1. 126 novel mutations in Italian patients with neurofibromatosis type 1. Issue 6 (7th July 2015) Authors: Bianchessi, Donatella; Morosini, Sara; Saletti, Veronica; Ibba, Maria Cristina; Natacci, Federica; Esposito, Silvia; Cesaretti, Claudia; Riva, Daria; Finocchiaro, Gaetano; Eoli, Marica Journal: Molecular genetics & genomic medicine Issue: Volume 3:Issue 6(2015:Nov.) Page Start: 513 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A PDE10A de novo mutation causes childhood‐onset chorea with diurnal fluctuations. Issue 11 (26th September 2017) Authors: Esposito, Silvia; Carecchio, Miryam; Tonduti, Davide; Saletti, Veronica; Panteghini, Celeste; Chiapparini, Luisa; Zorzi, Giovanna; Pantaleoni, Chiara; Garavaglia, Barbara; Krainc, Dimitri; Lubbe, Steven J.; Nardocci, Nardo; Mencacci, Niccolò E. Journal: Movement disorders Issue: Volume 32:Issue 11(2017) Page Start: 1646 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019) Authors: Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Congenital Brain Damage: Cognitive Development Correlates With Lesion and Electroencephalographic Features. (April 2013) Authors: Riva, Daria; Franceschetti, Silvana; Erbetta, Alessandra; Baranello, Giovanni; Esposito, Silvia; Bulgheroni, Sara Journal: Journal of child neurology Issue: Volume 28:Number 4(2013) Page Start: 446 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Low-Functioning Autism and Nonsyndromic Intellectual Disability: Magnetic Resonance Imaging (MRI) Findings. (October 2015) Authors: Erbetta, Alessandra; Bulgheroni, Sara; Contarino, Valeria Elisa; Chiapparini, Luisa; Esposito, Silvia; Annunziata, Silvia; Riva, Daria Journal: Journal of child neurology Issue: Volume 30:Number 12(2015:Oct.) Page Start: 1658 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Neuroimaging Findings in 41 Low-Functioning Children With Autism Spectrum Disorder: A Single-Center Experience. (December 2014) Authors: Erbetta, Alessandra; Bulgheroni, Sara; Contarino, Valeria; Chiapparini, Luisa; Esposito, Silvia; Vago, Chiara; Riva, Daria Journal: Journal of child neurology Issue: Volume 29:Number 12(2014:Dec.) Page Start: 1626 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Partial Trisomy 13 and Partial Monosomy 8 Mosaicism Secondary to an Unbalanced De Novo Translocation: Highlighting an Uncommon Chromosomal Abnormality. (November 2013) Authors: Baranello, Giovanni; Cesaretti, Claudia; Zambonin, Fabio; Casalone, Rosario; Granata, Paola; Esposito, Silvia; Alfei, Enrico; Natacci, Federica Journal: Journal of child neurology Issue: Volume 28:Number 11(2013) Page Start: 1463 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Teaching NeuroImages: Symmetrical abnormalities of the globi pallidi in succinic semialdehyde dehydrogenase deficiency. (20th October 2020) Authors: Esposito, Silvia; Moscatelli, Marco; Caccia, Claudio; Granocchio, Elisa; Pantaleoni, Chiara; Ardissone, Anna; Gellera, Cinzia; Farina, Laura Journal: Neurology Issue: Volume 95:Number 16(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The Key Search Subtest of the Behavioural Assessment of the Dysexecutive Syndrome in Children (BADS-C) Instrument Reveals Impaired Planning Without External Constraints in Children With Neurofibromatosis Type 1. (March 2017) Authors: Riva, Daria; Vago, Chiara; Erbetta, Alessandra; Saletti, Veronica; Esposito, Silvia; Micheli, Roberto; Bulgheroni, Sara Journal: Journal of child neurology Issue: Volume 32:Number 4(2017:Apr.) Page Start: 387 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders. Issue 6 (14th August 2018) Authors: Rizzo, Ambra; Alfei, Enrico; Zibordi, Federica; Saletti, Veronica; Zorzi, Giovanna; Freri, Elena; Estienne, Margherita; Girgenti, Vita; D'Arrigo, Stefano; Esposito, Silvia; Buldrini, Barbara; Moroni, Isabella; Milani, Donatella; Granata, Tiziana; Ardissone, Anna; Eoli, Marica; Molteni, Bruna; Big... Journal: American journal of medical genetics Issue: Volume 177:Issue 6(2018) Page Start: 557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗