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Behavioural Neurology|September 16, 2024
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients' Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi ConsensusCarlotta Spagnoli, Roberta Battini, Filippo Manti, et al.European Journal of Human Genetics : EJHG|May 3, 2024
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstructionIlaria Pettenuzzo, Sara Carli, Ana Sánchez-Cuesta, et al.Journal of Child Neurology|November 25, 2020
Early Implantation as a Main Predictor of Response to Vagus Nerve Stimulation in Childhood-Onset Refractory EpilepsyAngelo Russo, Ann Hyslop, Valentina Gentile, et al.Molecular Cytogenetics|August 4, 2015
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degenerationPamela Magini, Monica Poscente, Simona Ferrari, et al.BMC Medicine|April 14, 2024
Olfactory bulb anomalies in KBG syndrome mouse model and patientsKara Goodkey, Anita Wischmeijer, Laurence Perrin, et al.Epilepsia|October 9, 2013
Early onset absence epilepsy with onset in the first year of life: a multicenter cohort studyLucio Giordano, Aglaia Vignoli, Raffaella Cusmai, et al.Journal of Pediatric Hematology/Oncology|September 6, 2021
Hemiplegic-Migraine-like Attacks as First Manifestation of Diffuse Leptomeningeal Glioneuronal Tumor: A Case ReportAnna Fetta, Jacopo Pruccoli, Giacomo Biasucci, et al.Orphanet Journal of Rare Diseases|March 8, 2024
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 childrenAnna Fetta, Francesco Toni, Ilaria Pettenuzzo, 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.Epileptic Disorders : International Epilepsy Journal with Videotape|June 29, 2021
Early vagus nerve stimulator implantation as a main predictor of positive outcome in pediatric patients with epileptic encephalopathyAngelo Russo, Ann Hyslop, Valentina Gentile, et al.Pageof 12