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113 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.
Bruni, F.* et al.: Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. Hum. Mutat. 39, 563-578 (2018)
3.
Charif, M.* et al.: Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults. JAMA Neurol. 75, 105-113 (2018)
4.
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)
5.
Distelmaier, F.* et al.: Blue diaper syndrome and PCSK1 mutations. Pediatrics 141, 5, S501-S505 (2018)
6.
Iuso, A. et al.: Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy. Am. J. Hum. Genet. 102, 1018-1030 (2018)
7.
Lenz, D.* et al.: SCYL1 variants cause a syndrome with low gamma-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). Genet. Med. 20, 1255-1265 (2018)
8.
Lessel, D.* et al.: BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain 141, 2299-2311 (2018)
9.
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)
10.
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)
11.
Ait-El-Mkadem, S.* et al.: Mutations in MDH2, encoding a Krebs cycle enzyme, cause early-onset severe encephalopathy. Am. J. Hum. Genet. 100, 151-159 (2017)
12.
Anikster, Y.* et al.: Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability. Am. J. Hum. Genet. 100, 257-266 (2017)
13.
Baertling, F.* et al.: Neonatal encephalocardiomyopathy caused by mutations in VARS2. Metab. Brain Dis. 32, 267-270 (2017)
14.
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)
15.
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)
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.
Habarou, F.* et al.: Biallelic mutations in LIPT2 cause a mitochondrial lipoylation defect associated with severe neonatal encephalopathy. Am. J. Hum. Genet. 101, 283-290 (2017)
19.
Hempel, M.* et al.: LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study. Mitochondrion 37, 55-61 (2017)
20.
Herebian, D.* et al.: Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities. Eur. J. Hum. Genet. 25, 1092-1095 (2017)