1. 1353The Induction of Endotoxin Tolerance is Associated with the Activation of Mitochondrial Biogenesis in THP-1 Cells. (December 2014) Authors: Widdrington, John; Gomez-Duran, Aurora; Pyle, Angela; Ruchaud-Sparagano, Marie-Helene; Chinnery, Patrick; Simpson, John Journal: Open forum infectious diseases Issue: Volume 1(2014)Supplement 1 Page Start: S354 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 274 Exome analysis to investigate autosomal dominant vasovagal syncope. Issue 10 (13th September 2018) Authors: Jesuthasan, Aaron; Keogh, Michael; Chinnery, Patrick Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 89:Issue 10(2018) Page Start: A40 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 580 MitoPhen: A human phenotype ontology-based tool to identify mitochondrial DNA disease. (17th August 2022) Authors: Ratnaike, Thiloka; Greene, Daniel; Paramanov, Ida; Matalonga, Leslie; Schon, Katherine; Ameele, Jelle van den; Horvath, Rita; Turro, Ernest; Chinnery, Patrick Journal: Archives of disease in childhood Issue: Volume 107(2022)Supplement 2 Page Start: A224 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A GENETIC WEAKNESS—PHOENICIAN LEGACY OR CELTIC HERITAGE?. Issue 10 (9th September 2014) Authors: Ng, Yi; Alston, Charlotte; Horvath, Rita; Farrugia, Maria; Chinnery, Patrick; Turnbull, Douglass; Taylor, Robert; McFarland, Robert; Schaefer, Andrew; Gorman, Grainne Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 85:Issue 10(2014) Page Start: e4 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. High prevalence of focal and multi-focal somatic genetic variants in the human brain. Issue 1 (December 2018) Authors: Keogh, Michael; Wei, Wei; Aryaman, Juvid; Walker, Lauren; Ameele, Jelle; Coxhead, Jon; Wilson, Ian; Bashton, Matthew; Beck, Jon; West, John; Chen, Richard; Haudenschild, Christian; Bartha, Gabor; Luo, Shujun; Morris, Chris; Jones, Nick; Attems, Johannes; Chinnery, Patrick Journal: Nature communications Issue: Volume 9:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mitochondrial pathology in progressive cerebellar ataxia. Issue 1 (December 2015) Authors: Bargiela, David; Shanmugarajah, Priya; Lo, Christine; Blakely, Emma; Taylor, Robert; Horvath, Rita; Wharton, Stephen; Chinnery, Patrick; Hadjivassiliou, Marios Journal: Cerebellum & ataxias Issue: Volume 2:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. P3–001: Mitochondrial genome‐wide association study of Alzheimer's disease. (1st July 2013) Authors: Hudson, Gavin; Sims, Rebecca; Chinnery, Patrick; Williams, Julie; Harold, Denise Journal: Alzheimer's & dementia Issue: Volume 9:Supplement 4S(2013)Part 14 Page Start: P550 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. Issue 21 (21st November 2017) Authors: Hadinnapola, Charaka; Bleda, Marta; Haimel, Matthias; Screaton, Nicholas; Swift, Andrew; Dorfmüller, Peter; Preston, Stephen D.; Southwood, Mark; Hernandez-Sanchez, Jules; Martin, Jennifer; Treacy, Carmen; Yates, Katherine; Bogaard, Harm; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, P... Journal: Circulation Issue: Volume 136:Issue 21(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Reader Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis. (3rd January 2023) Authors: Schon, Katherine; Chinnery, Patrick Journal: Neurology Issue: Volume 100:Number 1(2023) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. THE MEDICAL RESEARCH COUNCIL NEUROMUSCULAR CENTRE FOR TRANSLATIONAL RESEARCH MITOCHONDRIAL DISEASE PATIENT COHORT STUDY UK: FROM CONCEPTUALISATION TO UTILISATION. Issue 11 (9th October 2013) Authors: Nesbitt, Victoria; Pitceathly, Robert; Cockell, Simon; Poulton, Joanna; Rahman, Shamima; Hanna, Michael; Taylor, Robert; Chinnery, Patrick; Turnbull, Douglass; McFarland, Robert Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 84:Issue 11(2013) Page Start: e2 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗