PuSH - Publication Server of Helmholtz Zentrum München

14 Records found.
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1.
Khan, K.* et al.: Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. Genet. Med., accepted (2019)
2.
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)
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.
Iuso, A. et al.: Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy. Am. J. Hum. Genet. 102, 1018-1030 (2018)
5.
Zech, M. et al.: A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder. Cold Spring Harb. Mol. Case Stud. 4, accepted (2018)
6.
Anikster, Y.* et al.: Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability. Am. J. Hum. Genet. 100, 257-266 (2017)
7.
Schormair, B. et al.: Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease. Clin. Genet. 93, 603-612 (2017)
8.
Zech, M. et al.: KMT2B rare missense variants in generalized dystonia. Mov. Disord. 32, 1087-1091 (2017)
9.
Zech, M. et al.: Molecular diversity of combined and complex dystonia: Insights from diagnostic exome sequencing. Neurogenetics 18, 195–205 (2017)
10.
Zech, M. et al.: SOX5-null heterozygous mutation in a family with adult-onset hyperkinesia and behavioral abnormalities. Case Rep. Genet. 2017:2721615 (2017)
11.
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)
12.
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)
13.
Zech, M. et al.: Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2B, results in early-onset generalized dystonia. Am. J. Hum. Genet. 99, 1377-1387 (2016)
14.
Francalacci, P.* et al.: Detection of phylogenetically informative polymorphisms in the entire euchromatic portion of human Y chromosome from a Sardinian sample. BMC Res. Notes 8:177 (2015)