2 mRNA vaccine candidate in ten countries in Europe and Latin America (HERALD): a randomised, observer-blinded, placebo-controlled, phase 2b/3 trial

    The Lancet Infectious Diseases, Vol. 22, Núm. 3, pp. 329-340

  3. Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort

    Cortex, Vol. 150, pp. 12-28

  4. Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia

    Neurobiology of Aging, Vol. 114, pp. 94-104

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Consensus recommendations from the EXPeRT/PARTNER groups for the diagnosis and therapy of sex cord stromal tumors in children and adolescents

    Pediatric Blood and Cancer, Vol. 68, Núm. S4

  3. Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (Genetics in Medicine, (2020), 22, 11, (1851-1862), 10.1038/s41436-020-0899-x)

    Genetics in Medicine

  4. Cutaneous melanoma in children and adolescents: The EXPeRT/PARTNER diagnostic and therapeutic recommendations

    Pediatric Blood and Cancer, Vol. 68, Núm. S4

  5. Differential early subcortical involvement in genetic FTD within the GENFI cohort

    NeuroImage: Clinical, Vol. 30

  6. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

    Nature Communications, Vol. 12, Núm. 1

  7. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

  8. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

    Nature Communications, Vol. 12, Núm. 1

  9. Impairment of episodic memory in genetic frontotemporal dementia: A genfi study

    Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring, Vol. 13, Núm. 1

  10. Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease

    Annals of Neurology, Vol. 90, Núm. 1, pp. 35-42