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Orphanet Journal of Rare Diseases|January 11, 2014
Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trialLuciana Chessa, Vincenzo Leuzzi, Alessandro Plebani, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|November 8, 2018
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndromeSara Nuovo, Laura Fuiano, Alessia Micalizzi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 3, 2024
Management, treatment, and clinical approach of Sydenham's chorea in children: Italian survey on expert-based experienceAlessandro Orsini, Andrea Santangelo, Giorgio Costagliola, et al.
Human Mutation|December 6, 2008
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementFrancesco Brancati, Miriam Iannicelli, Lorena Travaglini, et al.
Medicine|December 30, 2018
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysisJessica Galli, Francesco Gavazzi, Micaela De Simone, et al.
Human Mutation|April 18, 2013
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndromeGillian I Rice, Martin A M Reijns, Stephanie R Coffin, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|February 24, 2021
Being adults with cerebral palsy: results of a multicenter Italian study on quality of life and participationEmanuela Pagliano, Tiziana Casalino, Sara Mazzanti, et al.
Pediatric Neurology|August 14, 2025
Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease SeverityCostanza Varesio, Davide Politano, Laura Adang, et al.
Neurology|June 10, 2024
Nonverbal Cognitive Skills in Children With Aicardi Goutières SyndromeFrancesco Gavazzi, Ylenia Vaia, Sarah Woidill, et al.
The Journal of Experimental Medicine|March 9, 2022
DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytesAnna Maria Sole Giordano, Marco Luciani, Francesca Gatto, et al.
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