1. Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. (December 2017) Authors: Marini, Carla; Romoli, Michele; Parrini, Elena; Costa, Cinzia; Mei, Davide; Mari, Francesco; Parmeggiani, Lucio; Procopio, Elena; Metitieri, Tiziana; Cellini, Elena; Virdò, Simona; De Vita, Dalila; Gentile, Mattia; Prontera, Paolo; Calabresi, Paolo; Guerrini, Renzo Journal: Neurology Issue: Volume 3:Number 6(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical profile and outcome of cardiac involvement in MELAS syndrome. (1st February 2019) Authors: Brambilla, Alice; Favilli, Silvia; Olivotto, Iacopo; Calabri, Giovanni Battista; Porcedda, Giulio; De Simone, Luciano; Procopio, Elena; Pasquini, Elisabetta; Donati, Maria Alice Journal: International journal of cardiology Issue: Volume 276(2019) Page Start: 14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. (13th May 2016) Authors: Barba, Carmen; Darra, Francesca; Cusmai, Raffaella; Procopio, Elena; Dionisi Vici, Carlo; Keldermans, Liesbeth; Vuillaumier‐Barrot, Sandrine; Lefeber, Dirk J; Guerrini, Renzo Other Names: Parrini Elena investigator.; Ashikov Angel investigator.; Bordugo Andrea investigator.; Cantalupo Gaetano investigator.; Casara Gianluca investigator.; Bernardina Bernardo Dalla investigator.; Falchi Melania investigator.; Ferri Lorenzo investigator.; Martinelli Diego investigator.; Morrone Ameli... Journal: Developmental medicine & child neurology Issue: Volume 58:Number 10(2016:Oct.) Page Start: 1085 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. (25th August 2017) Authors: Garone, Caterina; D'Souza, Aaron R; Dallabona, Cristina; Lodi, Tiziana; Rebelo-Guiomar, Pedro; Rorbach, Joanna; Donati, Maria Alice; Procopio, Elena; Montomoli, Martino; Guerrini, Renzo; Zeviani, Massimo; Calvo, Sarah E; Mootha, Vamsi K; DiMauro, Salvatore; Ferrero, Ileana; Minczuk, Michal Journal: Human molecular genetics Issue: Volume 26:Number 21(2017:Nov. 01) Page Start: 4257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission. Issue 8 (16th June 2021) Authors: Tolomeo, Deborah; Rubegni, Anna; Nesti, Claudia; Barghigiani, Melissa; Battini, Roberta; D'Amore, Francesca; Doccini, Stefano; Donati, Maria Alice; Galatolo, Daniele; Giglio, Sabrina; Guarducci, Silvia; Pantaleo, Marilena; Pasquariello, Rosa; Procopio, Elena; Pochiero, Francesca; Tessa, Alessandr... Journal: Journal of medical genetics Issue: Volume 58:Issue 8(2021) Page Start: 543 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Leigh-like neuroimaging features associated with new biallelic mutations in OPA1. (July 2017) Authors: Rubegni, Anna; Pisano, Tiziana; Bacci, Giacomo; Tessa, Alessandra; Battini, Roberta; Procopio, Elena; Giglio, Sabrina; Pasquariello, Rosa; Santorelli, Filippo Maria; Guerrini, Renzo; Nesti, Claudia Journal: European journal of paediatric neurology Issue: Volume 21:Number 4(2017:Jul.) Page Start: 671 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy. Issue 1 (4th November 2022) Authors: Tubili, Flavia; Pochiero, Francesca; Curcio, Maria Rosaria; Procopio, Elena Journal: Molecular genetics & genomic medicine Issue: Volume 11:Issue 1(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations. Issue 3 (13th March 2015) Authors: Caciotti, Anna; Tonin, Rodolfo; Rigoldi, Miriam; Ferri, Lorenzo; Catarzi, Serena; Cavicchi, Catia; Procopio, Elena; Donati, Maria Alice; Ficcadenti, Anna; Fiumara, Agata; Barone, Rita; Garavelli, Livia; Rocco, Maja Di; Filocamo, Mirella; Antuzzi, Daniela; Scarpa, Maurizio; Mooney, Sean D.; Li, Bi... Journal: Human mutation Issue: Volume 36:Issue 3(2015:Mar.) Page Start: 357 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations. Issue 3 (March 2015) Authors: Caciotti, Anna; Tonin, Rodolfo; Rigoldi, Miriam; Ferri, Lorenzo; Catarzi, Serena; Cavicchi, Catia; Procopio, Elena; Donati, Maria Alice; Ficcadenti, Anna; Fiumara, Agata; Barone, Rita; Garavelli, Livia; Rocco, Maja Di; Filocamo, Mirella; Antuzzi, Daniela; Scarpa, Maurizio; Mooney, Sean D.; Li, Bi... Journal: Human mutation Issue: Volume 36:Issue 3(2015:Mar.) Page Start: 357 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations. (20th November 2014) Authors: Rosati, Anna; Berti, Beatrice; Melani, Federico; Cellini, Elena; Procopio, Elena; Guerrini, Renzo Journal: Developmental medicine & child neurology Issue: Volume 57:Number 8(2015:Aug.) Page Start: 777 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗