Kreuz FR - Search Results

1

Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.

Dalski A, Atici J, Kreuz FR, Hellenbroich Y, Schwinger E, Zühlke C. Dalski A, et al. Among authors: kreuz fr. Eur J Hum Genet. 2005 Jan;13(1):118-20. doi: 10.1038/sj.ejhg.5201286. Eur J Hum Genet. 2005. PMID: 15470364

2

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.

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. Among authors: kreuz fr. 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

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.

5

SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene.

Riess O, Schöls L, Bottger H, Nolte D, Vieira-Saecker AM, Schimming C, Kreuz F, Macek M Jr, Krebsová A, Macek M Sen, Klockgether T, Zühlke C, Laccone FA. Riess O, et al. Hum Mol Genet. 1997 Aug;6(8):1289-93. doi: 10.1093/hmg/6.8.1289. Hum Mol Genet. 1997. PMID: 9259275

6

[Clinical details and genetics of recessive ataxias].

Zühlke C, Kreuz F, Bürk K. Zühlke C, et al. Nervenarzt. 2011 Apr;82(4):447-8, 450-8. doi: 10.1007/s00115-010-3079-4. Nervenarzt. 2011. PMID: 20640395 Review. German.

7

Linkage disequilibrium and haplotype analysis in German Friedreich ataxia families.

Zühlke C, Gehlken U, Purmann S, Kunisch M, Müller-Myhsok B, Kreuz F, Laccone F. Zühlke C, et al. Hum Hered. 1999 Mar;49(2):90-6. doi: 10.1159/000022851. Hum Hered. 1999. PMID: 10077729

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

SCA2 trinucleotide expansion in German SCA patients.

Riess O, Laccone FA, Gispert S, Schöls L, Zühlke C, Vieira-Saecker AM, Herlt S, Wessel K, Epplen JT, Weber BH, Kreuz F, Chahrokh-Zadeh S, Meindl A, Lunkes A, Aguiar J, Macek M Jr, Krebsová A, Macek M Sr, Bürk K, Tinschert S, Schreyer I, Pulst SM, Auburger G. Riess O, et al. Neurogenetics. 1997 May;1(1):59-64. doi: 10.1007/s100480050009. Neurogenetics. 1997. PMID: 10735276

10

The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia.

Bit-Avragim N, Perrot A, Schöls L, Hardt C, Kreuz FR, Zühlke C, Bubel S, Laccone F, Vogel HP, Dietz R, Osterziel KJ. Bit-Avragim N, et al. Among authors: kreuz fr. J Mol Med (Berl). 2001;78(11):626-32. doi: 10.1007/s001090000162. J Mol Med (Berl). 2001. PMID: 11269509

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