Associated Papers
Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.
Tauchmannová K et al.
Physiological Research, 2024
Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.
Mackay L et al.
American Journal of Medical Genetics. Part A, 2023
From the Structural and (Dys)Function of ATP Synthase to Deficiency in Age-Related Diseases.
Garone C et al.
Life (basel, Switzerland), 2022
Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.
Schijvens AM et al.
Kidney International Reports, 2020
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
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
Catteruccia M et al.
Molecular Genetics and Metabolism, 2014
Mitochondrial membrane assembly of TMEM70 protein.
Kratochvílová H et al.
Mitochondrion, 2014
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.
Torraco A et al.
Neurogenetics, 2012
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