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Neurology|March 3, 2025
Infantile TK2 Deficiency Causing Mitochondrial Encephalomyopathy With Migrating Focal SeizuresLuca Bergonzini, Sara Carli, Silvia Pelle, et al.
Neurogenetics|January 1, 2013
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotypeCarlo C Quattrocchi, Ginevra Zanni, Antonio Napolitano, et al.
Genes|September 28, 2023
Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental DisordersSusanna Rizzi, Carlotta Spagnoli, Melissa Bellini, et al.
Sleep Medicine|July 10, 2019
Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic studyVeronica Di Pisa, Federica Provini, Sara Ubertiello, et al.
Epilepsia|May 16, 2025
Optimizing pediatric status epilepticus management: The role of early midazolam infusion and adherence to clinical practice guidelinesAnna Rosati, Patrizia Bartolotta, Carla Marini, et al.
Genes|February 25, 2022
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of PatientsAlessandro Orsini, Andrea Santangelo, Francesca Bravin, et al.
International Journal of Environmental Research and Public Health|September 9, 2022
Psychopathological Impact in Patients with History of Rheumatic Fever with or without Sydenham's Chorea: A Multicenter Prospective StudyAlessandro Orsini, Thomas Foiadelli, Attilio Sica, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|November 3, 2021
Epilepsy features in ARID1B-related Coffin-Siris syndromeJacopo Proietti, Elisabetta Amadori, Pasquale Striano, et al.
Life (Basel, Switzerland)|February 25, 2022
Pediatric Headache in Primary Care and Emergency Departments: Consensus with RAND/UCLA MethodGiovanni Prezioso, Agnese Suppiej, Valentina Alberghini, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 18, 2019
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolismChiara Diquigiovanni, Christian Bergamini, Rebeca Diaz, et al.
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