Publications en collaboration avec des chercheurs de University of Naples Federico II (22)

2024

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

    Seminars in Arthritis and Rheumatism, Vol. 66

  2. Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study

    Brain, Vol. 147, Núm. 8, pp. 2652-2667

2023

  1. A patient-driven registry on Behçet’s disease: the AIDA for patients pilot project

    Frontiers in Medicine, Vol. 10

  2. Efficacy and Safety of Adalimumab in Pediatric Non-infectious Non-anterior Uveitis: Real-life Experience From the International AIDA Network Uveitis Registry

    Ophthalmology and Therapy, Vol. 12, Núm. 4, pp. 1957-1971

  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. Infected pancreatic necrosis: outcomes and clinical predictors of mortality. A post hoc analysis of the MANCTRA-1 international study

    Updates in Surgery, Vol. 75, Núm. 3, pp. 493-522

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. Geographic distribution and phenotype of European people with cystic fibrosis carrying A1006E mutation

    Respiratory Medicine, Vol. 192

2021

  1. 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

  2. Genetic mechanisms of critical illness in COVID-19

    Nature, Vol. 591, Núm. 7848, pp. 92-98

  3. Mapping the human genetic architecture of COVID-19

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

2020

  1. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

    Genetics in Medicine, Vol. 22, Núm. 11, pp. 1851-1862

  2. Primrose syndrome: Characterization of the phenotype in 42 patients

    Clinical Genetics, Vol. 97, Núm. 6, pp. 890-901

2019

  1. Clinical and genetic characteristics of late-onset Huntington's disease

    Parkinsonism and Related Disorders, Vol. 61, pp. 101-105

  2. Comparison of seven prognostic tools to identify low-risk pulmonary embolism in patients aged <50 years

    Scientific Reports, Vol. 9, Núm. 1

2018

  1. Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

    Journal of Huntington's Disease, Vol. 7, Núm. 3, pp. 209-222

2017

  1. Cognitive decline in Huntington's disease expansion gene carriers

    Cortex, Vol. 95, pp. 51-62

  2. Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome

    Journal of Pediatrics, Vol. 189, pp. 72-78.e3

2016

  1. The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry

    Arthritis and Rheumatology, Vol. 68, Núm. 11, pp. 2795-2805

2014

  1. Celiac disease in the Mediterranean area

    BMC Gastroenterology, Vol. 14, Núm. 1