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12 Records found.
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1.
Saoura, M.* et al.: Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. Hum. Mutat., accepted (2019)
2.
Charif, M.* et al.: Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults. JAMA Neurol. 75, 105-113 (2018)
3.
Repp, B. et al.: Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? Orphanet J. Rare Dis. 13:120 (2018)
4.
Diodato, D.* et al.: Common and novel TMEM70 mutations in a cohort of Italian patients with mitochondrial encephalocardiomyopathy. JIMD Rep. 15, 71-78 (2015)
5.
Diodato, D.* et al.: VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Hum. Mutat. 35, 983-989 (2014)
6.
Kopajtich, R. et al.: Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am. J. Hum. Genet. 59, 708-720 (2014)
7.
Melchionda, L.* et al.: Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Am. J. Hum. Genet. 95, 315-325 (2014)
8.
Baruffini, E.* et al.: MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Hum. Mutat. 34, 1501-1509 (2013)
9.
Haack, T.B. et al.: Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. J. Med. Genet. 49, 83-89 (2012)
10.
Mayr, J.A.* et al.: Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am. J. Hum. Genet. 90, 314-320 (2012)
11.
Haack, T.B. et al.: Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat. Genet. 42, 1131-1134 (2010)
12.
Horvath, R.* et al.: Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 129, 1674-1684 (2006)