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Archives of Disease in Childhood|June 26, 2017
Recognition, investigation and management of mitochondrial diseaseJames E Davison, Shamima RahmanNature Reviews. Neurology|November 20, 2018
POLG-related disorders and their neurological manifestationsShamima Rahman, William C CopelandHuman Molecular Genetics|September 23, 2010
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyElisa Fassone, Andrew J Duncan, Jan-Willem Taanman, et al.Journal of Inherited Metabolic Disease|January 26, 2019
Disorders of riboflavin metabolismShanti Balasubramaniam, John Christodoulou, Shamima RahmanJournal of Inherited Metabolic Disease|June 14, 2024
Mitochondrial membrane synthesis, remodelling and cellular traffickingMartina Messina, Frédéric M Vaz, Shamima RahmanOrphanet Journal of Rare Diseases|July 3, 2016
TRNT1 deficiency: clinical, biochemical and molecular genetic featuresYehani Wedatilake, Rojeen Niazi, Elisa Fassone, et al.Journal of Inherited Metabolic Disease|March 28, 2019
Cerebral folate deficiency: Analytical tests and differential diagnosisSimon Pope, Rafael Artuch, Simon Heales, et al.Journal of Inherited Metabolic Disease|January 3, 2024
Gene therapy for mitochondrial disordersNandaki Keshavan, Michal Minczuk, Carlo Viscomi, et al.Annals of Neurology|September 25, 2024
Interferon Stimulated Gene Expression Is a Biomarker for Primary Mitochondrial DiseaseNandaki Keshavan, Lana Mhaldien, Kimberly Gilmour, et al.Frontiers in Genetics|February 19, 2019
Systems Biology Approaches Toward Understanding Primary Mitochondrial DiseasesElaina M Maldonado, Fatma Taha, Joyeeta Rahman, et al.Pageof 17