1. Cortical malformations and COL4A1 mutation: Three new cases. (May 2019) Authors: Accorsi, P.; Battaglia, D.; Cereda, C.; Martelli, P.; Mine, M.; Pinelli, L.; Tartaglione, T.; Ghi, T.; Parrini, E.; Zuffardi, O.; Vitale, G.; Pichiecchio, A.; Ormitti, F.; Tonduti, D.; Asaro, A.; Farina, L.; Piccolo, B.; Percesepe, A.; Bastianello, S.; Orcesi, S. Journal: European journal of paediatric neurology Issue: Volume 23:Number 3(2019:May) Page Start: 410 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6‐associated neurodegeneration. (April 2016) Authors: Kraoua, I.; Romani, M.; Tonduti, D.; BenRhouma, H.; Zorzi, G.; Zibordi, F.; Ardissone, A.; Gouider‐Khouja, N.; Ben Youssef‐Turki, I.; Nardocci, N.; Valente, E. M. Journal: European journal of neurology Issue: Volume 23:Number 4(2016:Apr.) Page Start: e24 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Whole exome sequencing in patients with inherited white matter disorders. (June 2017) Authors: Dorboz, I.; Renaldo, F.; Boussaid, K.; Samaan, S.; Tonduti, D.; Eymard-Pierre, E.; Elmaleh, M.; Rodriguez, D.; Boespflug-Tanguy, O. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗