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Journal of Clinical Medicine|July 27, 2019
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label TrialBridget E Bax, Michelle Levene, Murray D Bain, et al.Brain : a Journal of Neurology|September 9, 2016
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypesEmma S Reid, Apostolos Papandreou, Suzanne Drury, et al.Neurology|May 9, 2014
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutationAlessio Di Fonzo, Dario Ronchi, Francesca Gallia, et al.Journal of Inherited Metabolic Disease|March 18, 2017
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke projectAmel Karaa, Shamima Rahman, Anne Lombès, et al.Journal of Inherited Metabolic Disease|July 9, 2017
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patientsEwa Pronicka, Mariola Ropacka-Lesiak, Joanna Trubicka, et al.Journal of Inherited Metabolic Disease|February 8, 2020
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensusMaaike C De Vries, David A Brown, Mitchell E Allen, et al.Brain Communications|February 25, 2021
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disordersShekeeb S Mohammad, Rajeshwar Reddy Angiti, Andrew Biggin, et al.Journal of Neurology|June 1, 2024
Status epilepticus in POLG disease: a large multinational studyOmar Hikmat, Karin Naess, Martin Engvall, et al.Orphanet Journal of Rare Diseases|July 9, 2013
SURF1 deficiency: a multi-centre natural history studyYehani Wedatilake, Ruth M Brown, Robert McFarland, et al.Human Genetics|November 2, 2019
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pairAlejandro Horga, Catherine E Woodward, Alberto Mills, et al.Pageof 17