Grundmann K - Search Results

1

Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients.

Palada V, Stiern S, Glöckle N, Gómez-Garre P, Carrillo F, Mir P, Szczaluba K, Tinazzi M, Ajena D, Romani M, Valente EM, Müller U, Bauer P, Riess O, Ott T, Grundmann K. Palada V, et al. Among authors: grundmann k. Mov Disord. 2012 Jun;27(7):917. doi: 10.1002/mds.24974. Epub 2012 Apr 16. Mov Disord. 2012. PMID: 22508326 No abstract available.

2

Prevalence of THAP1 sequence variants in German patients with primary dystonia.

Söhn AS, Glöckle N, Doetzer AD, Deuschl G, Felbor U, Topka HR, Schöls L, Riess O, Bauer P, Müller U, Grundmann K. Söhn AS, et al. Among authors: grundmann k. Mov Disord. 2010 Sep 15;25(12):1982-6. doi: 10.1002/mds.23207. Mov Disord. 2010. PMID: 20669277

3

Screening of mutations in GNAL in sporadic dystonia patients.

Dufke C, Sturm M, Schroeder C, Moll S, Ott T, Riess O, Bauer P, Grundmann K. Dufke C, et al. Among authors: grundmann k. Mov Disord. 2014 Aug;29(9):1193-6. doi: 10.1002/mds.25794. Epub 2014 Jan 9. Mov Disord. 2014. PMID: 24408567

4

Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia.

Cheng FB, Feng JC, Ma LY, Miao J, Ott T, Wan XH, Grundmann K. Cheng FB, et al. Among authors: grundmann k. Mov Disord. 2014 Jul;29(8):1079-83. doi: 10.1002/mds.25921. Epub 2014 May 23. Mov Disord. 2014. PMID: 24862462

5

Mutations in CIZ1 are not a major cause for dystonia in Germany.

Dufke C, Hauser AK, Sturm M, Fluhr S, Wächter T, Leube B, Auburger G, Ott T, Bauer P, Gasser T, Grundmann K. Dufke C, et al. Among authors: grundmann k. Mov Disord. 2015 Apr 15;30(5):740-3. doi: 10.1002/mds.26198. Epub 2015 Mar 17. Mov Disord. 2015. PMID: 25778706 No abstract available.

6

Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias.

Grundmann K, Laubis-Herrmann U, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, Schulte T, Schöls L, Topka H, Riess O. Grundmann K, et al. Mov Disord. 2004 Nov;19(11):1294-7. doi: 10.1002/mds.20128. Mov Disord. 2004. PMID: 15390016

7

Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia.

Walter M, Bonin M, Pullman RS, Valente EM, Loi M, Gambarin M, Raymond D, Tinazzi M, Kamm C, Glöckle N, Poths S, Gasser T, Bressman SB, Klein C, Ozelius LJ, Riess O, Grundmann K. Walter M, et al. Among authors: grundmann k. Neurobiol Dis. 2010 May;38(2):192-200. doi: 10.1016/j.nbd.2009.12.019. Epub 2010 Jan 4. Neurobiol Dis. 2010. PMID: 20053375

8

Generation of a novel rodent model for DYT1 dystonia.

Grundmann K, Glöckle N, Martella G, Sciamanna G, Hauser TK, Yu L, Castaneda S, Pichler B, Fehrenbacher B, Schaller M, Nuscher B, Haass C, Hettich J, Yue Z, Nguyen HP, Pisani A, Riess O, Ott T. Grundmann K, et al. Neurobiol Dis. 2012 Jul;47(1):61-74. doi: 10.1016/j.nbd.2012.03.024. Epub 2012 Mar 26. Neurobiol Dis. 2012. PMID: 22472189

9

Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).

Zirn B, Grundmann K, Huppke P, Puthenparampil J, Wolburg H, Riess O, Müller U. Zirn B, et al. Among authors: grundmann k. J Neurol Neurosurg Psychiatry. 2008 Dec;79(12):1327-30. doi: 10.1136/jnnp.2008.148270. Epub 2008 May 13. J Neurol Neurosurg Psychiatry. 2008. PMID: 18477710

10

Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.

Grundmann K, Laubis-Herrmann U, Bauer I, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, Schulte T, Schöls L, Topka H, Riess O. Grundmann K, et al. Arch Neurol. 2003 Sep;60(9):1266-70. doi: 10.1001/archneur.60.9.1266. Arch Neurol. 2003. PMID: 12975293

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

36 results

Search Page

Filters