Pubblicazioni

Natural course of IQSEC2-related encephalopathy. An Italian national structured survey

2023 - CHILDREN
Leoncini, Silvia; Boasiako, Lidia; Lopergolo, Diego; Altamura, Maria; Fazzi, Caterina; Canitano, Roberto; Grosso, Salvatore; Meloni, Ilaria; Baldassarri, Margherita; Croci, Susanna; Renieri, Alessandra; Mastrangelo, Mario; De Felice, Claudio

Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations

2022 - GENES
Lintas, Carla; Bottillo, Irene; Sacco, Roberto; Azzarà, Alessia; Cassano, Ilaria; Ciccone, Maria Pia; Grammatico, Paola; Gurrieri, Fiorella

A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study

2019 - SCIENTIFIC REPORTS
Molinaro, A.; Alessandri, M. G.; Putignano, E.; Leuzzi, V.; Cioni, G.; Baroncelli, L.; Pizzorusso, T.

Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement

2016 - EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Laino, Luigi; Bottillo, Irene; Piedimonte, Caterina; Bernardini, Laura; Torres, Barbara; Grammatico, Barbara; Bargiacchi, Simone; Mulargia, Claudia; Calvani, Mauro; Cardona, Francesco Carmelo Giovanni; Castori, Marco; Grammatico, Paola

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