Associated Papers
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
Kistol D et al.
International Journal of Molecular Sciences, 2023
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
Tolomeo D et al.
Journal of Clinical Medicine, 2021
34362006 (PubMed )
Supplement: jcm-10-03222-s001.zip › jcm-1250779-conversion › Table_S2A.pdf
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.
Akter H et al.
Npj Genomic Medicine, 2021
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.
Kose M et al.
Molecular Genetics and Metabolism Reports, 2020
Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.
Ribeiro C et al.
Mitochondrion, 2016
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