Gillessen-Kaesbach G - Search Results

1

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.

Edener U, Wöllner J, Hehr U, Kohl Z, Schilling S, Kreuz F, Bauer P, Bernard V, Gillessen-Kaesbach G, Zühlke C. Edener U, et al. Eur J Hum Genet. 2010 Aug;18(8):965-8. doi: 10.1038/ejhg.2010.40. Epub 2010 Mar 31. Eur J Hum Genet. 2010. PMID: 20354562 Free PMC article.

2

Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic.

Edener U, Bernard V, Hellenbroich Y, Gillessen-Kaesbach G, Zühlke C. Edener U, et al. J Neurol. 2011 Jul;258(7):1223-7. doi: 10.1007/s00415-011-5905-4. Epub 2011 Jan 26. J Neurol. 2011. PMID: 21267591

3

A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.

Bürk K, Kaiser FJ, Tennstedt S, Schöls L, Kreuz FR, Wieland T, Strom TM, Büttner T, Hollstein R, Braunholz D, Plaschke J, Gillessen-Kaesbach G, Zühlke C. Bürk K, et al. Eur J Med Genet. 2014 Apr;57(5):207-11. doi: 10.1016/j.ejmg.2014.01.005. Epub 2014 Jan 29. Eur J Med Genet. 2014. PMID: 24486772

4

Screening of the SPTBN2 (SCA5) gene in German SCA patients.

Zühlke C, Bernard V, Dalski A, Lorenz P, Mitulla B, Gillessen-Kaesbach G, Bürk K. Zühlke C, et al. J Neurol. 2007 Dec;254(12):1649-52. doi: 10.1007/s00415-007-0600-1. Epub 2007 Oct 25. J Neurol. 2007. PMID: 17940722

5

Missense exchanges in the TTBK2 gene mutated in SCA11.

Edener U, Kurth I, Meiner A, Hoffmann F, Hübner CA, Bernard V, Gillessen-Kaesbach G, Zühlke C. Edener U, et al. J Neurol. 2009 Nov;256(11):1856-9. doi: 10.1007/s00415-009-5209-0. Epub 2009 Jun 17. J Neurol. 2009. PMID: 19533200

6

Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.

Zühlke C, Mikat B, Timmann D, Wieczorek D, Gillessen-Kaesbach G, Bürk K. Zühlke C, et al. Cerebellum Ataxias. 2015 Dec 16;2:19. doi: 10.1186/s40673-015-0038-7. eCollection 2015. Cerebellum Ataxias. 2015. PMID: 26677414 Free PMC article.

7

Investigation of recessive ataxia loci in patients with young age of onset.

Zühlke C, Bernard V, Gillessen-Kaesbach G. Zühlke C, et al. Neuropediatrics. 2007 Aug;38(4):207-9. doi: 10.1055/s-2007-990268. Neuropediatrics. 2007. PMID: 18058631

8

Ataxia with oculomotor apraxia type 2: novel mutations in six patients with juvenile age of onset and elevated serum alpha-fetoprotein.

Bernard V, Stricker S, Kreuz F, Minnerop M, Gillessen-Kaesbach G, Zühlke C. Bernard V, et al. Neuropediatrics. 2008 Dec;39(6):347-50. doi: 10.1055/s-0029-1214424. Epub 2009 Jun 30. Neuropediatrics. 2008. PMID: 19569000

9

Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.

Bernard V, Minnerop M, Bürk K, Kreuz F, Gillessen-Kaesbach G, Zühlke C. Bernard V, et al. BMC Med Genet. 2009 Sep 11;10:87. doi: 10.1186/1471-2350-10-87. BMC Med Genet. 2009. PMID: 19744353 Free PMC article.

10

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

Türkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D. Türkmen S, et al. Eur J Hum Genet. 2003 Nov;11(11):858-65. doi: 10.1038/sj.ejhg.5201050. Eur J Hum Genet. 2003. PMID: 14571271

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