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The Journal of Pediatrics|January 9, 2010
Cortical visual function in preterm infants in the first yearDaniela Ricci, Laura Cesarini, Francesca Gallini, et al.American Journal of Medical Genetics. Part A|November 12, 2019
Healthcare recommendations for Joubert syndromeRuxandra Bachmann-Gagescu, Jennifer C Dempsey, Sara Bulgheroni, et al.International Journal of Molecular Sciences|August 16, 2020
Vascular Remodeling in Moyamoya Angiopathy: From Peripheral Blood Mononuclear Cells to Endothelial CellsFrancesca Tinelli, Sara Nava, Francesco Arioli, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|March 14, 2020
Discovering the Italian phenotype of cerebral amyloid angiopathy (CAA): the SENECA projectAnna Bersano, Emma Scelzo, Leonardo Pantoni, et al.International Journal of Molecular Sciences|August 27, 2021
NGS in Hereditary Ataxia: When Rare Becomes FrequentDaniele Galatolo, Giovanna De Michele, Gabriella Silvestri, 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.Frontiers in Neurology|December 20, 2018
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional StudyAngelica D'Amore, Alessandra Tessa, Carlo Casali, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 4, 2019
GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary resultsAnna Bersano, Gloria Bedini, Sara Nava, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2024
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disordersClara D M van Karnebeek, Maja Tarailo-Graovac, René Leen, et al.Plos Genetics|July 23, 2011
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndromeMaria Clara Bonaglia, Roberto Giorda, Silvana Beri, et al.Pageof 17