PuSH - Publication Server of Helmholtz Zentrum München

27 Records found.
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1.
Stenton, S. ; Kremer, L.S. ; Kopajtich, R. ; Ludwig, C.* & Prokisch, H.: The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics and proteomics. J. Inherit. Metab. Dis., 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.
Kremer, L.S. ; Wortmann, S.B. & Prokisch, H.: "Transcriptomics": Molecular diagnosis of inborn errors of metabolism via RNA-sequencing. J. Inherit. Metab. Dis. 41, 525-532 (2018)
5.
Kremer, L.S.: Um die Ecke gedacht: Molekulargenetische Diagnose mit Transkriptomanalyse. BioSpektrum 24, 475-478 (2018)
6.
Perkins, L.A.* et al.: Genetically targeted ratiometric and activated pH indicator complexes (TRApHIC) for receptor trafficking. Biochemistry 57, 861-871 (2018)
7.
Yepez, V.* et al.: OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using seahorse XF analyzer. PLoS ONE 13:e0199938 (2018)
8.
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)
9.
Hempel, M.* et al.: LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study. Mitochondrion 37, 55-61 (2017)
10.
Kremer, L.S. & Prokisch, H.: Identification of disease-causing mutations by functional complementation of patient-derived fibroblast cell lines. Methods Mol. Biol. 1567, 391-406 (2017)
11.
Kremer, L.S. et al.: Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat. Commun. 8:15824 (2017)
12.
Floyd, B.J.* et al.: Mitochondrial protein interaction mapping identifies regulators of respiratory chain function. Mol. Cell 63, 621-632 (2016)
13.
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)
14.
Holzerova, E. et al.: Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration. Brain 139, 346-354 (2016)
15.
Kennedy, H.* et al.: Sudden cardiac death due to deficiency of the mitochondrial inorganic pyrophosphatase PPA2. Am. J. Hum. Genet. 99, 674-682 (2016)
16.
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)
17.
Kremer, L.S. et al.: Severe respiratory complex III defect prevents liver adaptation to prolonged fasting. J. Hepatol. 65, 377-385 (2016)
18.
Kremer, L.S. et al.: NAXE mutations disrupt the cellular NAD(P)HX repair system and cause a lethal neurometabolic disorder of early childhood. Am. J. Hum. Genet. 99, 894-902 (2016)
19.
van Haute, L.* et al.: Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3. Nat. Commun. 7:12039 (2016)
20.
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)