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Journal of Medical Genetics|November 5, 2017
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patientsKalliopi Sofou, Irenaeus F M de Coo, Elsebet Ostergaard, et al.Epilepsia|June 20, 2018
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implicationsOmar Hikmat, Karin Naess, Martin Engvall, et al.Orphanet Journal of Rare Diseases|February 12, 2017
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage diseaseMaja Tarailo-Graovac, Britt I Drögemöller, Wyeth W Wasserman, et al.Journal of Inherited Metabolic Disease|July 6, 2019
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolismElizabeth Jennions, Carola Hedberg-Oldfors, Anna-Karin Berglund, et al.Annals of Neurology|September 1, 2017
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictorsJuan Darío Ortigoza-Escobar, Majid Alfadhel, Marta Molero-Luis, et al.Journal of Medical Genetics|December 7, 2021
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre studyKristoffer Björkman, John Vissing, Elsebet Østergaard, et al.Kidney Diseases (Basel, Switzerland)|May 9, 2022
Renal Phenotype in Mitochondrial Diseases: A Multicenter StudyMaria Parasyri, Per Brandström, Johanna Uusimaa, et al.Autoimmunity|May 22, 2016
Autoantibody targets in vaccine-associated narcolepsyAnna Häggmark-Månberg, Arash Zandian, Björn Forsström, et al.Nature Medicine|May 29, 2023
Enasidenib treatment in two individuals with D-2-hydroxyglutaric aciduria carrying a germline IDH2 mutationBirgit Geoerger, Manuel Schiff, Virginie Penard-Lacronique, et al.Journal of Inherited Metabolic Disease|May 12, 2020
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 casesOmar Hikmat, Karin Naess, Martin Engvall, et al.Pageof 10