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  1. No Access

    Article

    Wolfram syndrome 1 in the Italian population: genotype–phenotype correlations

    We studied 45 patients with Wolfram syndrome 1 (WS1) to describe their clinical history and to search for possible genotype–phenotype correlations.

    Luciana Rigoli, Concetta Aloi, Alessandro Salina, Chiara Di Bella… in Pediatric Research (2020)

  2. No Access

    Article

    A mild impairment of K+ATP channel function caused by two different ABCC8 defects in an Italian newborn

    Giulia Romanisio, Alessandro Salina, Concetta Aloi… in Acta Diabetologica (2018)

  3. Article

    Open Access

    A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2

    Wolfram Syndrome type 2 (WFS2) is considered a phenotypic and genotypic variant of WFS, whose minimal criteria for diagnosis are diabetes mellitus and optic atrophy. The disease gene for WFS2 is CISD2. The clinic...

    Enza Mozzillo, Maurizio Delvecchio, Massimo Carella… in BMC Medical Genetics (2014)

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  4. No Access

    Article

    The coexistence of type 1 diabetes, MODY2 and metabolic syndrome in a young girl

    Even though autoantibodies to pancreatic islet cells are normally found in type 1 diabetes and insulin-resistance due to overweight is more reminiscent of type 2 diabetes, some studies have described β-cell an...

    Valeria Calcaterra, Miryam Martinetti, Alessandro Salina… in Acta Diabetologica (2012)