Zech M - Search Results

1

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.

Singh S, Gupta A, Zech M, Sigafoos AN, Clark KJ, Dincer Y, Wagner M, Humberson JB, Green S, van Gassen K, Brandt T, Schnur RE, Millan F, Si Y, Mall V, Winkelmann J, Gavrilova RH, Klee EW, Engleman K, Safina NP, Slaugh R, Bryant EM, Tan WH, Granadillo J, Misra SN, Schaefer GB, Towner S, Brilstra EH, Koeleman BPC. Singh S, et al. Among authors: zech m. Genet Med. 2020 Aug;22(8):1413-1417. doi: 10.1038/s41436-020-0815-4. Epub 2020 May 5. Genet Med. 2020. PMID: 32366965 Free PMC article.

2

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.

Zech M, Gross N, Jochim A, Castrop F, Kaffe M, Dresel C, Lichtner P, Peters A, Gieger C, Meitinger T, Haslinger B, Winkelmann J. Zech M, et al. Mov Disord. 2014 Jan;29(1):143-7. doi: 10.1002/mds.25715. Epub 2013 Oct 22. Mov Disord. 2014. PMID: 24151159

3

DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.

Zech M, Castrop F, Schormair B, Jochim A, Wieland T, Gross N, Lichtner P, Peters A, Gieger C, Meitinger T, Strom TM, Oexle K, Haslinger B, Winkelmann J. Zech M, et al. Mov Disord. 2014 Oct;29(12):1504-10. doi: 10.1002/mds.25981. Epub 2014 Aug 20. Mov Disord. 2014. PMID: 25142429

4

Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.

Zech M, Castrop F, Haslinger B, Winkelmann J. Zech M, et al. Mov Disord. 2015 May;30(6):878-9. doi: 10.1002/mds.26233. Epub 2015 Apr 25. Mov Disord. 2015. PMID: 25914261 No abstract available.

5

Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

Zech M, Lam DD, Francescatto L, Schormair B, Salminen AV, Jochim A, Wieland T, Lichtner P, Peters A, Gieger C, Lochmüller H, Strom TM, Haslinger B, Katsanis N, Winkelmann J. Zech M, et al. Am J Hum Genet. 2015 Jun 4;96(6):883-93. doi: 10.1016/j.ajhg.2015.04.010. Epub 2015 May 21. Am J Hum Genet. 2015. PMID: 26004199 Free PMC article.

6

Large-scale TUBB4A mutational screening in isolated dystonia and controls.

Zech M, Boesch S, Jochim A, Graf S, Lichtner P, Peters A, Gieger C, Mueller J, Poewe W, Haslinger B, Winkelmann J. Zech M, et al. Parkinsonism Relat Disord. 2015 Oct;21(10):1278-81. doi: 10.1016/j.parkreldis.2015.08.017. Epub 2015 Aug 20. Parkinsonism Relat Disord. 2015. PMID: 26318963

7

TOR1A, THAP1, and GNAL mutational screening in Austrian patients with primary isolated dystonia.

Zech M, Boesch S, Sycha T, Mueller J, Poewe W, Winkelmann J. Zech M, et al. Mov Disord. 2015 Nov;30(13):1853-4. doi: 10.1002/mds.26458. Epub 2015 Oct 28. Mov Disord. 2015. PMID: 26506956 No abstract available.

8

The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).

Jochim A, Zech M, Gora-Stahlberg G, Winkelmann J, Haslinger B. Jochim A, et al. Among authors: zech m. Mov Disord. 2016 May;31(5):747-50. doi: 10.1002/mds.26501. Epub 2015 Dec 21. Mov Disord. 2016. PMID: 26687111

9

Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls.

Zech M, Jochim A, Boesch S, Weber S, Meindl T, Peters A, Gieger C, Mueller J, Messner M, Ceballos-Baumann A, Poewe W, Haslinger B, Winkelmann J. Zech M, et al. Parkinsonism Relat Disord. 2016 Oct;31:119-123. doi: 10.1016/j.parkreldis.2016.07.013. Epub 2016 Jul 25. Parkinsonism Relat Disord. 2016. PMID: 27477622

10

Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.

Zech M, Boesch S, Jochim A, Weber S, Meindl T, Schormair B, Wieland T, Lunetta C, Sansone V, Messner M, Mueller J, Ceballos-Baumann A, Strom TM, Colombo R, Poewe W, Haslinger B, Winkelmann J. Zech M, et al. Mov Disord. 2017 Apr;32(4):549-559. doi: 10.1002/mds.26808. Epub 2016 Sep 26. Mov Disord. 2017. PMID: 27666935

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