Christine Zühlke

Summary

Country: Germany

Publications

  1. ncbi request reprint Homozygous myotonic dystrophy: clinical findings in two patients and review of the literature
    Christine Zühlke
    Institut fur Humangenetik, Universitatsklinikum Schleswig Holstein, Campus Lubeck, Germany
    Am J Med Genet A 143:2058-61. 2007
  2. ncbi request reprint Screening of the SPTBN2 (SCA5) gene in German SCA patients
    C Zuhlke
    Institut fur Humangenetik, Universitat Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Germany
    J Neurol 254:1649-52. 2007
  3. doi request reprint Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein
    Christine Zühlke
    Institute of Human Genetics, University of Lubeck, Lubeck, Germany
    Cerebellum 6:300-7. 2007
  4. ncbi request reprint [Genetics of oculocutaneous albinism]
    C Zuhlke
    Institut fur Humangenetik, Universitat Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Deutschland
    Ophthalmologe 104:674-80. 2007
  5. ncbi request reprint Investigation of recessive ataxia loci in patients with young age of onset
    C Zuhlke
    Institut fur Humangenetik, Universitat zu Lubeck, Lubeck, Germany
    Neuropediatrics 38:207-9. 2007
  6. doi request reprint [Clinical details and genetics of recessive ataxias]
    C Zuhlke
    Institut fur Humangenetik, Universitat zu Lubeck, Ratzeburger Allee 160, 23538, Lubeck
    Nervenarzt 82:447-8, 450-8. 2011
  7. ncbi request reprint Aprataxin mutations are a rare cause of early onset ataxia in Germany
    Matthias Habeck
    Institut fur Humangenetik, Universitat zu Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Germany
    J Neurol 251:591-4. 2004
  8. pmc Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes
    Christine Zühlke
    Institute of Human Genetics, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    BMC Med Genet 6:27. 2005
  9. ncbi request reprint Focal dystonia as a presenting sign of spinocerebellar ataxia 17
    Johann M Hagenah
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 19:217-20. 2004
  10. pmc Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation
    Ulf Edener
    Institute for Human Genetics, University of Luebeck, Ratzeburger Allee 160, Luebeck, Germany
    Eur J Hum Genet 18:965-8. 2010

Collaborators

Detail Information

Publications18

  1. ncbi request reprint Homozygous myotonic dystrophy: clinical findings in two patients and review of the literature
    Christine Zühlke
    Institut fur Humangenetik, Universitatsklinikum Schleswig Holstein, Campus Lubeck, Germany
    Am J Med Genet A 143:2058-61. 2007
  2. ncbi request reprint Screening of the SPTBN2 (SCA5) gene in German SCA patients
    C Zuhlke
    Institut fur Humangenetik, Universitat Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Germany
    J Neurol 254:1649-52. 2007
    ..Even though each variation marks a unique genotype in 250 alleles, a disease causing capacity can be excluded with high probability. These results reflect the challenges for molecular analyses in SCA5...
  3. doi request reprint Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein
    Christine Zühlke
    Institute of Human Genetics, University of Lubeck, Lubeck, Germany
    Cerebellum 6:300-7. 2007
    ..Alleles with 43 to 48 glutamine codons may be associated with incomplete penetrance. The mean age of onset is about 30 years for individuals with full-penetrance alleles, but ranges from three to 55 years...
  4. ncbi request reprint [Genetics of oculocutaneous albinism]
    C Zuhlke
    Institut fur Humangenetik, Universitat Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Deutschland
    Ophthalmologe 104:674-80. 2007
    ..The majority of German patients are affected by OCA 1 resulting from mutations in the gene for tyrosinase, the key enzyme in the synthesis of melanin pigment. Worldwide, OCA2 is the most frequent form of albinism...
  5. ncbi request reprint Investigation of recessive ataxia loci in patients with young age of onset
    C Zuhlke
    Institut fur Humangenetik, Universitat zu Lubeck, Lubeck, Germany
    Neuropediatrics 38:207-9. 2007
    ..The frequency of the mitochondrial recessive ataxia syndrome (MIRAS) and the infantile onset spinocerebellar ataxia (IOSCA) in this population remains unknown since no case with the common mutation of the corresponding gene was detected...
  6. doi request reprint [Clinical details and genetics of recessive ataxias]
    C Zuhlke
    Institut fur Humangenetik, Universitat zu Lubeck, Ratzeburger Allee 160, 23538, Lubeck
    Nervenarzt 82:447-8, 450-8. 2011
    ..Correct clinical and genetic diagnosis is necessary for prognosis, genetic counseling and pharmacological treatment. For the majority of ARCAs a curative treatment is not available...
  7. ncbi request reprint Aprataxin mutations are a rare cause of early onset ataxia in Germany
    Matthias Habeck
    Institut fur Humangenetik, Universitat zu Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Germany
    J Neurol 251:591-4. 2004
    ..Additionally, we describe several new transcript variants of the APTX gene and discuss their relevance for a sufficient mutation screening...
  8. pmc Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes
    Christine Zühlke
    Institute of Human Genetics, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    BMC Med Genet 6:27. 2005
    ..Reduced penetrance is known for Gln43-48 alleles. In the vast majority of families with SCA17 an expanded CAG repeat interrupted by a CAA CAG CAA element is inherited stably...
  9. ncbi request reprint Focal dystonia as a presenting sign of spinocerebellar ataxia 17
    Johann M Hagenah
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Mov Disord 19:217-20. 2004
    ..In conclusion, SCA17 mutations should be considered in the differential diagnosis of focal dystonia...
  10. pmc Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation
    Ulf Edener
    Institute for Human Genetics, University of Luebeck, Ratzeburger Allee 160, Luebeck, Germany
    Eur J Hum Genet 18:965-8. 2010
    ..This amino-acid exchange p.E700K was detected in a four-generation German family and was not observed in a survey of 400 chromosomes from healthy control individuals...
  11. ncbi request reprint No association of the SCA1 (CAG)31 allele with Huntington's disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3
    Yorck Hellenbroich
    Institute of Human Genetics, University of Lubeck, Germany
    Psychiatr Genet 14:61-3. 2004
    ..In none of these groups was a significant association with the 31 repeat allele found. Our findings do not support the hypothesis that this allele is involved in the etiology of trinucleotide expansion...
  12. doi request reprint Missense exchanges in the TTBK2 gene mutated in SCA11
    Ulf Edener
    Institut fur Humangenetik, Universitat zu Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    J Neurol 256:1856-9. 2009
    ..Although being unique in 98 alleles of ataxia patients, a disease causing effect can be excluded with high probability for both variations. This result demonstrates the challenges in diagnostic testing for SCA11...
  13. ncbi request reprint Phenotypical variability of expanded alleles in the TATA-binding protein gene. Reduced penetrance in SCA17?
    Christine Zühlke
    Institute of Human Genetics, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    J Neurol 250:161-3. 2003
    ..Apparently, the expanded allele does not cosegregate with the disease phenotype since the mother and two of the siblings do not show any clinical abnormality. This appears to be the first description of non-penetrance in SCA17...
  14. doi request reprint Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic
    Ulf Edener
    Institut fur Humangenetik, Universitat zu Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    J Neurol 258:1223-7. 2011
    ..However, our data impressively demonstrate the genetic instability in this chromosomal region...
  15. ncbi request reprint Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?
    Katja Hedrich
    Department of Human Genetics, University of Lubeck, Lubeck, Germany
    Mov Disord 20:1060-2. 2005
    ..Of note, 1 of the affected premutation carriers had a heterozygous Parkin mutation...
  16. ncbi request reprint Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles
    Christine Zühlke
    Institute of Human Genetics, University of Lubeck, Lubeck, Germany
    Eur J Hum Genet 10:204-9. 2002
    ..In contrast, the interrupted 39 trinucleotide-allele is not correlated with the SCA1 phenotype...
  17. pmc Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2
    Veronica Bernard
    Institut fur Humangenetik, Universitat zu Lubeck, Lubeck, Germany
    BMC Med Genet 10:87. 2009
    ..AOA2 is caused by mutations within the senataxin gene (SETX). The majority of known mutations are nonsense, missense, and splice site mutations, as well as small deletions and insertions...
  18. ncbi request reprint Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4
    Uta Rundshagen
    Institut für Humangenetik der Universität Lübeck, Lubeck, Germany
    Hum Mutat 23:106-10. 2004
    ..In this first report on West European patients, we describe 10 so far unpublished mutations, as well as two intronic variations, in addition to two known polymorphisms...