TMEM70 deficiency: long-term outcome of 48 patients

[1]  V. Goyal,et al.  Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients. , 2015, Mitochondrion.

[2]  M. Zeviani,et al.  Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy. , 2015, JIMD reports.

[3]  E. Bertini,et al.  Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients. , 2014, Molecular genetics and metabolism.

[4]  K. Hejzlarová,et al.  Mitochondrial membrane assembly of TMEM70 protein. , 2014, Mitochondrion.

[5]  K. Hejzlarová,et al.  Nuclear genetic defects of mitochondrial ATP synthase. , 2014, Physiological research.

[6]  M. Khayat,et al.  A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy. , 2013, Gene.

[7]  A. Doronjski,et al.  Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes , 2013, Journal of pediatric endocrinology & metabolism : JPEM.

[8]  R. Rodenburg,et al.  3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients , 2013, Journal of Inherited Metabolic Disease.

[9]  E. Bertini,et al.  TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis , 2012, neurogenetics.

[10]  T. Ojala,et al.  New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies , 2012, Pediatric Research.

[11]  V. Rubio,et al.  Suggested guidelines for the diagnosis and management of urea cycle disorders , 2012, Orphanet Journal of Rare Diseases.

[12]  M. Baumgartner,et al.  Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. , 2012, American journal of human genetics.

[13]  K. Vesela,et al.  Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis , 2012, Journal of Inherited Metabolic Disease.

[14]  M. Huynen,et al.  Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology. , 2011, Mitochondrion.

[15]  F. Tort,et al.  Screening for nuclear genetic defects in the ATP synthase‐associated genes TMEM70, ATP12 and ATP5E in patients with 3‐methylglutaconic aciduria , 2011, Clinical genetics.

[16]  C. Ackerley,et al.  Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. , 2011, Mitochondrion.

[17]  K. Hejzlarová,et al.  Expression and processing of the TMEM70 protein. , 2011, Biochimica et biophysica acta.

[18]  H. Mandel,et al.  TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome , 2010, Journal of Medical Genetics.

[19]  J. Towbin,et al.  Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. , 2010, Molecular genetics and metabolism.

[20]  M. Tesařová,et al.  Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation , 2010, Archives of Disease in Childhood.

[21]  R. Rodenburg,et al.  Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. , 2009, Brain : a journal of neurology.

[22]  K. Hejzlarová,et al.  TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy , 2008, Nature Genetics.

[23]  Y. Chien,et al.  Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review , 2008, European Journal of Pediatrics.

[24]  E. Holme,et al.  Deficiency of mitochondrial ATP synthase of nuclear genetic origin , 2006, Neuromuscular Disorders.

[25]  D. Toniolo,et al.  Barth syndrome presenting with acute metabolic decompensation in the neonatal period , 2006, Journal of Inherited Metabolic Disease.

[26]  B. Byrne,et al.  Cardiac and Clinical Phenotype in Barth Syndrome , 2006, Pediatrics.

[27]  Sarah Calvo,et al.  Systematic identification of human mitochondrial disease genes through integrative genomics , 2006, Nature Genetics.

[28]  H. Antonicka,et al.  A novel deficiency of mitochondrial ATPase of nuclear origin. , 1999, Human molecular genetics.

[29]  Lactic acid and hyperuricemia of faulty renal urate transport. , 1967, JAMA.