PuSH - Publication Server of Helmholtz Zentrum München

21 Records found.
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1.
Catarino, C.B.* et al.: Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA. Mitochondrion 36, 15-20 (2016)
2.
Ahting, U.* et al.: Clinical, biochemical, and genetic spectrum of seven new patients with NFU1 deficiency. Front. Genet. 6:123 (2015)
3.
Brea-Calvo, G.* et al.: COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am. J. Hum. Genet. 96, 309-317 (2015)
4.
Koch, J.* et al.: Mutations in TTC19: Expanding the molecular, clinical and biochemical phenotype. Orphanet J. Rare Dis. 10:40 (2015)
5.
Mayr, J.A.* et al.: Spectrum of combined respiratory chain defects. J. Inherit. Metab. Dis. 38, 629-640 (2015)
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.
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)
8.
Siegl, C.* et al.: Alterations of red cell membrane properties in neuroacanthocytosis. PLoS ONE 8:e76715 (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.
Haack, T.B. et al.: Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J. Med. Genet. 49, 277-283 (2012)
11.
Haack, T.B. et al.: Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. J. Inherit. Metab. Dis. 35, 943-948 (2012)
12.
Mayr, J.A.* et al.: Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. Am. J. Hum. Genet. 89, 806-812 (2011)
13.
Pham, T.T. et al.: DJ-1-deficient mice show less TH-positive neurons in the ventral tegmental area and exhibit non-motoric behavioural impairments. Genes Brain Behav. 9, 305-317 (2010)
14.
Ahting, U. et al.: Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import. Biochim. Biophys. Acta-Bioenerg. 1787, 371-376 (2009)
15.
Elstner, M. et al.: MitoP2: An integrative tool for the analysis of the mitochondrial proteome. Mol. Biotechnol. 40, 306-315 (2008)
16.
Prestel, J.* et al.: Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation. J. Neurol. 255, 643-648 (2008)
17.
Perocchi, F.* et al.: Assessing systems properties of yeast mitochondria through an interaction map of the organelle. PLoS Genet. 2, 1612-1624:e170 (2006)
18.
Prokisch, H. et al.: MitoP2: The mitochondrial proteome database-now including mouse data. Nucleic Acids Res. 34, D705-D711 (2006)
19.
Schmitt, S.* et al.: Proteome analysis of mitochondrial outer membrane from Neurospora crassa. Proteomics 6, 72-80 (2006)
20.
Ahting, U. ; Waizenegger, T.* ; Neupert, W.* & Rapaport, D.*: Signal-anchored proteins follow a unique insertion pathway into the outer membrane of mitochondria. J. Biol. Chem. 280, 48-53 (2005)