Schwinger E - Search Results

1

R124C mutation of the betaIGH3 gene leads to remarkable phenotypic variability in a Greek four-generation family with lattice corneal dystrophy type 1.

Hellenbroich Y, Tzivras G, Neppert B, Schwinger E, Zühlke C. Hellenbroich Y, et al. Among authors: schwinger e. Ophthalmologica. 2001 Nov-Dec;215(6):444-7. doi: 10.1159/000050906. Ophthalmologica. 2001. PMID: 11741113

2

Aprataxin mutations are a rare cause of early onset ataxia in Germany.

Habeck M, Zühlke C, Bentele KH, Unkelbach S, Kress W, Bürk K, Schwinger E, Hellenbroich Y. Habeck M, et al. Among authors: schwinger e. J Neurol. 2004 May;251(5):591-4. doi: 10.1007/s00415-004-0374-7. J Neurol. 2004. PMID: 15164193

3

Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes.

Hellenbroich Y, Schwinger E, Zühlke C. Hellenbroich Y, et al. Among authors: schwinger e. Acta Neurol Scand. 2001 Mar;103(3):188-92. doi: 10.1034/j.1600-0404.2001.103003188.x. Acta Neurol Scand. 2001. PMID: 11240567

4

Genomic organization of the human NFAT5 gene: exon-intron structure of the 14-kb transcript and CpG-island analysis of the promoter region.

Dalski A, Schwinger E, Zühlke C. Dalski A, et al. Among authors: schwinger e. Cytogenet Cell Genet. 2001;93(3-4):239-41. doi: 10.1159/000056990. Cytogenet Cell Genet. 2001. PMID: 11528118

5

Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.

Hellenbroich Y, Bubel S, Pawlack H, Opitz S, Vieregge P, Schwinger E, Zühlke C. Hellenbroich Y, et al. Among authors: schwinger e. J Neurol. 2003 Jun;250(6):668-71. doi: 10.1007/s00415-003-1052-x. J Neurol. 2003. PMID: 12796826

6

Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.

Zühlke CH, Dalski A, Habeck M, Straube K, Hedrich K, Hoeltzenbein M, Konstanzer A, Hellenbroich Y, Schwinger E. Zühlke CH, et al. Among authors: schwinger e. Eur J Hum Genet. 2004 Nov;12(11):979-82. doi: 10.1038/sj.ejhg.5201257. Eur J Hum Genet. 2004. PMID: 15340363

7

Spinocerebellar ataxia type 4. Investigation of 34 candidate genes.

Hellenbroich Y, Pawlack H, Rüb U, Schwinger E, Zühlke Ch. Hellenbroich Y, et al. Among authors: schwinger e. J Neurol. 2005 Dec;252(12):1472-5. doi: 10.1007/s00415-005-0892-y. Epub 2005 Jul 7. J Neurol. 2005. PMID: 15999233

8

Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism.

Opitz S, Käsmann-Kellner B, Kaufmann M, Schwinger E, Zühlke C. Opitz S, et al. Among authors: schwinger e. Hum Mutat. 2004 Jun;23(6):630-1. doi: 10.1002/humu.9248. Hum Mutat. 2004. PMID: 15146472

9

No association of the SCA1 (CAG)31 allele with Huntington's disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3.

Hellenbroich Y, Kaulich M, Opitz S, Schwinger E, Zühlke C. Hellenbroich Y, et al. Among authors: schwinger e. Psychiatr Genet. 2004 Jun;14(2):61-3. doi: 10.1097/01.ypg.0000128763.69225.77. Psychiatr Genet. 2004. PMID: 15167689

10

CAG repeat analyses in frozen and formalin-fixed tissues following primer extension preamplification for evaluation of mitotic instability of expanded SCA1 alleles.

Zühlke C, Hellenbroich Y, Schaaff F, Gehlken U, Wessel K, Schubert T, Cervos-Navarro J, Pickartz H, Schwinger E. Zühlke C, et al. Among authors: schwinger e. Hum Genet. 1997 Sep;100(3-4):339-44. doi: 10.1007/s004390050513. Hum Genet. 1997. PMID: 9272152

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