Gillessen-Kaesbach G - Search Results

1

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

2

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

3

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.

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

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

7

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.

8

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

9

Homozygous myotonic dystrophy: clinical findings in two patients and review of the literature.

Zühlke C, Roeder E, Purmann S, Wieczorek D, Curry C, Loustalet C, Hellenbroich Y, Richardt HH, Gillessen-Kaesbach G. Zühlke C, et al. Am J Med Genet A. 2007 Sep 1;143A(17):2058-61. doi: 10.1002/ajmg.a.31772. Am J Med Genet A. 2007. PMID: 17663477 Review. No abstract available.

10

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.

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