1. A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X‐Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo‐Epiphyseal Dysplasia. Issue 12 (14th September 2015) Authors: Zanni, Ginevra; Kalscheuer, Vera M.; Friedrich, Andreas; Barresi, Sabina; Alfieri, Paolo; Di Capua, Matteo; Haas, Stefan A.; Piccini, Giorgia; Karl, Thomas; Klauck, Sabine M.; Bellacchio, Emanuele; Emma, Francesco; Cappa, Marco; Bertini, Enrico; Breitenbach‐Koller, Lore Journal: Human mutation Issue: Volume 36:Issue 12(2015:Dec.) Page Start: 1155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Age and sex prevalence estimate of Joubert syndrome in Italy. (25th February 2020) Authors: Nuovo, Sara; Bacigalupo, Ilaria; Ginevrino, Monia; Battini, Roberta; Bertini, Enrico; Borgatti, Renato; Casella, Antonella; Micalizzi, Alessia; Nardella, Marta; Romaniello, Romina; Serpieri, Valentina; Zanni, Ginevra; Valente, Enza Maria; Vanacore, Nicola Journal: Neurology Issue: Volume 94:Number 8(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain. Issue 1 (16th April 2022) Authors: Deisseroth, Cole A.; Lerma, Vanesa C.; Magyar, Christina L.; Pfliger, Jessica Mae; Nayak, Aarushi; Bliss, Nathan D.; LeMaire, Ashley W.; Narayanan, Vinodh; Balak, Christopher; Zanni, Ginevra; Valente, Enza Maria; Bertini, Enrico; Benke, Paul J.; Wangler, Michael F.; Chao, Hsiao‐Tuan Journal: Annals of neurology Issue: Volume 92:Issue 1(2022) Page Start: 138 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Annals of morphology. Atavisms: Phylogenetic lazarus?. Issue 11 (8th October 2013) Authors: Zanni, Ginevra; Opitz, John M. Journal: American journal of medical genetics Issue: Volume 161:Issue 11(2013:Nov.) Page Start: 2822 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. CASK related disorder: Epilepsy and developmental outcome. (March 2021) Authors: Giacomini, Thea; Nuovo, Sara; Zanni, Ginevra; Mancardi, Maria Margherita; Cusmai, Raffaella; Pepi, Chiara; Bertini, Enrico; Valente, Enza Maria; Battini, Roberta; Ferrari, Annarita; Romaniello, Romina; Zucca, Claudio; Borgatti, Renato; Uccella, Sara; Severino, Mariasavina; Striano, Pasquale; Pist... Journal: European journal of paediatric neurology Issue: Volume 31(2021) Page Start: 61 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical phenotypes of infantile onset CACNA1A-related disorder. (January 2021) Authors: Gur-Hartman, Tamar; Berkowitz, Oren; Yosovich, Keren; Roubertie, Agathe; Zanni, Ginevra; Macaya, Alfons; Heimer, Gali; Dueñas, Belén Pérez; Sival, Deborah A.; Pode-Shakked, Ben; López-Laso, Eduardo; Humbertclaude, Véronique; Riant, Florence; Bosco, Luca; Cayron, Lital Bachar; Nissenkorn, Andreea;... Journal: European journal of paediatric neurology Issue: Volume 30(2021) Page Start: 144 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance. Issue 1 (15th November 2021) Authors: Nuovo, Sara; Baglioni, Valentina; De Mori, Roberta; Tardivo, Silvia; Caputi, Caterina; Ginevrino, Monia; Micalizzi, Alessia; Masuelli, Laura; Federici, Giulia; Casella, Antonella; Lorefice, Elisa; Anello, Danila; Tolve, Manuela; Farini, Donatella; Bertini, Enrico; Zanni, Ginevra; Travaglini, Lore... Journal: Human mutation Issue: Volume 43:Issue 1(2022) Page Start: 67 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients. Issue 2 (10th June 2020) Authors: Traschütz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; d... Journal: Annals of neurology Issue: Volume 88:Issue 2(2020) Page Start: 251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. Issue 6 (12th February 2022) Authors: Van de Vondel, Liedewei; De Winter, Jonathan; Beijer, Danique; Coarelli, Giulia; Wayand, Melanie; Palvadeau, Robin; Pauly, Martje G.; Klein, Katrin; Rautenberg, Maren; Guillot‐Noël, Léna; Deconinck, Tine; Vural, Atay; Ertan, Sibel; Dogu, Okan; Uysal, Hilmi; Brankovic, Vesna; Herzog, Rebecca; Bric... Journal: Movement disorders Issue: Volume 37:Issue 6(2022) Page Start: 1175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review. (November 2019) Authors: Galosi, Serena; Barca, Emanuele; Carrozzo, Rosalba; Schirinzi, Tommaso; Quinzii, Catarina Maria; Lieto, Maria; Vasco, Gessica; Zanni, Ginevra; Di Nottia, Michela; Galatolo, Daniele; Filla, Alessandro; Bertini, Enrico; Santorelli, Filippo Maria; Leuzzi, Vincenzo; Haas, Richard; Hirano, Michio; Fri... Journal: Parkinsonism & related disorders Issue: Volume 68(2019) Page Start: 8 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗