Publicaciones en colaboración con investigadoras/es de University of Padua (113)

2024

  1. ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies

    Blood, Vol. 144, Núm. 11, pp. 1193-1205

  2. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis (Journal of Neurology, (2023), 270, 12, (5849-5865), 10.1007/s00415-023-11862-4)

    Journal of Neurology

  3. ER-mitochondria distance is a critical parameter for efficient mitochondrial Ca2+ uptake and oxidative metabolism

    Communications Biology, Vol. 7, Núm. 1

  4. Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry

    Seminars in Arthritis and Rheumatism, Vol. 66

  5. 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

  6. 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. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

    Journal of Neurology, Vol. 270, Núm. 12, pp. 5849-5865

  2. Clinical and genetic characteristics of Dent's disease type 1 in Europe

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 6, pp. 1497-1507

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

    Nature

  4. Fluctuation of Anti–Domain 1 and Anti–β2-Glycoprotein I Antibody Titers Over Time in Patients With Persistently Positive Antiphospholipid Antibodies

    Arthritis and Rheumatology, Vol. 75, Núm. 6, pp. 984-995

  5. Parental help-seeking behaviour for, and care of, a sick or injured child during the COVID-19 pandemic: a European online survey

    BMC Health Services Research, Vol. 23, Núm. 1

  6. Stoma-free survival after anastomotic leak following rectal cancer resection: worldwide cohort of 2470 patients

    British Journal of Surgery, Vol. 110, Núm. 12, pp. 1863-1876

  7. 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, Vol. 18

  8. The 2023 ACR/EULAR Classification Criteria for Calcium Pyrophosphate Deposition Disease

    Arthritis and Rheumatology, Vol. 75, Núm. 10, pp. 1703-1713

  9. The 2023 ACR/EULAR classification criteria for calcium pyrophosphate deposition disease

    Annals of the Rheumatic Diseases, Vol. 82, Núm. 10, pp. 1248-1257

  10. The multi-societal European consensus on the terminology, diagnosis and management of patients with synchronous colorectal cancer and liver metastases: an E-AHPBA consensus in partnership with ESSO, ESCP, ESGAR, and CIRSE

    HPB, Vol. 25, Núm. 9, pp. 985-999

  11. Treatment and long-term outcome in primary nephrogenic diabetes insipidus

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130

2022

  1. Diagnostic variation for febrile children in European emergency departments

    European Journal of Pediatrics, Vol. 181, Núm. 6, pp. 2481-2490

  2. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 93, Núm. 10, pp. 1099-1111

  3. Identifying Potential Classification Criteria for Calcium Pyrophosphate Deposition Disease: Item Generation and Item Reduction

    Arthritis Care and Research, Vol. 74, Núm. 10, pp. 1649-1658