PuSH - Publication Server of Helmholtz Zentrum München

15 Records found.
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1.
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)
2.
Alhaddad, B.* et al.: PRUNE1 deficiency: Expanding the clinical and genetic spectrum. Neuropediatrics 49, 330-338 (2018)
3.
Danhauser, K. et al.: Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axaonal neuropathy. Am. J. Hum. Genet. 103, 817-825 (2018)
4.
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)
5.
Puusepp, S.* et al.: Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency. Eur. J. Hum. Genet. 26, 407-419 (2018)
6.
Wagner, M. et al.: Biallelic mutations in SLC1A2; an additional mode of inheritance for SLC1A2-related epilepsy. Neuropediatrics 49, 59-62 (2018)
7.
Westphal, D.S. et al.: A de novo missense variant in POU3F2 identified in a child with global developmental delay. Neuropediatrics 49, 401-404 (2018)
8.
Braunisch, M.C.* et al.: Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. Clin. Genet. 93, 255-265 (2017)
9.
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)
10.
Maas, R.R.* et al.: Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Ann. Neurol. 82, 1004-1015 (2017)
11.
Riedhammer, K.M.* et al.: Identification of a novel heterozygous de novo 7-bp frameshift deletion in PBX1 by whole-exome sequencing causing a multi-organ syndrome including bilateral dysplastic kidneys and hypoplastic clavicles. Front. Pediatr. 5:251 (2017)
12.
Rokicki, D.* et al.: 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. Clin. Chim. Acta 471, 95-100 (2017)
13.
Vill, K.* et al.: Early-onset myopathies: Clinical findings, prevalence of subgroups and diagnostic approach in a single neuromuscular referral center in Germany. J. Neuromuscul. Dis. 4, 315-325 (2017)
14.
Koch, J.* et al.: CAD mutations and uridine-responsive epileptic encephalopathy. Brain 140, 279-286 (2016)
15.
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)