U Finckh

Summary

Affiliation: University of Hamburg
Country: Germany

Publications

  1. ncbi The future of genetic association studies in Alzheimer disease
    U Finckh
    Institute of Human Genetics, University Hospital Hamburg Eppendorf, University of Hamburg, Federal Republic of Germany
    J Neural Transm 110:253-66. 2003
  2. ncbi Novel mutations and repeated findings of mutations in familial Alzheimer disease
    Ulrich Finckh
    Institute of Human Genetics, University Hospital Hamburg Eppendorf, University of Hamburg, Butenfeld 42, 22529 Hamburg, Germany
    Neurogenetics 6:85-9. 2005
  3. ncbi Association of late-onset Alzheimer disease with a genotype of PLAU, the gene encoding urokinase-type plasminogen activator on chromosome 10q22.2
    U Finckh
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Neurogenetics 4:213-7. 2003
  4. ncbi Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I
    U Finckh
    Department of Human Genetics, University Hospital Eppendorf, Hamburg, Germany
    Neurology 54:2006-8. 2000
  5. pmc High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes
    U Finckh
    Department of Human Genetics, University Hospital Eppendorf, University of Hamburg, Germany
    Am J Hum Genet 66:110-7. 2000
  6. ncbi Non-replication of association between cathepsin D genotype and late onset Alzheimer disease
    G Menzer
    Department of Human Genetics, University Hospital Hamburg Eppendorf, Germany
    Am J Med Genet 105:179-82. 2001
  7. ncbi Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3
    U Finckh
    Institut fur Humangenetik, Universitats Krankenhaus Eppendorf, Hamburg, Germany
    Genomics 48:341-5. 1998
  8. ncbi Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease
    U Finckh
    Department of Human Genetics, University Hospital Eppendorf, University of Hamburg, Hamburg, Germany
    Am J Med Genet 92:40-6. 2000
  9. ncbi CSF-tau, CSF-Abeta1-42, ApoE-genotype and clinical parameters in the diagnosis of Alzheimer's disease: combination of CSF-tau and MMSE yields highest sensitivity and specificity
    S Ganzer
    Department of Psychiatry and Psychotherapy, University Hospital Hamburg Eppendorf, Hamburg, Germany
    J Neural Transm 110:1149-60. 2003
  10. ncbi Molecular genetic alterations on chromosomes 11 and 22 in ependymomas
    K Lamszus
    Department of Neuropathology, University Hospital Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany
    Int J Cancer 91:803-8. 2001

Detail Information

Publications16

  1. ncbi The future of genetic association studies in Alzheimer disease
    U Finckh
    Institute of Human Genetics, University Hospital Hamburg Eppendorf, University of Hamburg, Federal Republic of Germany
    J Neural Transm 110:253-66. 2003
    ..This review briefly discusses possible reasons for this lack of success and proposes criteria for a more efficient selection of positional and functional candidate genes for LOAD...
  2. ncbi Novel mutations and repeated findings of mutations in familial Alzheimer disease
    Ulrich Finckh
    Institute of Human Genetics, University Hospital Hamburg Eppendorf, University of Hamburg, Butenfeld 42, 22529 Hamburg, Germany
    Neurogenetics 6:85-9. 2005
    ..Whereas our findings suggest the possibility of single founders for the majority of mutations, we found evidence of recurrence of the APP mutations V717L and V717I...
  3. ncbi Association of late-onset Alzheimer disease with a genotype of PLAU, the gene encoding urokinase-type plasminogen activator on chromosome 10q22.2
    U Finckh
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Neurogenetics 4:213-7. 2003
    ..Odds ratio for LOAD due to homozygosity C/C was 1.89 (95% confidence interval 1.37-2.61). PLAU is a promising new candidate gene for LOAD, with allele C (P141) being a recessive risk allele or allele T (L141) conferring protection...
  4. ncbi Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I
    U Finckh
    Department of Human Genetics, University Hospital Eppendorf, Hamburg, Germany
    Neurology 54:2006-8. 2000
    ..The data showed no influence of APOE but were compatible with other possible genetic modifiers of the phenotype or penetrance of M239I...
  5. pmc High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes
    U Finckh
    Department of Human Genetics, University Hospital Eppendorf, University of Hamburg, Germany
    Am J Hum Genet 66:110-7. 2000
    ..We conclude that because of the lack of specific antemortem diagnostic markers for FAD and hereditary prion disease, all four genes should be included in a molecular diagnostic program in patients with EOD who had PFH...
  6. ncbi Non-replication of association between cathepsin D genotype and late onset Alzheimer disease
    G Menzer
    Department of Human Genetics, University Hospital Hamburg Eppendorf, Germany
    Am J Med Genet 105:179-82. 2001
    ..Post hoc data analyses suggested that there might be a stronger effect of CTSD genotype on AD risk in males, and an interaction between CTSD and APOE genotypes in males but not females...
  7. ncbi Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3
    U Finckh
    Institut fur Humangenetik, Universitats Krankenhaus Eppendorf, Hamburg, Germany
    Genomics 48:341-5. 1998
    ..No mutation has been found by direct sequencing in the gene (CRYM) encoding micron crystallin, which maps in the critical region...
  8. ncbi Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease
    U Finckh
    Department of Human Genetics, University Hospital Eppendorf, University of Hamburg, Hamburg, Germany
    Am J Med Genet 92:40-6. 2000
    ..7% detection rate). Our data suggest a higher than previously assumed contribution of L1CAM mutations in the pathogenesis of the heterogeneous group of congenital hydrocephalus...
  9. ncbi CSF-tau, CSF-Abeta1-42, ApoE-genotype and clinical parameters in the diagnosis of Alzheimer's disease: combination of CSF-tau and MMSE yields highest sensitivity and specificity
    S Ganzer
    Department of Psychiatry and Psychotherapy, University Hospital Hamburg Eppendorf, Hamburg, Germany
    J Neural Transm 110:1149-60. 2003
    ..CSF-Abeta1-42 showed no additional benefit in discriminating patients from controls but might be useful for tracking the severity of the disease...
  10. ncbi Molecular genetic alterations on chromosomes 11 and 22 in ependymomas
    K Lamszus
    Department of Neuropathology, University Hospital Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany
    Int J Cancer 91:803-8. 2001
    ..To conclude, our findings provide evidence for different genetic pathways involved in ependymoma formation and progression, which may allow to define genetically and clinically distinct tumor entities...
  11. ncbi Influence of the dopamine D2 receptor (DRD2) genotype on neuroadaptive effects of alcohol and the clinical outcome of alcoholism
    U Finckh
    Working group for Molecular Neurobiology, Institute of Neuropsychopharmacology, Free University Berlin, Germany
    Pharmacogenetics 7:271-81. 1997
    ..The findings suggest an influence of the DRD2 genotype on the neuropharmacological effects of chronic alcohol exposure and the clinical course of alcoholism...
  12. ncbi Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1
    U Finckh
    Department of Human Genetics, University Hospital Eppendorf, University of Hamburg, Germany
    Hum Mutat 12:206-11. 1998
    ....
  13. ncbi Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
    S M Gu
    Institut fur Humangenetik, Universitats Krankenhaus Eppendorf, Hamburg, Germany
    Nat Genet 17:194-7. 1997
    ....
  14. ncbi Isolation of canine retinal arrestin cDNA and exclusion of three candidate genes for Swedish Briard retinal dystrophy
    A Veske
    Institut fur Humangenetik, Universitats Krankenhaus Eppendorf, Hamburg, Germany
    Curr Eye Res 16:270-4. 1997
    ..We are performing a systematic analysis of canine candidate genes for such diseases to identify the one mutated in the retinal dystrophy in Swedish Briard dogs...
  15. ncbi Genetic association of a cystatin C gene polymorphism with late-onset Alzheimer disease
    U Finckh
    Division of Psychiatry Research, University of Zurich, August Forel Str 1, 8008 Zurich, Switzerland
    Arch Neurol 57:1579-83. 2000
    ..To determine whether the cystatin C gene (CST3) is genetically associated with late-onset Alzheimer disease (AD)...
  16. ncbi Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease
    P J Seeman
    AG Molekulare Neurobiologie, Freie Universitat Berlin, Germany
    Neurology 46:1102-7. 1996
    ..Until we have precise information about the frequency and distribution of single-point mutations in patients with Gaucher disease, it is necessary to analyze the complete glucocerebrosidase gene...