Publications en collaboration avec des chercheurs de University of Rome Tor Vergata (15)

2024

  1. Impact of HLA-B51 on Uveitis and Retinal Vasculitis: Data from the AIDA International Network Registries on Ocular Inflammatory Disorders

    Ocular Immunology and Inflammation

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

    Seminars in Arthritis and Rheumatism, Vol. 66

  3. The “Woundosome” Concept and Its Impact on Procedural Outcomes in Patients With Chronic Limb-Threatening Ischemia

    Journal of Endovascular Therapy

2023

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

    Frontiers in Medicine, Vol. 10

  2. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Genome Medicine, Vol. 15, Núm. 1

2020

  1. Autoantibodies against type I IFNs in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

  2. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

  3. Luspatercept in patients with lower-risk myelodysplastic syndromes

    New England Journal of Medicine, Vol. 382, Núm. 2, pp. 140-151

2014

  1. A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation

    Journal of Human Genetics, Vol. 59, Núm. 3, pp. 153-157

2013

  1. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

    European Journal of Human Genetics, Vol. 21, Núm. 10, pp. 1074-1078

2012

  1. Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

    European Journal of Human Genetics, Vol. 20, Núm. 12, pp. 1203-1208

  2. Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency

    Neurologist, Vol. 18, Núm. 5, pp. 306-309

2010

  1. Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2)

    Journal of Molecular Diagnostics, Vol. 12, Núm. 5, pp. 601-606

2008

  1. Analysis of single nucleotide polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients

    Acta Myologica, Vol. 27, Núm. DEC., pp. 82-89

  2. The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients

    Journal of Medical Genetics, Vol. 45, Núm. 10, pp. 639-646