PuSH - Publication Server of Helmholtz Zentrum München

21 Records found.
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1.
Jochim, A.* et al.: Treatment of cervical dystonia with abo- and onabotulinumtoxinA: Long-term safety and efficacy in daily clinical practice. J. Neurol., accepted (2019)
2.
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)
3.
Zech, M. ; Wagner, M. ; Schormair, B. ; Oexle, K. & Winkelmann, J.: Exomdiagnostik in der Neurologie. Nervenarzt 90, 131-137 (2019)
4.
Barbagiovanni, G.* et al.: KMT2B is selectively required for neuronal transdifferentiation and its loss exposes dystonia candidate genes. Cell Rep. 25, 988-1001 (2018)
5.
Jochim, A.* et al.: Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia). Parkinsonism Relat. Disord. 46, 74-78 (2018)
6.
Necpál, J.* et al.: Ataxia telangiectasia gene mutation in isolated segmental dystonia without ataxia and telangiectasia. Mov. Disord. Clin. Pract. 5, 89-91 (2018)
7.
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)
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.
Jochim, A.* ; Zech, M. ; Gora-Stahlberg, G.* ; Winkelmann, J. & Haslinger, B.*: The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27). Mov. Disord. 31, 747-750 (2016)
12.
Zech, M. et al.: Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls. Parkinsonism Relat. Disord. 31, 119-123 (2016)
13.
Zech, M. et al.: Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up. Mov. Disord. 32, 549-559 (2016)
14.
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)
15.
Zech, M. ; Castrop, F.* ; Haslinger, B.* & Winkelmann, J.: Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia. Mov. Disord. 30, 878–879 (2015)
16.
Zech, M. et al.: Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. Am. J. Hum. Genet. 96, 883-893 (2015)
17.
Zech, M. et al.: Large-scale TUBB4A mutational screening in isolated dystonia and controls. Parkinsonism Relat. Disord. 21, 1278-1281 (2015)
18.
Zech, M. et al.: TOR1A, THAP1, and GNAL mutational screening in Austrian patients with primary isolated dystonia. Mov. Disord. 30, 1853–1854 (2015)
19.
Zech, M. et al.: Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls. Mov. Disord. 29, 143-147 (2014)
20.
Zech, M. et al.: DYT16 revisited: Exome sequencing identifies PRKRA mutations in a European dystonia family. Mov. Disord. 29, 1504-1510 (2014)