Hellenbroich Y - Search Results

1

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. Among authors: hellenbroich y. 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.

2

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: hellenbroich y. Hum Genet. 1997 Sep;100(3-4):339-44. doi: 10.1007/s004390050513. Hum Genet. 1997. PMID: 9272152

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. 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

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.

Zühlke C, Hellenbroich Y, Dalski A, Kononowa N, Hagenah J, Vieregge P, Riess O, Klein C, Schwinger E. Zühlke C, et al. Among authors: hellenbroich y. Eur J Hum Genet. 2001 Mar;9(3):160-4. doi: 10.1038/sj.ejhg.5200617. Eur J Hum Genet. 2001. PMID: 11313753

5

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. Ophthalmologica. 2001 Nov-Dec;215(6):444-7. doi: 10.1159/000050906. Ophthalmologica. 2001. PMID: 11741113

6

Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles.

Zühlke C, Dalski A, Hellenbroich Y, Bubel S, Schwinger E, Bürk K. Zühlke C, et al. Among authors: hellenbroich y. Eur J Hum Genet. 2002 Mar;10(3):204-9. doi: 10.1038/sj.ejhg.5200788. Eur J Hum Genet. 2002. PMID: 11973625

7

Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?

Zühlke C, Gehlken U, Hellenbroich Y, Schwinger E, Bürk K. Zühlke C, et al. Among authors: hellenbroich y. J Neurol. 2003 Feb;250(2):161-3. doi: 10.1007/s00415-003-0958-7. J Neurol. 2003. PMID: 12574945

8

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. J Neurol. 2003 Jun;250(6):668-71. doi: 10.1007/s00415-003-1052-x. J Neurol. 2003. PMID: 12796826

9

Focal dystonia as a presenting sign of spinocerebellar ataxia 17.

Hagenah JM, Zühlke C, Hellenbroich Y, Heide W, Klein C. Hagenah JM, et al. Among authors: hellenbroich y. Mov Disord. 2004 Feb;19(2):217-20. doi: 10.1002/mds.10600. Mov Disord. 2004. PMID: 14978680

10

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: hellenbroich y. J Neurol. 2004 May;251(5):591-4. doi: 10.1007/s00415-004-0374-7. J Neurol. 2004. PMID: 15164193

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