PuSH - Publication Server of Helmholtz Zentrum München

10 Records found.
Zum Exportieren der Ergebnisse bitte einloggen.
Lay all publications on this page into basket
1.
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)
2.
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)
3.
Szibor, M.* et al.: Broad AOX expression in a genetically tractable mouse model does not disturb normal physiology. Dis. Model. Mech. 10, 163-171 (2017)
4.
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)
5.
Becker, L. et al.: MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy. PLoS ONE 9:e114918 (2014)
6.
Haack, T.B. et al.: Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. Mol. Genet. Metab. 111, 342-352 (2014)
7.
Gispert, S.* et al.: Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA, and inflammatory factors. Hum. Mol. Genet. 22, 4871-4887 (2013)
8.
Haack, T.B. et al.: Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. J. Inherit. Metab. Dis. 36, 55-62 (2013)
9.
Haack, T.B. et al.: Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J. Med. Genet. 49, 277-283 (2012)
10.
Haack, T.B. et al.: Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat. Genet. 42, 1131-1134 (2010)