Kreuz F - Search Results

1

Novel twelve-generation kindred of fatal familial insomnia from germany representing the entire spectrum of disease expression.

Harder A, Jendroska K, Kreuz F, Wirth T, Schafranka C, Karnatz N, Théallier-Janko A, Dreier J, Lohan K, Emmerich D, Cervós-Navarro J, Windl O, Kretzschmar HA, Nürnberg P, Witkowski R. Harder A, et al. Among authors: kreuz f. Am J Med Genet. 1999 Dec 3;87(4):311-6. doi: 10.1002/(sici)1096-8628(19991203)87:4<311::aid-ajmg6>3.0.co;2-5. Am J Med Genet. 1999. PMID: 10588836

2

Early age of onset in fatal familial insomnia. Two novel cases and review of the literature.

Harder A, Gregor A, Wirth T, Kreuz F, Schulz-Schaeffer WJ, Windl O, Plotkin M, Amthauer H, Neukirch K, Kretzschmar HA, Kuhlmann T, Braas R, Hahne HH, Jendroska K. Harder A, et al. Among authors: kreuz f. J Neurol. 2004 Jun;251(6):715-24. doi: 10.1007/s00415-004-0409-0. J Neurol. 2004. PMID: 15311348

3

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. Among authors: kreuz fr. Eur J Hum Genet. 2003 Nov;11(11):858-65. doi: 10.1038/sj.ejhg.5201050. Eur J Hum Genet. 2003. PMID: 14571271

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. Among authors: kreuz f. 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

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

6

Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity.

Gispert S, Santos N, Damen R, Voit T, Schulz J, Klockgether T, Orozco G, Kreuz F, Weissenbach J, Auburger G. Gispert S, et al. Among authors: kreuz f. Am J Hum Genet. 1995 Jan;56(1):183-7. Am J Hum Genet. 1995. PMID: 7825576 Free PMC article.

7

Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease.

Metzger S, Bauer P, Tomiuk J, Laccone F, Didonato S, Gellera C, Mariotti C, Lange HW, Weirich-Schwaiger H, Wenning GK, Seppi K, Melegh B, Havasi V, Balikó L, Wieczorek S, Zaremba J, Hoffman-Zacharska D, Sulek A, Basak AN, Soydan E, Zidovska J, Kebrdlova V, Pandolfo M, Ribaï P, Kadasi L, Kvasnicova M, Weber BH, Kreuz F, Dose M, Stuhrmann M, Riess O. Metzger S, et al. Among authors: kreuz f. Hum Genet. 2006 Sep;120(2):285-92. doi: 10.1007/s00439-006-0221-2. Epub 2006 Jul 18. Hum Genet. 2006. PMID: 16847693

8

Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.

Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, Moore KJ, Barbosa E, Falik-Borenstein T, Filipovich A, Ishida Y, Kivrikko S, Klein C, Kreuz F, Levin A, Miyajima H, Regueiro JR, Russo C, Uyama E, Vierimaa O, Spritz RA. Karim MA, et al. Among authors: kreuz f. Am J Med Genet. 2002 Feb 15;108(1):16-22. Am J Med Genet. 2002. PMID: 11857544

9

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. Among authors: kreuz f. Neuropediatrics. 2008 Dec;39(6):347-50. doi: 10.1055/s-0029-1214424. Epub 2009 Jun 30. Neuropediatrics. 2008. PMID: 19569000

10

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. Among authors: kreuz f. 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.

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