TMEM70 deficiency: long-term outcome of 48 patients

Mitochondrial membrane assembly of TMEM70 protein

(2014) Hana Kratochvílová et al.   MITOCHONDRION

Persistent pulmonary arterial hypertension in the newborn (PPHN): A frequent manifestation of TMEM70 defective patients

(2014) Michela Catteruccia et al.   MOLECULAR GENETICS AND METABOLISM

3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients

(2013) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

(2012) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy

(2012) Zeynep Atay et al.   GENE

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

(2012) Tomas Honzik et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes

(2012) Vesna Stojanović et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis

(2012) Alessandra Torraco et al.   NEUROGENETICS

Suggested guidelines for the diagnosis and management of urea cycle disorders

(2012) Johannes Häberle et al.   Orphanet Journal of Rare Diseases

New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia and male genital anomalies

(2012) Tiina Ojala et al.   PEDIATRIC RESEARCH

Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria

(2011) F Tort et al.   CLINICAL GENETICS

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology

(2011) An I. Jonckheere et al.   MITOCHONDRION

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

(2010) T. Honzik et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Expression and processing of the TMEM70 protein

(2010) Kateřina Hejzlarová et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

(2010) R. Spiegel et al.   JOURNAL OF MEDICAL GENETICS

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization

(2010) Jessie M. Cameron et al.   MITOCHONDRION

Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70

(2010) Oleg A. Shchelochkov et al.   MOLECULAR GENETICS AND METABOLISM

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

(2008) Saskia B. Wortmann et al.   BRAIN

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

(2008) Alena Čížková et al.   NATURE GENETICS