O Riess

Summary

Country: Germany

Publications

  1. ncbi request reprint SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene
    O Riess
    Molecular Human Genetics, Ruhr University, Bochum, Germany
    Hum Mol Genet 6:1289-93. 1997
  2. ncbi request reprint Characterization of the rat spinocerebellar ataxia type 3 gene
    I Schmitt
    Molecular Human Genetics, Ruhr University, Germany
    Neurogenetics 1:103-12. 1997
  3. pmc Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds
    L Schols
    Department of Neurology, St Josef Hospital, Ruhr University, Bochum, Germany
    J Neurol Neurosurg Psychiatry 64:67-73. 1998
  4. ncbi request reprint Evaluation of the gamma-synuclein gene in German Parkinson's disease patients
    R Kruger
    Department of Neurology, Ruhr University, St Josef Hospital, Bochum, Germany
    Neurosci Lett 310:191-3. 2001
  5. ncbi request reprint Genetic background of apparently idiopathic sporadic cerebellar ataxia
    L Schols
    Neurologische Klinik der Ruhr Universität, St Josef Hospital, Bochum, Germany
    Hum Genet 107:132-7. 2000
  6. ncbi request reprint cDNA cloning and expression of rsca1, the rat counterpart of the human spinocerebellar ataxia type 1 gene
    M Gossen
    Molecular Human Genetics, Ruhr University, Bochum, Germany
    Hum Mol Genet 5:381-9. 1996
  7. ncbi request reprint Modulation of disease risk according to a cathepsin D / apolipoprotein E genotype in Parkinson's disease
    T Schulte
    Department of Molecular Human Genetics, Ruhr University, Bochum, Germany
    J Neural Transm 110:749-55. 2003
  8. ncbi request reprint SCA2 trinucleotide expansion in German SCA patients
    O Riess
    Molecular Human Genetics, Ruhr University, Bochum, Germany
    Neurogenetics 1:59-64. 1997
  9. ncbi request reprint Predominant neuronal expression of the gene responsible for dentatorubral-pallidoluysian atrophy (DRPLA) in rat
    I Schmitt
    Ruhr University, Bochum, Germany
    Hum Mol Genet 4:1619-24. 1995
  10. ncbi request reprint Involvement of alpha-synuclein in Parkinson's disease and other neurodegenerative disorders
    R Kruger
    Department of Neurology, St Josef Hospital, Ruhr University, Bochum, Federal Republic of Germany
    J Neural Transm 107:31-40. 2000

Collaborators

Detail Information

Publications40

  1. ncbi request reprint SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene
    O Riess
    Molecular Human Genetics, Ruhr University, Bochum, Germany
    Hum Mol Genet 6:1289-93. 1997
    ..Most importantly, the trinucleotide expansion was observed in four ataxia patients without obvious family history of the disease which necessitates a search for the SCA6 (CAG)n expansion even in sporadic patients...
  2. ncbi request reprint Characterization of the rat spinocerebellar ataxia type 3 gene
    I Schmitt
    Molecular Human Genetics, Ruhr University, Germany
    Neurogenetics 1:103-12. 1997
    ..Thus additional molecules and/or regulatory events are necessary to explain the exclusive degeneration of certain brain areas...
  3. pmc Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds
    L Schols
    Department of Neurology, St Josef Hospital, Ruhr University, Bochum, Germany
    J Neurol Neurosurg Psychiatry 64:67-73. 1998
    ..The aim was to further characterise the SCA6 phenotype..
  4. ncbi request reprint Evaluation of the gamma-synuclein gene in German Parkinson's disease patients
    R Kruger
    Department of Neurology, Ruhr University, St Josef Hospital, Bochum, Germany
    Neurosci Lett 310:191-3. 2001
    ..In addition no evidence for an increased risk of combined genotypes of polymorphisms in the gamma-synuclein and the alpha-synuclein gene was found. Therefore, our results do not support a major role of the gamma-synuclein gene in PD...
  5. ncbi request reprint Genetic background of apparently idiopathic sporadic cerebellar ataxia
    L Schols
    Neurologische Klinik der Ruhr Universität, St Josef Hospital, Bochum, Germany
    Hum Genet 107:132-7. 2000
    ..The frataxin trinucleotide expansion should be investigated in all sporadic ataxia patients with onset before age 40, even when the phenotype is atypical for Friedreich's ataxia...
  6. ncbi request reprint cDNA cloning and expression of rsca1, the rat counterpart of the human spinocerebellar ataxia type 1 gene
    M Gossen
    Molecular Human Genetics, Ruhr University, Bochum, Germany
    Hum Mol Genet 5:381-9. 1996
    ..The rsca1 gene is predominantly expressed in brain throughout all developmental stages. In situ hybridizations reveal high levels of expression in various regions of the adult rat brain, including cerebellum, hippocampus and cortex...
  7. ncbi request reprint Modulation of disease risk according to a cathepsin D / apolipoprotein E genotype in Parkinson's disease
    T Schulte
    Department of Molecular Human Genetics, Ruhr University, Bochum, Germany
    J Neural Transm 110:749-55. 2003
    ..24, p = 0.002). Our findings suggest interference of CTSD and APOE polymorphisms in the pathogenesis of PD, in the sense of modulating disease risk...
  8. ncbi request reprint SCA2 trinucleotide expansion in German SCA patients
    O Riess
    Molecular Human Genetics, Ruhr University, Bochum, Germany
    Neurogenetics 1:59-64. 1997
    ..With one exception, the trinucleotide expansion was not observed in 842 ataxia patients without a family history of the disease. The SCA2 mutation causes the disease in nearly 14% of autosomal dominant SCA in Germany...
  9. ncbi request reprint Predominant neuronal expression of the gene responsible for dentatorubral-pallidoluysian atrophy (DRPLA) in rat
    I Schmitt
    Ruhr University, Bochum, Germany
    Hum Mol Genet 4:1619-24. 1995
    ..In addition this transcript is predominantly represented in neuronal tissues throughout all developmental stages investigated...
  10. ncbi request reprint Involvement of alpha-synuclein in Parkinson's disease and other neurodegenerative disorders
    R Kruger
    Department of Neurology, St Josef Hospital, Ruhr University, Bochum, Federal Republic of Germany
    J Neural Transm 107:31-40. 2000
    ....
  11. ncbi request reprint Genetic dissection of familial Parkinson's disease
    O Riess
    Molecular Human Genetics, Ruhr University, Bochum, Germany
    Mol Med Today 4:438-44. 1998
    ..The increasing knowledge of the pathogenesis of PD at a molecular level will have important implications for the development of individual therapeutic strategies to prevent disease progression...
  12. ncbi request reprint Chromosomal assignment of the human smg GDP dissociation stimulator gene to human chromosome 4q21-q25
    O Riess
    Abteilung für Molekulare Humangenetik, Ruhr Universitat, Bochum, Germany
    Hum Genet 92:629-30. 1993
    ..This chromosomal localization of smg GDP to 4q21-25 overlaps with a region of allele loss in primary hepatocellular carcinoma (4q13-q26)...
  13. ncbi request reprint Expression of the Huntington disease gene in rodents: cloning the rat homologue and evidence for downregulation in non-neuronal tissues during development
    I Schmitt
    Ruhr University, Bochum, Germany
    Hum Mol Genet 4:1173-82. 1995
    ..In contrast, the expression in non-neuronal tissues is markedly reduced in adult animals and corresponds to the restricted distribution of neuropathologic changes observed in HD patients...
  14. ncbi request reprint Mapping, genomic structure, and polymorphisms of the human GABABR1 receptor gene: evaluation of its involvement in idiopathic generalized epilepsy
    H C Peters
    Molecular Human Genetics, Ruhr University, D 44780 Bochum, Germany
    Neurogenetics 2:47-54. 1998
    ..However, clinically unaffected relatives did carry the same variations, excluding these amino acid substitutions as the cause for IGE in these families...
  15. ncbi request reprint Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients
    L Schols
    Department of Neurology, St Josef Hospital, Bochum, Germany
    Hum Mol Genet 4:1001-5. 1995
    ..These results demonstrate that the MJD mutation causes the disease phenotype of most SCA patients in Germany...
  16. ncbi request reprint Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers
    R Kruger
    Department of Neurology, St Josef Hospital, Ruhr University, Bochum, Germany
    Neurology 56:1355-62. 2001
    ..The authors studied carriers of the A30P mutation to compare the phenotype of this mutation with idiopathic PD (IPD) and to assess nigrostriatal dopaminergic function in symptomatic and preclinical mutation carriers...
  17. ncbi request reprint Precise mapping of the brain alpha 2-adrenergic receptor gene within chromosome 4p16
    O Riess
    Molecular Human Genetics, Ruhr University, Bochum, Federal Republic of Germany
    Genomics 19:298-302. 1994
    ..The newly defined microsatellites at the ADRAC2 locus, its precise localization within 4p16, and the detailed PCR conditions facilitate the identification of any defect caused by this gene...
  18. ncbi request reprint Exonic variants of the GABA(B) receptor gene and panic disorder
    P G Sand
    Department of Psychiatry, University of Wurzburg, Germany
    Psychiatr Genet 10:191-4. 2000
    ..There was no indication of an increased vulnerability to panic disorder or agoraphobia with respect to the allelic variants under study...
  19. ncbi request reprint Mutation analysis and association studies of nuclear factor-kappaB1 in sporadic Parkinson's disease patients
    P Wintermeyer
    Department of Molecular Human Genetics, Children s Hospital, University of Rostock, Federal Republic of Germany
    J Neural Transm 109:1181-8. 2002
    ..We identified three base exchanges not affecting the amino acid sequence, which were found at similar frequencies in controls. Our study does not support a genetically definable role of NFKB1 in the pathogenesis of sporadic PD...
  20. ncbi request reprint DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease
    K Hedrich
    Department of Human Genetics, University of Lubeck, Germany
    Neurology 62:389-94. 2004
    ..DJ-1 (PARK7) was recently reported as a second gene associated with recessively inherited PD with a homozygous exon deletion and a homozygous point mutation in two families...
  21. ncbi request reprint Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia
    C Zuhlke
    Institut fur Humangenetik, Universitat Lubeck, 23538 Lubeck, Germany
    Eur J Hum Genet 9:160-4. 2001
    ..The expansion to 50 or more glutamine residues results in a pathological phenotype and confirms the report of a new polyglutamine disease...
  22. ncbi request reprint Genetic analysis of immunomodulating factors in sporadic Parkinson's disease
    R Kruger
    Department of Molecular Human Genetics, University of Wurzburg, Federal Republic of Germany
    J Neural Transm 107:553-62. 2000
    ..0097, p(c) = 0.048, chi2 = 6.69) with a relative risk reduced to 0.52. Our results suggest an involvement of immunomodulating factors in the pathogenesis of sporadic PD as revealed by a molecular genetic approach...
  23. ncbi request reprint Extended mutation analysis and association studies of Nurr1 (NR4A2) in Parkinson disease
    R Hering
    Department of Medical Genetics, Hertie Institute of Clinical Brain Research, University of Tubingen, Germany
    Neurology 62:1231-2. 2004
  24. ncbi request reprint CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)
    S Hayes
    Department of Biology, Centre for Research in Neurosciences and Douglas Hospital Research Institute, McGill University, Montreal, Quebec H3G 1A4, Canada
    Hum Mol Genet 9:1753-8. 2000
    ..This result implicates RAI1 as a possible contributor to SCA2 neurodegeneration and raises the possibility that other CAG-containing proteins may play a role in the pathogenesis of other polyglutamine disorders...
  25. ncbi request reprint Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12
    S E Holmes
    Nat Genet 23:391-2. 1999
  26. ncbi request reprint Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy
    T Sander
    Department of Neurology, University Hospital Charite, Campus Virchow Clinic, Humboldt University of Berlin, Berlin, Germany
    Am J Med Genet 88:305-10. 1999
    ....
  27. ncbi request reprint (CA)n-dinucleotide repeat at the PDEB locus in 4p16.3
    B Weber
    University of British Columbia, Department of Medical Genetics, Vancouver, Canada
    Hum Mol Genet 2:827. 1993
  28. ncbi request reprint The role of alpha-synuclein gene multiplications in early-onset Parkinson's disease and dementia with Lewy bodies
    A Hofer
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Germany
    J Neural Transm 112:1249-54. 2005
    ..A triplication of the alpha-synuclein gene was found to cause autosomal dominant Lewy body disease in two distinct families...
  29. pmc Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype
    P Bauer
    J Med Genet 41:230-2. 2004
  30. ncbi request reprint Screening for mutations of the IRP2 gene in Parkinson's disease patients with hyperechogenicity of the substantia nigra
    J Deplazes
    Institute for Human Genetics, University of Tubingen, Germany
    J Neural Transm 111:515-21. 2004
    ..In one patient a -74C > T variation was found which was not present in the control group. Our data indicate that mutations in the IRP2 gene are not a common cause of PD associated with SN iron accumulation...
  31. ncbi request reprint Ceruloplasmin gene variations and substantia nigra hyperechogenicity in Parkinson disease
    H Hochstrasser
    Institute for Medical Genetics, University of Tuebingen, Germany
    Neurology 63:1912-7. 2004
    ..However, sequence variations in genes involved in iron metabolism have been linked to basal ganglia disorders. One of these is ceruloplasmin (Cp), which is vitally involved in iron transport across the cell membrane...
  32. ncbi request reprint Microarray expression analysis of gad mice implicates involvement of Parkinson's disease associated UCH-L1 in multiple metabolic pathways
    M Bonin
    Department of Medical Genetics, University of Tubingen, Calwerstrasse 7, 72076 Tubingen, Germany
    Brain Res Mol Brain Res 126:88-97. 2004
    ..Interestingly, several subunits of the transcription factor CCAAT/enhancer binding protein are up-regulated, which plays a central role in most altered pathways...
  33. ncbi request reprint Polymorphisms of the alpha-synuclein promoter: expression analyses and association studies in Parkinson's disease
    C Holzmann
    Department of Medical Genetics, University of Rostock, Federal Republic of Germany
    J Neural Transm 110:67-76. 2003
    ..The -668C/-116G haplotype revealed significant higher CAT expression than the -668T/-116G or the -668T/-116C haplotype, respectively. Although the -668C/-116G haplotype was more common in PD patients, this difference was not significant...
  34. ncbi request reprint Practical importance of neuroprotection in Parkinson's disease
    P Riederer
    Clinical Neurochemistry, Clinic and Policlinic of Psychiatry and Psychotherapy, University of Wurzburg, 97080 Wurzburg, Germany
    J Neurol 249:III/53-6. 2002
    ..Also long-term clinical neuroprotection cannot be reached. Complicating factors to demonstrate clinical neuroprotection are discussed...
  35. ncbi request reprint The aetiology of sporadic adult-onset ataxia
    M Abele
    Department of Neurology, University of Bonn, Germany
    Brain 125:961-8. 2002
    ..Compared with MSA, disease progression was significantly slower...
  36. ncbi request reprint The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria
    J Jaruzelska
    Institute of Human Genetics, Polish Academy of Sciences, Poznan
    Hum Genet 86:247-50. 1991
    ..Perhaps more important for genetic counselling, 62% of all PKU chromosomes in the Polish population can now be detected using only one mutant-specific oligonucleotide probe...
  37. ncbi request reprint Genome search for susceptibility loci of common idiopathic generalised epilepsies
    T Sander
    Epilepsy Genetics Group, Department of Neurology, University Hospital Charite, Humboldt University of Berlin, Germany
    Hum Mol Genet 9:1465-72. 2000
    ..The chromosomal segments identified harbour several genes involved in the regulation of neuronal ion influx which are plausible candidates for mutation screening...
  38. ncbi request reprint Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease
    R Kruger
    Nat Genet 18:106-8. 1998
  39. ncbi request reprint Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6
    T Sander
    Department of Neurology, Virchow Hospital, Humboldt University of Berlin, Germany
    Neurology 49:842-7. 1997
    ..A possible explanation for the current controversial results in families of different populations might be ethnic variation of interfering polygenic effects that could be permissive for heterogeneous susceptibility alleles...
  40. ncbi request reprint Mutation analysis of the seven in absentia homolog 1 (SIAH1) gene in Parkinson's disease
    T Franck
    Department of Medical Genetics, University of Tuebingen, Tuebingen, Germany
    J Neural Transm 113:1903-8. 2006
    ..We therefore conclude that genetic alterations of SIAH-1 do not significantly contribute to the pathogenesis of PD...