1. 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) ↗
2. 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) ↗
3. Development of SaraHome: A novel, well-accepted, technology-based assessment tool for patients with ataxia. (May 2020) Authors: Summa, Susanna; Schirinzi, Tommaso; Bernava, Giuseppe Massimo; Romano, Alberto; Favetta, Martina; Valente, Enza Maria; Bertini, Enrico; Castelli, Enrico; Petrarca, Maurizio; Pioggia, Giovanni; Vasco, Gessica Journal: Computer methods and programs in biomedicine Issue: Volume 188(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders. Issue 7 (31st July 2020) Authors: Nicita, Francesco; Ginevrino, Monia; Travaglini, Lorena; D'Arrigo, Stefano; Zorzi, Giovanna; Borgatti, Renato; Terrone, Gaetano; Catteruccia, Michela; Vasco, Gessica; Brankovic, Vesna; Siliquini, Sabrina; Romano, Silvia; Veredice, Chiara; Pedemonte, Marina; Armando, Michelina; Lettori, Donatella;... Journal: Journal of medical genetics Issue: Volume 58:Issue 7(2021) Page Start: 475 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. Issue 9 (16th October 2021) Authors: Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Müller, Amelie; Grimmel, Mona; Beck-Woedel, Stefanie; Kern, Jan; Daliri, Karim; Katibeh, Pegah; Danhauser, Katharina; Leiz, Steffen; Alesi, Viola; Baertling, Fabian; Vasco... Journal: Journal of medical genetics Issue: Volume 59:Issue 9(2022) Page Start: 878 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. Issue 9 (16th October 2021) Authors: Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Müller, Amelie; Grimmel, Mona; Beck-Woedel, Stefanie; Kern, Jan; Daliri, Karim; Katibeh, Pegah; Danhauser, Katharina; Leiz, Steffen; Alesi, Viola; Baertling, Fabian; Vasco... Journal: Journal of medical genetics Issue: Volume 59:Issue 9(2022) Page Start: 878 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations. (April 2021) Authors: Stellingwerff, Menno D.; Figuccia, Sonia; Bellacchio, Emanuele; Alvarez, Karin; Castiglioni, Claudia; Topaloglu, Pinar; Stutterd, Chloe A.; Erasmus, Corrie E.; Sanchez‐Valle, Amarilis; Lebon, Sebastien; Hughes, Sarah; Schmitt-Mechelke, Thomas; Vasco, Gessica; Chow, Gabriel; Rahikkala, Elisa; Dall... Journal: Neurology Issue: Volume 7:Number 2(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol. Issue 5 (28th December 2018) Authors: Tiziano, Francesco Danilo; Lomastro, Rosa; Abiusi, Emanuela; Pasanisi, Maria Barbara; Di Pietro, Lorena; Fiori, Stefania; Baranello, Giovanni; Angelini, Corrado; Sorarù, Gianni; Gaiani, Alessandra; Mongini, Tiziana; Vercelli, Liliana; Mercuri, Eugenio; Vasco, Gessica; Pane, Marika; Vita, Giuseppe... Journal: Journal of medical genetics Issue: Volume 56:Issue 5(2019) Page Start: 293 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Longitudinal gait assessment in a stiff person syndrome. Issue 4 (December 2018) Authors: Schirinzi, Tommaso; Sancesario, Andrea; Romano, Alberto; Favetta, Martina; Gobbi, Marina; Valeriani, Massimiliano; Bertini, Enrico S.; Castelli, Enrico; Vasco, Gessica; Petrarca, Maurizio; Della Bella, Gessica Journal: International journal of rehabilitation research Issue: Volume 41:Issue 4(2018:Dec.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗