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Cell Death & Disease|December 10, 2025
A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular diseaseDavide Doni, Deborah Grifagni, Federica Cavion, 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.
Children (Basel, Switzerland)|May 16, 2023
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month StudyClaudia Brogna, Marika Pane, Giorgia Coratti, et al.
Epilepsia|July 17, 2025
Epilepsy expands the phenotype of L-arginine:glycine amidinotransferase deficiencyAlessandro Ferretti, Roberta Battini, Olga Gagliardo, et al.
Archives of Disease in Childhood|January 30, 2024
Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort studyBianca Buchignani, Gianpaolo Cicala, Francesca Cumbo, et al.
Journal of Clinical Medicine|August 7, 2021
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort StudyDeborah Tolomeo, Daniele Orsucci, Claudia Nesti, et al.
Neuromuscular Disorders : NMD|December 3, 2014
Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophyRoberto De Sanctis, Marika Pane, Serena Sivo, et al.
Brain Sciences|December 2, 2020
Behavioural and Emotional Changes during COVID-19 Lockdown in an Italian Paediatric Population with Neurologic and Psychiatric DisordersEugenia Conti, Giuseppina Sgandurra, Giacomo De Nicola, et al.
The Journal of Clinical Investigation|February 16, 2008
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathyJoachim Schessl, Yaqun Zou, Meagan J McGrath, 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.
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