1. Cardiac findings in pediatric patients with spinal muscular atrophy types 2 and 3. Issue 1 (28th October 2020) Authors: Djordjevic, Stefan A.; Milic‐Rasic, Vedrana; Brankovic, Vesna; Kosac, Ana; Vukomanovic, Goran; Topalovic, Mirko; Marinkovic, Dejan; Mladenovic, Jelena; Pavlovic, Andrija S.; Bijelic, Maja; Djukic, Milan; Markovic‐Denic, Ljiljana Journal: Muscle & nerve Issue: Volume 63:Issue 1(2021) Page Start: 75 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study. (24th November 2020) Authors: Balestrini, Simona; Mikati, Mohamad A.; Álvarez-García-Rovés, Reyes; Carboni, Michael; Hunanyan, Arsen S.; Kherallah, Bassil; McLean, Melissa; Prange, Lyndsey; De Grandis, Elisa; Gagliardi, Alessandra; Pisciotta, Livia; Stagnaro, Michela; Veneselli, Edvige; Campistol, Jaume; Fons, Carmen; Pias-Pe... Journal: Neurology Issue: Volume 95:Number 21(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome. (21st September 2020) Authors: Bar, Claire; Kuchenbuch, Mathieu; Barcia, Giulia; Schneider, Amy; Jennesson, Mélanie; Le Guyader, Gwenaël; Lesca, Gaetan; Mignot, Cyril; Montomoli, Martino; Parrini, Elena; Isnard, Hervé; Rolland, Anne; Keren, Boris; Afenjar, Alexandra; Dorison, Nathalie; Sadleir, Lynette G.; Breuillard, Delphine... Journal: Epilepsia Issue: Volume 61:issue 11(2020) Page Start: 2461 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. Novel unconventional variants expand the allelic spectrum of OPHN1 gene. Issue 5 (27th February 2021) Authors: Nuovo, Sara; Brankovic, Vesna; Caputi, Caterina; Casella, Antonella; Nigro, Vincenzo; Leuzzi, Vincenzo; Valente, Enza Maria Journal: American journal of medical genetics Issue: Volume 185:Issue 5(2021) Page Start: 1575 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study. Issue 4 (5th March 2021) Authors: Nuovo, Sara; Micalizzi, Alessia; Romaniello, Romina; Arrigoni, Filippo; Ginevrino, Monia; Casella, Antonella; Serpieri, Valentina; D'Arrigo, Stefano; Briguglio, Marilena; Salerno, Grazia Gabriella; Rossato, Sara; Sartori, Stefano; Leuzzi, Vincenzo; Battini, Roberta; Ben-Zeev, Bruria; Graziano, Cl... Journal: Journal of medical genetics Issue: Volume 59:Issue 4(2022) Page Start: 399 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. Issue 1 (January 2022) Authors: Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile; Goemans, Nathalie; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Servais, Laurent; Gerber, Marianne; Gorni, Ksenija; Khwaja, ... Journal: Lancet neurology Issue: Volume 21:Issue 1(2022) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. Issue 1 (January 2022) Authors: Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile; Goemans, Nathalie; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Servais, Laurent; Gerber, Marianne; Gorni, Ksenija; Khwaja, ... Journal: Lancet neurology Issue: Volume 21:Issue 1(2022) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. Issue 1 (January 2022) Authors: Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile; Goemans, Nathalie; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Servais, Laurent; Gerber, Marianne; Gorni, Ksenija; Khwaja, ... Journal: Lancet neurology Issue: Volume 21:Issue 1(2022) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗