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15 Records found.
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1.
Alhaddad, B.* et al.: PRUNE1 deficiency: Expanding the clinical and genetic spectrum. Neuropediatrics 49, 330-338 (2018)
2.
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)
3.
Kuechler, A.* et al.: Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: A recognizable condition. Eur. J. Hum. Genet. 25, 183-191 (2017)
4.
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)
5.
Koch, J.* et al.: CAD mutations and uridine-responsive epileptic encephalopathy. Brain 140, 279-286 (2016)
6.
Koch, J.* et al.: Mutations in TTC19: Expanding the molecular, clinical and biochemical phenotype. Orphanet J. Rare Dis. 10:40 (2015)
7.
Mayr, J.A.* et al.: Spectrum of combined respiratory chain defects. J. Inherit. Metab. Dis. 38, 629-640 (2015)
8.
Oláhová, M.* et al.: LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain 138, 3503-3519 (2015)
9.
Sperl, W.J.K.* et al.: The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. J. Inherit. Metab. Dis. 38, 391-403 (2015)
10.
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)
11.
Mayr, J.A.* et al.: Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. Mol. Genet. Metab. 103, 358-361 (2011)
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.
Naumann, A.* et al.: A comprehensive analysis of the COL29A1 gene does not support a role in eczema. J. Allergy Clin. Immunol. 127, 1187-1194 (2011)
14.
Herzer, M. et al.: Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. Neuropediatrics 41, 30-34 (2010)
15.
Fedorova, E.* et al.: The nuclear organization of Polycomb/Trithorax group response elements in larval tissues of Drosophila melanogaster. Chromosome Res. 16, 649-673 (2008)