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19 Records found.
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1.
Iuso, A. et al.: Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy. Am. J. Hum. Genet. 102, 1018-1030 (2018)
2.
Iuso, A. et al.: A homozygous splice site mutation in SLC25A42, encoding the mitochondrial transporter of coenzyme A, causes metabolic crises and epileptic encephalopathy. JIMD Rep., accepted (2018)
3.
Yepez, V.* et al.: OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using seahorse XF analyzer. PLoS ONE 13:e0199938 (2018)
4.
Carecchio, M.* et al.: Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: A de novo PSEN-1 mutation. Neurogenetics 18, 175-178 (2017)
5.
Iuso, A. ; Repp, B.* ; Biagosch, C. ; Terrile, C. & Prokisch, H.: Assessing mitochondrial bioenergetics in isolated mitochondria from various mouse tissues using seahorse XF96 analyzer. Methods Mol. Biol. 1567, 217-230 (2017)
6.
Kremer, L.S. et al.: Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat. Commun. 8:15824 (2017)
7.
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)
8.
Haack, T.B. et al.: Absence of the autophagy adaptor SQSTM1/p62 causes childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy. Am. J. Hum. Genet. 99, 735-743 (2016)
9.
Koch, J.* et al.: Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. J. Med. Genet. 53, 270-278 (2016)
10.
Kremer, L.S. et al.: Biallelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy. Am. J. Hum. Genet. 98, 358-362 (2016)
11.
Venco, P.* et al.: Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+. Front. Genet. 6:185 (2015)
12.
Iuso, A. et al.: Impairment of Drosophila orthologs of the human orphan protein c19orf12 induces bang sensitivity and neurodegeneration. PLoS ONE 9:e89439 (2014)
13.
Kornblum, C.* et al.: Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat. Genet. 45, 214-219 (2013)
14.
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)
15.
Haack, T.B. et al.: Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J. Med. Genet. 49, 277-283 (2012)
16.
Danhauser, K. et al.: Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. Mol. Genet. Metab. 103, 161-166 (2011)
17.
Hartig, M.B. et al.: Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am. J. Hum. Genet. 89, 543-550 (2011)
18.
Haack, T.B. et al.: Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat. Genet. 42, 1131-1134 (2010)
19.
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)