Associated Papers
Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience.
Almuqbil M et al.
Children (basel, Switzerland), 2025
40868553 (PubMed )
Supplement: children-12-01102-s001.zip › children-3727203-supplementary.pdf
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
Mineri R et al.
Journal of Medical Genetics, 2008
ETHE1 mutations are specific to ethylmalonic encephalopathy.
Tiranti V et al.
Journal of Medical Genetics, 2006
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
Tiranti V et al.
American Journal of Human Genetics, 2004
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