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
Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.
Schijvens AM et al.
Kidney International Reports, 2020
[Molecular bases of diseases caused by mutations in genes encoding subunits of ATP synthase].
Baranowska E et al.
Postepy Biochemii, 2018
Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth.
Modi BP et al.
Bmc Medical Genetics, 2018
TMEM70 deficiency: long-term outcome of 48 patients.
Magner M et al.
Journal of Inherited Metabolic Disease, 2015
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy.
Diodato D et al.
Jimd Reports, 2015
Mitochondrial membrane assembly of TMEM70 protein.
Kratochvílová H et al.
Mitochondrion, 2014
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.
Spiegel R et al.
Journal of Medical Genetics, 2011
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