Associated Papers
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies.
Hosseinpour S et al.
Brain & Development, 2024
Two novel SUCLA2 variants cause mitochondrial DNA depletion syndrome, type 5 in two siblings.
Zhang X et al.
Frontiers in Neurology, 2024
Succinyl-CoA Synthetase Dysfunction as a Mechanism of Mitochondrial Encephalomyopathy: More than Just an Oxidative Energy Deficit.
Lancaster MS et al.
International Journal of Molecular Sciences, 2023
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands.
Mortensen Ó et al.
European Journal of Human Genetics : Ejhg, 2023
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Forny P et al.
Nature Metabolism, 2023
Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.
Schijvens AM et al.
Kidney International Reports, 2020
SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease.
Gut P et al.
Nature Communications, 2020
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.
Couser NL et al.
American Journal of Medical Genetics. Part A, 2017
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo R et al.
Journal of Inherited Metabolic Disease, 2016
SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).
Maas RR et al.
Jimd Reports, 2016
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
Matilainen S et al.
European Journal of Human Genetics : Ejhg, 2015
[SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature].
Liu Z et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Mitochondrial depletion syndromes in children and adults.
Finsterer J et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2013
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.
Valayannopoulos V et al.
Mitochondrion, 2010
Ophthalmological findings in children and young adults with genetically verified mitochondrial disease.
Grönlund MA et al.
The British Journal of Ophthalmology, 2010
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.
Morava E et al.
Mitochondrion, 2009
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Wortmann SB et al.
Brain : a Journal of Neurology, 2009
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.
Ostergaard E et al.
Brain : a Journal of Neurology, 2007
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Carrozzo R et al.
Brain : a Journal of Neurology, 2007
Mutations in SUCLA2: a tandem ride back to the Krebs cycle.
Chinnery PF
Brain : a Journal of Neurology, 2007