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Neurology. Genetics|November 24, 2016
Phenotypic convergence of Menkes and Wilson diseaseBoglarka Bansagi, David Lewis-Smith, Endre Pal, et al.JIMD Reports|February 23, 2013
NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh SyndromeAdela Della Marina, Ulrike Schara, Angela Pyle, et al.Frontiers in Genetics|February 24, 2015
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylationLiliya Euro, Svetlana Konovalova, Jorge Asin-Cayuela, et al.Brain : a Journal of Neurology|December 16, 2014
Exome sequencing in undiagnosed inherited and sporadic ataxiasAngela Pyle, Tania Smertenko, David Bargiela, et al.The Journal of Allergy and Clinical Immunology|February 19, 2022
Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiencyFlorian Gothe, Jarmila Stremenova Spegarova, Catherine F Hatton, et al.Brain : a Journal of Neurology|May 12, 2012
Titin mutation segregates with hereditary myopathy with early respiratory failureGerald Pfeffer, Hannah R Elliott, Helen Griffin, et al.Human Molecular Genetics|January 24, 2018
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathiesMarina Bartsakoulia, Angela Pyle, Diego Troncoso-Chandía, et al.Human Molecular Genetics|April 13, 2018
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neuronsVeronika Boczonadi, Kathrin Meyer, Humberto Gonczarowska-Jorge, et al.Neurology. Genetics|April 29, 2016
Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhoodDavid Lewis-Smith, Kimberli J Kamer, Helen Griffin, et al.Journal of Neuromuscular Diseases|November 19, 2016
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial DiseaseMaria Wesolowska, Grainne S Gorman, Charlotte L Alston, et al.Pageof 6