1. An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy. (2nd April 2019) Authors: Jokela, Manu; Tasca, Giorgio; Vihola, Anna; Mercuri, Eugenio; Jonson, Per-Harald; Lehtinen, Sara; Välipakka, Salla; Pane, Marika; Donati, Maria; Johari, Mridul; Savarese, Marco; Huovinen, Sanna; Isohanni, Pirjo; Palmio, Johanna; Hartikainen, Päivi; Udd, Bjarne Journal: Neurology Issue: Volume 92:Number 14(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study. Issue 1 (December 2016) Authors: Valayannopoulos, Vassili; Baruteau, Julien; Delgado, Maria; Cano, Aline; Couce, Maria; Del Toro, Mireia; Donati, Maria; Garcia-Cazorla, Angeles; Gil-Ortega, David; Gomez-de Quero, Pedro; Guffon, Nathalie; Hofstede, Floris; Kalkan-Ucar, Sema; Coker, Mahmut; Lama-More, Rosa; Martinez-Pardo Casanova... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey. (14th March 2023) Authors: Coratti, Giorgia; Ricci, Martina; Capasso, Anna; D'amico, Adele; Sansone, Valeria; Bruno, Claudio; Messina, Sonia; Ricci, Federica; Mongini, Tiziana; Coccia, Michela; Siciliano, Gabriele; Pegoraro, Elena; Turri, Mara; Filosto, Massimiliano; Comi, Giacomo; Masson, Riccardo; Maggi, Lorenzo; Bruno, ... Journal: Neurology Issue: Volume 100:Number 11(2023) Page Start: 522 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗