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Drug Discovery Today|July 18, 2015
Can folic acid have a role in mitochondrial disorders?Aida Ormazabal, Mercedes Casado, Marta Molero-Luis, et al.Annals of Clinical and Translational Neurology|October 18, 2021
Expanding the phenotypic spectrum of BCS1L-related mitochondrial diseaseOmar Hikmat, Pirjo Isohanni, Nandaki Keshavan, et al.Molecular Therapy. Advances|July 12, 2026
Next generation AAV-F capsid gene therapy rescues disease pathology in a model of pyruvate dehydrogenase complex deficiencyAnna Keegan, Özge Çetin, Ellie M Chilcott, et al.Journal of Inherited Metabolic Disease|November 17, 2011
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2Emma Glamuzina, Ruth Brown, Kieran Hogarth, et al.Rapid Communications in Mass Spectrometry : RCM|April 18, 2013
Coenzyme Q10 quantification in muscle, fibroblasts and cerebrospinal fluid by liquid chromatography/tandem mass spectrometry using a novel deuterated internal standardKate E C Duberley, Iain P Hargreaves, Korn-Anong Chaiwatanasirikul, et al.Journal of Inherited Metabolic Disease|September 3, 2017
The presence of anaemia negatively influences survival in patients with POLG diseaseOmar Hikmat, Charalampos Tzoulis, Claus Klingenberg, et al.Molecular Therapy. Methods & Clinical Development|February 3, 2025
Gene therapy prevents hepatic mitochondrial dysfunction in murine deoxyguanosine kinase deficiencyNandaki Keshavan, Miriam Greenwood, Helen Prunty, et al.Journal of Computational Chemistry|June 11, 2026
Structure-Based Design of Isoxazolidine RIPK1 Inhibitors for NeuroinflammationShamima Rahman Shila, Mansour H Almatarneh, Humaera Noor Suha, et al.BMJ Open|January 7, 2012
Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort studyShamima Rahman, Russell Ecob, Harry Costello, et al.Epilepsia|December 5, 2008
Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI featuresNicole I Wolf, Shamima Rahman, Bernhard Schmitt, et al.Pageof 17