PuSH - Publication Server of Helmholtz Zentrum München

10 Records found.
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1.
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)
2.
Habarou, F.* et al.: Biallelic mutations in LIPT2 cause a mitochondrial lipoylation defect associated with severe neonatal encephalopathy. Am. J. Hum. Genet. 101, 283-290 (2017)
3.
Collet, M.* et al.: High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood. Eur. J. Hum. Genet., accepted (2015)
4.
Schiff, M.* et al.: Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. Hum. Mol. Genet. 24, 3238-3247 (2015)
5.
Haghighi, A.* et al.: Sengers syndrome: Six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. Orphanet J. Rare Dis. 9:119 (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.
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)
8.
Gerards, M.* et al.: Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: New function for an old gene. Brain 134, 210-219 (2011)
9.
Heeringa, S.F.* et al.: COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J. Clin. Invest. 121, 2013-2024 (2011)
10.
O'Toole, J.F.* et al.: Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J. Clin. Invest. 120, 791-802 (2010)