1. A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies. (19th January 2018) Authors: Bartsakoulia, Marina; Pyle, Angela; Troncoso-Chandía, Diego; Vial-Brizzi, Josefa; Paz-Fiblas, Marysol V; Duff, Jennifer; Griffin, Helen; Boczonadi, Veronika; Lochmüller, Hanns; Kleinle, Stephanie; Chinnery, Patrick F; Grünert, Sarah; Kirschner, Janbernd; Eisner, Verónica; Horvath, Rita Journal: Human molecular genetics Issue: Volume 27:Number 7(2018:Apr. 01) Page Start: 1186 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical presentation and proteomic signature of patients with TANGO2 mutations. Issue 2 (13th August 2019) Authors: Mingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L.; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B. T.; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos; García‐Cazorla, Angel... Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 2(2020) Page Start: 297 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum. Issue 11 (7th April 2022) Authors: Mroczek, Magdalena; Longman, Cheryl; Farrugia, Maria Elena; Kapetanovic Garcia, Solange; Ardicli, Didem; Topaloglu, Haluk; Hernández-Laín, Aurelio; Orhan, Diclehan; Alikasifoglu, Mehmet; Duff, Jennifer; Specht, Sabine; Nowak, Kristen; Ravenscroft, Gianina; Chao, Katherine; Valivullah, Zaheer; Don... Journal: Journal of medical genetics Issue: Volume 59:Issue 11(2022) Page Start: 1069 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic heterogeneity of motor neuropathies. (28th March 2017) Authors: Bansagi, Boglarka; Griffin, Helen; Whittaker, Roger G.; Antoniadi, Thalia; Evangelista, Teresinha; Miller, James; Greenslade, Mark; Forester, Natalie; Duff, Jennifer; Bradshaw, Anna; Kleinle, Stephanie; Boczonadi, Veronika; Steele, Hannah; Ramesh, Venkateswaran; Franko, Edit; Pyle, Angela; Lochmü... Journal: Neurology Issue: Volume 88:Number 13(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood. (April 2016) Authors: Lewis-Smith, David; Kamer, Kimberli J.; Griffin, Helen; Childs, Anne-Marie; Pysden, Karen; Titov, Denis; Duff, Jennifer; Pyle, Angela; Taylor, Robert W.; Yu-Wai-Man, Patrick; Ramesh, Venkateswaran; Horvath, Rita; Mootha, Vamsi K.; Chinnery, Patrick F. Journal: Neurology Issue: Volume 2:Number 2(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype. Issue 5 (25th August 2020) Authors: Knuutinen, Oula; Pyle, Angela; Suo‐Palosaari, Maria; Duff, Jennifer; Froukh, Tawfiq; Lehesjoki, Anna‐Elina; Kangas, Salla M.; Cassidy, James; Maraqa, Latifa; Keski‐Filppula, Riikka; Kokkonen, Hannaleena; Uusimaa, Johanna; Horvath, Rita; Vieira, Päivi Journal: Clinical genetics Issue: Volume 98:Issue 5(2020) Page Start: 493 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Implementation of a mock root cause analysis to provide simulated patient safety training. Issue 2 (31st October 2017) Authors: Murphy, Martina; Duff, Jennifer; Whitney, Julie; Canales, Benjamin; Markham, Merry-Jennifer; Close, Julia Journal: BMJ open quality Issue: Volume 6:Issue 2(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization. (December 2013) Authors: Pyle, Angela; Griffin, Helen; Duff, Jennifer; Bennett, Shona; Zwolinski, Simon; Smertenko, Tania; Yu-Wai Man, Patrick; Santibanez-Koref, Mauro; Horvath, Rita; Chinnery, Patrick F. Journal: Journal of neurogenetics Issue: Volume 27:Number 4(2013) Page Start: 176 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency. (31st October 2020) Authors: Hathazi, Denisa; Griffin, Helen; Jennings, Matthew J; Giunta, Michele; Powell, Christopher; Pearce, Sarah F; Munro, Benjamin; Wei, Wei; Boczonadi, Veronika; Poulton, Joanna; Pyle, Angela; Calabrese, Claudia; Gomez‐Duran, Aurora; Schara, Ulrike; Pitceathly, Robert D S; Hanna, Michael G; Joost, Kai... Journal: EMBO journal Issue: Volume 39:Number 23(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation. (22nd May 2018) Authors: Bansagi, Boglarka; Phan, Vietxuan; Baker, Mark R.; O'Sullivan, Julia; Jennings, Matthew J.; Whittaker, Roger G.; Müller, Juliane S.; Duff, Jennifer; Griffin, Helen; Miller, James A.L.; Gorman, Grainne S.; Lochmüller, Hanns; Chinnery, Patrick F.; Roos, Andreas; Swan, Laura E.; Horvath, Rita Journal: Neurology Issue: Volume 90:Number 21(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗