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Autoimmunity Reviews|September 4, 2012
Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?Elisa Fazzi, Marco Cattalini, Simona Orcesi, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|April 18, 2015
Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasiaVincenzo Leuzzi, Roberto Micheli, Daniela D'Agnano, et al.
Pediatric Neurology|December 11, 2020
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical FeaturesCara Piccoli, Nowa Bronner, Francesco Gavazzi, et al.
Molecular Genetics and Metabolism|April 14, 2020
Development of a neurologic severity scale for Aicardi Goutières SyndromeLaura A Adang, Francesco Gavazzi, Abbas F Jawad, et al.
Investigative Ophthalmology & Visual Science|August 29, 2007
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patientsFrancesca Simonelli, Carmela Ziviello, Francesco Testa, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 8, 2007
Neurodevelopmental evolution of West syndrome: a 2-year prospective studyFrancesco Guzzetta, Giovanni Cioni, Eugenio Mercuri, et al.
BMJ Open|January 1, 2021
Measuring the Outcomes of Maternal COVID-19-related Prenatal Exposure (MOM-COPE): study protocol for a multicentric longitudinal projectLivio Provenzi, Serena Grumi, Roberto Giorda, et al.
Epilepsia|July 3, 2004
Visual function in infants with West syndrome: correlation with EEG patternsTeresa Randò, Adina Bancale, Giovanni Baranello, et al.
Nature Genetics|May 10, 2006
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeEnza Maria Valente, Jennifer L Silhavy, Francesco Brancati, et al.
Investigative Ophthalmology & Visual Science|September 24, 2010
Molecular and clinical characterization of albinism in a large cohort of Italian patientsAnnagiusi Gargiulo, Francesco Testa, Settimio Rossi, et al.
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