1. Cardiac manifestations of McArdle disease. (7th December 2018) Authors: Jones, Daniel M; Lopes, Luis; Quinlivan, Rosaline; Elliott, Perry M; Khanji, Mohammed Y Journal: European heart journal Issue: Volume 40:Number 4(2019) Page Start: 397 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Genotype‐related respiratory progression in Duchenne muscular dystrophy—A multicenter international study. Issue 1 (27th October 2021) Authors: Trucco, Federica; Ridout, Deborah; Domingos, Joana; Maresh, Kate; Chesshyre, Mary; Munot, Pinki; Sarkozy, Anna; Robb, Stephanie; Quinlivan, Rosaline; Riley, Mollie; Wallis, Colin; Chan, Elaine; Abel, Francois; De Lucia, Silvana; Hogrel, Jean‐Yves; Niks, Erik H.; de Groot, Imelda; Servais, Laurent... Journal: Muscle & nerve Issue: Volume 65:Issue 1(2022) Page Start: 67 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. (30th April 2019) Authors: Bugiardini, Enrico; Mitchell, Alice L; Rosa, Ilaria Dalla; Horning-Do, Hue-Tran; Pitmann, Alan M; Poole, Olivia V; Holton, Janice L; Shah, Sachit; Woodward, Cathy; Hargreaves, Iain; Quinlivan, Rosaline; Amunts, Alexey; Wiesner, Rudolf J; Houlden, Henry; Holt, Ian J; Hanna, Michael G; Pitceathly, ... Journal: Human molecular genetics Issue: Volume 28:Number 16(2019) Page Start: 2711 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant. (April 2020) Authors: Poole, Olivia V.; Horga, Alejandro; Hardy, Steven A.; Bugiardini, Enrico; Woodward, Cathy E.; Hargreaves, Iain P.; Merve, Ashirwad; Quinlivan, Rosaline; Taylor, Robert W.; Hanna, Michael G.; Pitceathly, Robert D.S. Journal: Neurology Issue: Volume 6:Number 2(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Phenotype and genotype of 197 British patients with McArdle disease: An observational single‐centre study. Issue 6 (22nd September 2021) Authors: Pizzamiglio, Chiara; Mahroo, Omar A.; Khan, Kamron N.; Patasin, Maria; Quinlivan, Rosaline Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 6(2021) Page Start: 1409 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Prevalence of Pompe disease in 3, 076 patients with hyperCKemia and limb-girdle muscular weakness. (19th July 2016) Authors: Lukacs, Zoltan; Nieves Cobos, Paulina; Wenninger, Stephan; Willis, Tracey A.; Guglieri, Michela; Roberts, Marc; Quinlivan, Rosaline; Hilton-Jones, David; Evangelista, Teresinha; Zierz, Stephan; Schlotter-Weigel, Beate; Walter, Maggie C.; Reilich, Peter; Klopstock, Thomas; Deschauer, Marcus; Strau... Journal: Neurology Issue: Volume 87:Number 3(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Primary mitochondrial diseases increase susceptibility to bipolar affective disorder. Issue 8 (11th June 2020) Authors: Colasanti, Alessandro; Bugiardini, Enrico; Amawi, Sami; Poole, Olivia V; Skorupinska, Iwona; Skorupinska, Mariola; Germain, Louise; Kozyra, Damian; Holmes, Sarah; James, Natalie; Woodward, Cathy E; Quinlivan, Rosaline; Young, Allan H; Hanna, Michael G; Pitceathly, Robert D S Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 91:Issue 8(2020) Page Start: 892 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) ↗