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Children (Basel, Switzerland)|May 27, 2026
Multicenter Study on Communication, Language and Speech in Italian Children with Cerebral Palsy-Survey, Assessement Protocols and Proposal for a Classification SystemElisa Granocchio, Claudia Maggiulli, Luca Andreoli, et al.
JAMA Network Open|August 5, 2024
COVID-19 Pandemic School Disruptions and Acute Mental Health in Children and AdolescentsChiara Davico, Daniele Marcotulli, Giuseppe Abbracciavento, et al.
Nature Genetics|August 12, 2009
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesStephanie L Bielas, Jennifer L Silhavy, Francesco Brancati, et al.
Molecular Genetics and Metabolism|March 23, 2026
Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparisonGemma Marinella, Ylenia Vaia, Davide Politano, et al.
The Lancet. Neurology|August 16, 2024
Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trialStefan Zielen, Thomas Crawford, Luca Benatti, et al.
Molecular Genetics and Metabolism|February 11, 2026
A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS)Anjana Sevagamoorthy, Francesco Gavazzi, Zarrin Tashnim, et al.
Journal of Pineal Research|December 19, 2023
Fate of melatonin orally administered in preterm newborns: Antioxidant performance and basis for neuroprotectionFrancesca Garofoli, Valentina Franco, Patrizia Accorsi, et al.
Journal of Pineal Research|May 15, 2026
Early Oral Melatonin Supplementation Supports White Matter Maturation in Preterm Infants: Neuroprotective Insights of an Antioxidant MoleculeFrancesca Garofoli, Carlo Asteggiano, Maria Letizia Minniti, et al.
Disability and Rehabilitation|September 2, 2021
The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsyAndras Fogarasi, Elisa Fazzi, Ana R P Smorenburg, et al.
Journal of Clinical Medicine|May 28, 2019
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature ReviewJessica Garau, Vanessa Cavallera, Marialuisa Valente, et al.
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