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Children (Basel, Switzerland)|May 25, 2024
Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel MutationLorenzo Cipriano, Raffaele Piscopo, Chiara Aiello, et al.
Clinical Neurology and Neurosurgery|January 5, 2023
Leukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variantsFrancesco Nicita, Chiara Aiello, Alessia Carboni, et al.
Endocrinology, Diabetes & Metabolism Case Reports|May 20, 2021
ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case seriesAngelika Mohn, Nella Polidori, Chiara Aiello, et al.
Brain & Development|June 17, 2021
Broadening the spectrum phenotype of TBCE-related neuron neurodegenerationRoberta Battini, Roberta Milone, Chiara Aiello, et al.
Brain Sciences|January 16, 2021
Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS)Francesco Nicita, Chiara Aiello, Gessica Vasco, et al.
Molecular Genetics and Metabolism|June 18, 2013
Glutathione imbalance in patients with X-linked adrenoleukodystrophySara Petrillo, Fiorella Piemonte, Anna Pastore, et al.
Pediatrics|June 12, 2013
Cobalamin C defect presenting with isolated pulmonary hypertensionFrancesca G Iodice, Luca Di Chiara, Sara Boenzi, et al.
International Journal of Cancer|July 22, 2025
Rewriting the MASLD-associated hepatocellular carcinoma script: Targeting epigenetics and metabolismChiara Aiello, Eric Felli, Teresa Musarra, et al.
European Journal of Pediatrics|December 15, 2010
Cobalamin C defect presenting as severe neonatal hyperammonemiaDiego Martinelli, Andrea Dotta, Laura Massella, et al.
Neurogenetics|November 9, 2013
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutationsTanit Arnedo, Chiara Aiello, Elena Jeworutzki, et al.
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