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Developmental Medicine and Child Neurology|September 25, 2012
Inborn errors of metabolism causing epilepsyShamima Rahman, Emma J Footitt, Sophia Varadkar, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 12, 2013
Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular featuresCarlotta Spagnoli, Matthew C Pitt, Shamima Rahman, et al.
Molecular Genetics and Metabolism|February 1, 2026
Clinical and biochemical footprints of primary mitochondrial disorders: proposed nosologyMartina Messina, Rebecca Ganetzky, Carlos R Ferreira, et al.
Annals of Neurology|October 28, 2015
Leigh syndrome: One disorder, more than 75 monogenic causesNicole J Lake, Alison G Compton, Shamima Rahman, et al.
Plos One|July 4, 2018
Near infrared spectroscopy with a vascular occlusion test as a biomarker in children with mitochondrial and other neuro-genetic disordersSainath Raman, Latifa Chentouf, Catherine DeVile, et al.
Journal of Inherited Metabolic Disease|December 11, 2022
Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genesAzizia Wahedi, Chandika Soondram, Alan E Murphy, et al.
Pharmacological Research|March 10, 2024
IUPHAR ECR review: Cancer-related anorexia-cachexia in cancer patients: Pathophysiology and treatmentIftekhar Hossain Chowdhury, Shamima Rahman, Yeasmin Jahan Afroze, et al.
European Journal of Human Genetics : EJHG|July 21, 2021
Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiencyEleanor Hay, Louise C Wilson, Bethan Hoskins, et al.
Neuroradiology|November 5, 2025
Imaging patterns of paediatric CNS mitochondrial disordersPritika Gaur, Cesar Alves, Harun Yildiz, et al.
European Journal of Heart Failure|January 20, 2010
Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain diseaseGiuseppe Limongelli, Maite Tome-Esteban, Charungthai Dejthevaporn, et al.
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