Grundmann K - Search Results

1

Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.

Pogoda M, Hilke FJ, Lohmann E, Sturm M, Lenz F, Matthes J, Muyas F, Ossowski S, Hoischen A, Faust U, Sepahi I, Casadei N, Poths S, Riess O, Schroeder C, Grundmann K. Pogoda M, et al. Among authors: grundmann k. Front Neurol. 2019 Dec 18;10:1332. doi: 10.3389/fneur.2019.01332. eCollection 2019. Front Neurol. 2019. PMID: 31920950 Free PMC article.

2

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

3

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

4

Mutation at the SCA17 locus is not a common cause of primary dystonia.

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. J Neurol. 2004 Oct;251(10):1232-4. doi: 10.1007/s00415-004-0520-2. J Neurol. 2004. PMID: 15503103

5

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

6

Adult neural precursor cells unaffected in animal models of DYT1 dystonia.

Regensburger M, Kohl Z, Grundmann K, Winner B, Riess O, Winkler J. Regensburger M, et al. Among authors: grundmann k. Neuroreport. 2009 Nov 25;20(17):1529-33. doi: 10.1097/WNR.0b013e328331c761. Neuroreport. 2009. PMID: 19829161

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

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

9

Gene expression changes in a transgenic mouse model overexpressing human wildtype and mutant torsinA.

Grundmann K, Hübener J, Häbig K, Reischmann B, Poths S, Hauser TK, Magg J, Riess O, Bonin M, Nguyen HP. Grundmann K, et al. Proteomics Clin Appl. 2008 May;2(5):720-36. doi: 10.1002/prca.200780053. Proteomics Clin Appl. 2008. PMID: 21136869

10

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

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