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. BIOM-10. PREVALENCE OF NF1 MISSENSE MUTATIONS AND CANDIDATE MODIFIER GENES IN SPINAL NEUROFIBROMATOSIS PATIENTS. (9th November 2020) Authors: Riva, Paola; Bianchessi, Donata; Mangano, Eleonora; Cesaretti, Claudia; Bettinaglio, Paola; Bordoni, Roberta; Tritto, Viviana; Battaglia, Cristina; Cagnoli, Giulia; Saletti, Veronica; Melone, Marina; Schettino, Carla; Natacci, Federica; Finocchiaro, Gaetano; Eoli, Marica Journal: Neuro-oncology Issue: Volume 22(2020)Supplement 2 Page Start: ii3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study. (May 2021) Authors: Raviglione, Federico; Douzgou, Sofia; Scala, Marcello; Mingarelli, Alessia; D'Arrigo, Stefano; Freri, Elena; Darra, Francesca; Giglio, Sabrina; Bonaglia, Maria C; Pantaleoni, Chiara; Mastrangelo, Massimo; Epifanio, Roberta; Elia, Maurizio; Saletti, Veronica; Morlino, Silvia; Vari, Maria Stella; D... Journal: Seizure Issue: Volume 88(2021) Page Start: 60 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Electroencephalographic (EEG) Photoparoxysmal Responses Under 5 Years of Age: Diagnostic Implications and Peculiarities. (November 2015) Authors: Binelli, Simona; Ragona, Francesca; Canafoglia, Laura; Freri, Elena; Saletti, Veronica; Casazza, Marina; Gilioli, Isabella; D'Arrigo, Stefano; Visani, Elisa; Panzica, Ferruccio; Granata, Tiziana; Riva, Daria; Franceschetti, Silvana Journal: Journal of child neurology Issue: Volume 30:Number 13(2015:Nov.) Page Start: 1824 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function. Issue 4 (14th January 2020) Authors: Rice, Gillian I.; Park, Sehoon; Gavazzi, Francesco; Adang, Laura A.; Ayuk, Loveline A.; Van Eyck, Lien; Seabra, Luis; Barrea, Christophe; Battini, Roberta; Belot, Alexandre; Berg, Stefan; Billette de Villemeur, Thierry; Bley, Annette E.; Blumkin, Lubov; Boespflug‐Tanguy, Odile; Briggs, Tracy A.; ... Journal: Human mutation Issue: Volume 41:Issue 4(2020) Page Start: 837 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. Issue 2 (7th March 2022) Authors: Mussa, Alessandro; Leoni, Chiara; Iacoviello, Matteo; Carli, Diana; Ranieri, Carlotta; Pantaleo, Antonino; Buonuomo, Paola Sabrina; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Bartuli, Andrea; Melis, Daniela; Maitz, Silvia; Loconte, Daria Carmela; Turchiano, Antonella; Piglionica, Marilidia; De... Journal: Journal of medical genetics Issue: Volume 60:Issue 2(2023) Page Start: 163 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Neurological malignancies in neurofibromatosis type 1. Issue 6 (November 2019) Authors: Eoli, Marica; Saletti, Veronica; Finocchiaro, Gaetano Journal: Current opinion in oncology Issue: Volume 31:Issue 6(2019:Nov.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Paediatric Stroke: Review of the Literature and Possible Treatment Options, including Endovascular Approach. (19th June 2011) Authors: Ciceri, Elisa F.; Cuccarini, Valeria; Chiapparini, Luisa; Saletti, Veronica; Valvassori, Luca Other Names: Naess Halvor Academic Editor. Journal: Stroke research and treatment Issue: Volume 2011(2011) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗