PuSH - Publication Server of Helmholtz Zentrum München

34 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.
Van Bergen, N.J.* et al.: NAD(P)HX dehydratase (NAXD) deficiency: A novel neurodegenerative disorder exacerbated by febrile illnesses. Brain 142, 50-58 (2019)
3.
Alston, C.L.* et al.: Biallelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency. Am. J. Hum. Genet. 103, 592-601 (2018)
4.
Bruni, F.* et al.: Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. Hum. Mutat. 39, 563-578 (2018)
5.
Charif, M.* et al.: Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults. JAMA Neurol. 75, 105-113 (2018)
6.
Lenz, D.* et al.: SCYL1 variants cause a syndrome with low gamma-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). Genet. Med. 20, 1255-1265 (2018)
7.
O'Byrne, J.J.* et al.: The genotypic and phenotypic spectrum of MTO1 deficiency. Mol. Genet. Metab. 123, 28-42 (2018)
8.
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)
9.
Xu, Z.* et al.: Bi-allelic mutations in Phe-tRNA synthetase associated with a multi-system pulmonary disease support non-translational function. Am. J. Hum. Genet. 103, 100-114 (2018)
10.
Ait-El-Mkadem, S.* et al.: Mutations in MDH2, encoding a Krebs cycle enzyme, cause early-onset severe encephalopathy. Am. J. Hum. Genet. 100, 151-159 (2017)
11.
Feichtinger, R.G.* et al.: Biallelic C1QBP mutations cause severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies. Am. J. Hum. Genet. 101, 525-538 (2017)
12.
Glasgow, R.I.C.* et al.: Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. Neurogenetics 18, 1-9 (2017)
13.
Kremer, L.S. et al.: Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat. Commun. 8:15824 (2017)
14.
Maas, R.R.* et al.: Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Ann. Neurol. 82, 1004-1015 (2017)
15.
Sommerville, E.W.* et al.: Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy. JAMA Neurol. 74, 686-694 (2017)
16.
Alston, C.L.* et al.: A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. J. Med. Genet. 53, 634-641 (2016)
17.
Alston, C.L.* et al.: Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype. Am. J. Hum. Genet. 99, 217-227 (2016)
18.
Floyd, B.J.* et al.: Mitochondrial protein interaction mapping identifies regulators of respiratory chain function. Mol. Cell 63, 621-632 (2016)
19.
Kennedy, H.* et al.: Sudden cardiac death due to deficiency of the mitochondrial inorganic pyrophosphatase PPA2. Am. J. Hum. Genet. 99, 674-682 (2016)
20.
Staufner, C.* et al.: Recurrent acute liver failure due to NBAS deficiency: Phenotypic spectrum, disease mechanisms, and therapeutic concepts. J. Inherit. Metab. Dis. 39, 3-16 (2016)