1. Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies. (10th March 2020) Authors: Verdú-Díaz, José; Alonso-Pérez, Jorge; Nuñez-Peralta, Claudia; Tasca, Giorgio; Vissing, John; Straub, Volker; Fernández-Torrón, Roberto; Llauger, Jaume; Illa, Isabel; Díaz-Manera, Jordi Journal: Neurology Issue: Volume 94:Number 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2. Issue 5 (1st February 2016) Authors: Calandra, Patrizia; Cascino, Isabella; Lemmers, Richard J L F; Galluzzi, Giuliana; Teveroni, Emanuela; Monforte, Mauro; Tasca, Giorgio; Ricci, Enzo; Moretti, Fabiola; van der Maarel, Silvère M; Deidda, Giancarlo Journal: Journal of medical genetics Issue: Volume 53:Issue 5(2016) Page Start: 348 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1. Issue 12 (17th October 2014) Authors: Böhm, Johann; Chevessier, Frédéric; Koch, Catherine; Peche, G Arielle; Mora, Marina; Morandi, Lucia; Pasanisi, Barbara; Moroni, Isabella; Tasca, Giorgio; Fattori, Fabiana; Ricci, Enzo; Pénisson-Besnier, Isabelle; Nadaj-Pakleza, Aleksandra; Fardeau, Michel; Joshi, Pushpa Raj; Deschauer, Marcus; Ro... Journal: Journal of medical genetics Issue: Volume 51:Issue 12(2014) Page Start: 824 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy. (1st October 2019) Authors: van Tol, Walinka; van Scherpenzeel, Monique; Alsady, Mohammad; Riemersma, Moniek; Hermans, Esther; Kragt, Else; Tasca, Giorgio; Kamsteeg, Erik-Jan; Pennings, Maartje; van Beusekom, Ellen; Vermeulen, Jeroen R; van Bokhoven, Hans; Voermans, Nicol C; Willemsen, Michèl A; Ashikov, Angel; Lefeber, Dirk J Journal: Clinical chemistry Issue: Volume 65:Number 10(2019) Page Start: 1295 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders. (14th September 2022) Authors: van den Bersselaar, Luuk R.; Heytens, Luc; Silva, Helga C. A.; Reimann, Jens; Tasca, Giorgio; Díaz‐Cambronero, Óscar; Løkken, Nicoline; Hellblom, Anna; Hopkins, Philip M.; Rueffert, Henrik; Bastian, Börge; Vilchez, Juan Jesus; Gillies, Robyn; Johannsen, Stephan; Veyckemans, Francis; Muenster, Tin... Journal: European journal of neurology Issue: Volume 29:Number 12(2022) Page Start: 3486 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Eyelid closing and opening disorders in patients with unilateral brain lesions: A case report with video neuroimage and a systematic review of the literature. (May 2021) Authors: Nicoletti, Tommaso; Quaranta, Davide; Della Marca, Giacomo; Tasca, Giorgio; Gainotti, Guido Journal: Journal of clinical neuroscience Issue: Volume 87(2021) Page Start: 69 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study. Issue 10 (27th July 2022) Authors: Schiava, Marianela; Ikenaga, Chiseko; Villar-Quiles, Rocío Nur; Caballero-Ávila, Marta; Topf, Ana; Nishino, Ichizo; Kimonis, Virginia; Udd, Bjarne; Schoser, Benedikt; Zanoteli, Edmar; Souza, Paulo Victor Sgobbi; Tasca, Giorgio; Lloyd, Thomas; Lopez-de Munain, Adolfo; Paradas, Carmen; Pegoraro, El... Other Names: author non-byline.; Munain Adolfo López de author non-byline.; Ramos-Fransi Alba author non-byline.; Nadaj-Pakleza Aleksandra author non-byline.; Alonso-Jiménez Alicia author non-byline.; Martinez-Piñeiro Alicia author non-byline.; Töpf Ana author non-byline.; Oldfors Anders author non-byline.; ... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 10(2022) Page Start: 1099 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Hereditary myopathy with early respiratory failure: occurrence in various populations. Issue 3 (19th April 2013) Authors: Palmio, Johanna; Evilä, Anni; Chapon, Françoise; Tasca, Giorgio; Xiang, Fengqing; Brådvik, Björn; Eymard, Bruno; Echaniz-Laguna, Andoni; Laporte, Jocelyn; Kärppä, Mikko; Mahjneh, Ibrahim; Quinlivan, Rosaline; Laforêt, Pascal; Damian, Maxwell; Berardo, Andres; Taratuto, Ana Lia; Bueri, Jose Antoni... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 85:Issue 3(2014) Page Start: 345 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients. Issue 10 (8th September 2021) Authors: Torelli, Silvia; Scaglioni, Domenic; Sardone, Valentina; Ellis, Matthew J; Domingos, Joana; Jones, Adam; Feng, Lucy; Chambers, Darren; Eastwood, Deborah M; Leturcq, France; Yaou, Rabah Ben; Urtizberea, Andoni; Sabouraud, Pascal; Barnerias, Christine; Stojkovic, Tanya; Ricci, Enzo; Beuvin, Maud; B... Journal: Journal of neuropathology and experimental neurology Issue: Volume 80:Issue 10(2021) Page Start: 955 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗