PuSH - Publication Server of Helmholtz Zentrum München

6 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.
Barbagiovanni, G.* et al.: KMT2B is selectively required for neuronal transdifferentiation and its loss exposes dystonia candidate genes. Cell Rep. 25, 988-1001 (2018)
3.
Necpál, J.* et al.: Ataxia telangiectasia gene mutation in isolated segmental dystonia without ataxia and telangiectasia. Mov. Disord. Clin. Pract. 5, 89-91 (2018)
4.
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)
5.
Zech, M. et al.: KMT2B rare missense variants in generalized dystonia. Mov. Disord. 32, 1087-1091 (2017)
6.
Zech, M. et al.: Molecular diversity of combined and complex dystonia: Insights from diagnostic exome sequencing. Neurogenetics 18, 195–205 (2017)