PuSH - Publication Server of Helmholtz Zentrum München

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1.
Blok, L.S.* et al.: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018). Nat. Commun. 10:883 (2019)
2.
Krenn, M.* et al.: Biallelic mutations in PIGP cause developmental and epileptic encephalopathy. Ann. Clin. Transl. Neurol. 6, 968-973 (2019)
3.
Snijders Blok, L.* et al.: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018). Nat. Commun. 10:2079 (2019)
4.
Wagner, M. et al.: Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease. J. Inherit. Metab. Dis., accepted (2019)
5.
Wortmann, S.B. & Mayr, J.A.*: Choline-related-inherited metabolic diseases - A mini review. J. Inherit. Metab. Dis. 42, 237-242 (2019)
6.
Kovács-Nagy, R.* et al.: HTRA2 defect: A recognizable inborn error of metabolism with 3-methylglutaconic aciduria as discriminating feature characterized by neonatal movement disorder and epilepsy-report of 11 patients. Neuropediatrics 49, 373-378 (2018)
7.
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)
8.
O'Byrne, J.J.* et al.: The genotypic and phenotypic spectrum of MTO1 deficiency. Mol. Genet. Metab. 123, 28-42 (2018)
9.
Piekutowska-Abramczuk, D.* et al.: NDUFB8 mutations cause mitochondrial complex I deficiency in individuals with leigh-like encephalomyopathy. Am. J. Hum. Genet. 102, 460-467 (2018)
10.
Repp, B. et al.: Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? Orphanet J. Rare Dis. 13:120 (2018)
11.
Röeben, B.* et al.: SERAC1 deficiency causes complicated HSP: Evidence from a novel splice mutation in a large family. J. Med. Genet. 55, 39-47 (2018)
12.
Snijders Blok, L.* et al.: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat. Commun. 9:4619 (2018)
13.
Thiel, C.* et al.: Severe ichthyosis in MPDU1-CDG. J. Inherit. Metab. Dis. 41, 1293-1294 (2018)
14.
van Karnebeek, C.D.M.* et al.: The role of the clinician in the multi-omics era: Are you ready? J. Inherit. Metab. Dis. 41, 571-582 (2018)
15.
Wagner, M. et al.: Biallelic mutations in SLC1A2; an additional mode of inheritance for SLC1A2-related epilepsy. Neuropediatrics 49, 59-62 (2018)
16.
Distelmaier, F.* ; Haack, T.B. ; Wortmann, S.B. ; Mayr, J.A.* & Prokisch, H.: Treatable mitochondrial diseases: Cofactor metabolism and beyond. Brain 140:e11 (2017)
17.
Feichtinger, R.G.* et al.: Combined respiratory chain deficiency and UQCC2 mutations in neonatal encephalomyopathy: Defective supercomplex assembly in complex III deficiencies. Oxid. Med. Cell. Longev. 2017:7202589 (2017)
18.
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)
19.
Maas, R.R.* et al.: Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Ann. Neurol. 82, 1004-1015 (2017)
20.
Pronicka, E.* et al.: A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. J. Inherit. Metab. Dis. 40, 853-860 (2017)