Publikationen in Zusammenarbeit mit Forschern von University of Pavia (29)

2024

  1. Diagnostic accuracy of research criteria for prodromal frontotemporal dementia

    Alzheimer's Research and Therapy, Vol. 16, Núm. 1

  2. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    Brain : a journal of neurology, Vol. 147, Núm. 5, pp. 1887-1898

  3. Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum

    Movement Disorders, Vol. 39, Núm. 1, pp. 209-214

2023

  1. Ceramide present in cholangiocarcinoma-derived extracellular vesicle induces a pro-inflammatory state in monocytes

    Scientific Reports, Vol. 13, Núm. 1

  2. Correction: Surgeons’ perspectives on artificial intelligence to support clinical decision-making in trauma and emergency contexts: results from an international survey (World Journal of Emergency Surgery, (2023), 18, 1, (1), 10.1186/s13017-022-00467-3)

    World Journal of Emergency Surgery

  3. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

    Movement Disorders, Vol. 38, Núm. 2, pp. 286-303

  4. Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)

    Nature

  5. Frequency of GAA- FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia

    Neurology: Genetics, Vol. 9, Núm. 5

  6. Prolactin and morning cortisol concentrations in antipsychotic naïve first episode psychosis: A systematic review and meta-analysis

    Psychoneuroendocrinology, Vol. 150

2022

  1. Diversity and ethics in trauma and acute care surgery teams: results from an international survey

    World Journal of Emergency Surgery, Vol. 17, Núm. 1

  2. Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study

    Journal of Medical Genetics, Vol. 59, Núm. 4, pp. 399-409

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

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

  4. The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 119, Núm. 21

  5. Validation of the OAKS prognostic model for acute kidney injury after gastrointestinal surgery

    BJS Open, Vol. 6, Núm. 1

2021

  1. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

    Science immunology, Vol. 6, Núm. 62

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

  3. Mapping the human genetic architecture of COVID-19

    Nature, Vol. 600, Núm. 7889, pp. 472-477

  4. Team dynamics in emergency surgery teams: results from a first international survey

    World Journal of Emergency Surgery, Vol. 16, Núm. 1

2020

  1. Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels

    Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1

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

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