1. AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients. Issue 5 (14th May 2020) Authors: Pearson, Toni S.; Gilbert, Laura; Opladen, Thomas; Garcia‐Cazorla, Angeles; Mastrangelo, Mario; Leuzzi, Vincenzo; Tay, Stacy K. H.; Sykut‐Cegielska, Jolanta; Pons, Roser; Mercimek‐Andrews, Saadet; Kato, Mitsuhiro; Lücke, Thomas; Oppebøen, Mari; Kurian, Manju A.; Steel, Dora; Manti, Filippo; Meeks... Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 5(2020) Page Start: 1121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients. (August 2017) Authors: Carecchio, Miryam; Mencacci, Niccolò E.; Iodice, Alessandro; Pons, Roser; Panteghini, Celeste; Zorzi, Giovanna; Zibordi, Federica; Bonakis, Anastasios; Dinopoulos, Argyris; Jankovic, Joseph; Stefanis, Leonidas; Bhatia, Kailash P.; Monti, Valentina; R'Bibo, Lea; Veneziano, Liana; Garavaglia, Barba... Journal: Parkinsonism & related disorders Issue: Volume 41(2017) Page Start: 37 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Alberta Infant Motor Scale (AIMS) Performance of Greek Preterm Infants: Comparisons With Full-Term Infants of the Same Nationality and Impact of Prematurity-Related Morbidity Factors. Issue 7 (1st July 2016) Authors: Syrengelas, Dimitrios; Kalampoki, Vassiliki; Kleisiouni, Paraskevi; Manta, Vassiliki; Mellos, Stavros; Pons, Roser; Chrousos, George P.; Siahanidou, Tania Journal: Physical therapy Issue: Volume 96:Issue 7(2016) Page Start: 1102 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Analysis of a founder mutation in the TH gene in a cohort of greek patients with Parkinson's disease. Issue 11 (26th September 2016) Authors: Pons, Roser; Kekou, Kyriaki; Antonellou, Roubina; Svingou, Maria; Kanavakis, Emmanouel; Stefanis, Leonidas Journal: Movement disorders Issue: Volume 31:Issue 11(2016) Page Start: 1753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry. Issue 6 (2nd August 2021) Authors: Keller, Mareike; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Manti, Filippo; Julia Palacios, Natalia Alexandra; Friedman, Jennifer; Yıldız, Yılmaz; Koht, Jeanette Aimee; Wong, Suet‐Na; Zafeiriou, Dimitrios I.; López‐Laso, Eduardo; Pons, Roser; Kulhánek, Jan; Jeltsch, Kathrin; Serrano‐Lomelin, J... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 6(2021) Page Start: 1489 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Brain and heart magnetic resonance imaging/spectroscopy in duchenne muscular dystrophy. (26th October 2017) Authors: Mavrogeni, Sophie; Pons, Roser; Nikas, Ioannis; Papadopoulos, George; Verganelakis, Dimitrios A.; Kolovou, Genovefa; Chrousos, George P. Journal: European journal of clinical investigation Issue: Volume 47:Number 12(2017) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients. Issue 4 (28th January 2021) Authors: Kuseyri Hübschmann, Oya; Mohr, Alexander; Friedman, Jennifer; Manti, Filippo; Horvath, Gabriella; Cortès‐Saladelafont, Elisenda; Mercimek‐Andrews, Saadet; Yildiz, Yilmaz; Pons, Roser; Kulhánek, Jan; Oppebøen, Mari; Koht, Jeanette Aimee; Podzamczer‐Valls, Inés; Domingo‐Jimenez, Rosario; Ibáñez, Sa... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 4(2021) Page Start: 1070 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study. Issue 11 (28th August 2017) Authors: Darling, Alejandra; Tello, Cristina; Martí, María Josep; Garrido, Cristina; Aguilera‐Albesa, Sergio; Tomás Vila, Miguel; Gastón, Itziar; Madruga, Marcos; González Gutiérrez, Luis; Ramos Lizana, Julio; Pujol, Montserrat; Gavilán Iglesias, Tania; Tustin, Kylee; Lin, Jean Pierre; Zorzi, Giovanna; Na... Journal: Movement disorders Issue: Volume 32:Issue 11(2017) Page Start: 1620 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms. (2nd January 2023) Authors: Veltra, Danai; Tilemis, Faidon-Nikolaos; Marinakis, Nikolaos M.; Svingou, Maria; Mitrakos, Anastasios; Kosma, Konstantina; Tsoutsou, Irene; Makrythanasis, Periklis; Theodorou, Virginia; Katsalouli, Marina; Vorgia, Pelagia; Niotakis, Georgios; Vartzelis, Georgios; Dinopoulos, Argirios; Evangeliou,... Journal: Expert review of molecular diagnostics Issue: Volume 23:Number 1(2023) Page Start: 85 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗