C Klein

Summary

Country: Germany

Publications

  1. 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
  2. ncbi request reprint Rapid detection of expansions by PCR and non-radioactive hybridization: application for prenatal diagnosis of myotonic dystrophy
    C Zuhlke
    Institut fur Humangenetik, Lubeck, Germany
    Prenat Diagn 20:66-9. 2000
  3. 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
  4. 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
  5. ncbi request reprint SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6
    C H Zühlke
    Institut fur Humangenetik, Universitat Lubeck, 23538 Lubeck, Germany
    Eur J Hum Genet 11:629-32. 2003
  6. ncbi request reprint Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor
    C Zuhlke
    Universitat Lubeck, Institut fur Humangenetik, Lubeck, Germany
    Hum Genet 103:102-5. 1998
  7. ncbi request reprint Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci?
    K Lohmann-Hedrich
    Department of Neurology, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    Neurology 70:686-94. 2008
  8. doi request reprint Autosomal dominant Parkinson's disease in a large German pedigree
    N Bruggemann
    Division of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lubeck, Lubeck, Germany
    Acta Neurol Scand 126:129-37. 2012
  9. ncbi request reprint Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles
    J M Hagenah
    Dept of Neurology, University of Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Germany
    J Neurol 254:1407-13. 2007
  10. doi request reprint Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations
    J M Hagenah
    Department of Neurology, University of Lubeck, Ratzeburger Allee 160, D 23538 Lubeck, Germany
    J Neurol Neurosurg Psychiatry 79:1071-4. 2008

Detail Information

Publications76

  1. 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...
  2. ncbi request reprint Rapid detection of expansions by PCR and non-radioactive hybridization: application for prenatal diagnosis of myotonic dystrophy
    C Zuhlke
    Institut fur Humangenetik, Lubeck, Germany
    Prenat Diagn 20:66-9. 2000
    ..This method combines direct PCR analyses for normal alleles with a nested PCR system followed by non-radioactive hybridization with a single-stranded probe...
  3. 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...
  4. 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...
  5. ncbi request reprint SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6
    C H Zühlke
    Institut fur Humangenetik, Universitat Lubeck, 23538 Lubeck, Germany
    Eur J Hum Genet 11:629-32. 2003
    ....
  6. ncbi request reprint Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor
    C Zuhlke
    Universitat Lubeck, Institut fur Humangenetik, Lubeck, Germany
    Hum Genet 103:102-5. 1998
    ..We found complete haplotype identity for two of the three chromosomes with the point mutation. The third case shows partial conformity and may be the result of a single recombination event...
  7. ncbi request reprint Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci?
    K Lohmann-Hedrich
    Department of Neurology, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    Neurology 70:686-94. 2008
    ..To date, no gene mutation has been found, but five gene loci have been mapped in primary RLS to chromosomes 12q, 14q, 9p, 2q, and 20p (RLS1 through 5)...
  8. doi request reprint Autosomal dominant Parkinson's disease in a large German pedigree
    N Bruggemann
    Division of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lubeck, Lubeck, Germany
    Acta Neurol Scand 126:129-37. 2012
    ..While several genes have been identified to cause Parkinson's disease (PD), monogenic forms explain only a small proportion of cases. We report clinical and genetic results in a large family with late-onset autosomal dominant PD...
  9. ncbi request reprint Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles
    J M Hagenah
    Dept of Neurology, University of Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Germany
    J Neurol 254:1407-13. 2007
    ..Further strengthening the notion of a potential relationship between SN hyperechogenicity and Parkin mutational status, a larger aSN was associated with an increasing number of mutated alleles in our study...
  10. doi request reprint Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations
    J M Hagenah
    Department of Neurology, University of Lubeck, Ratzeburger Allee 160, D 23538 Lubeck, Germany
    J Neurol Neurosurg Psychiatry 79:1071-4. 2008
    ..To investigate substantia nigra (SN) echogenicity in members of a family with homozygous and heterozygous PTEN induced kinase (PINK1) mutations with or without signs of Parkinson's disease (PD)...
  11. doi request reprint Progression of subtle motor signs in PINK1 mutation carriers with mild dopaminergic deficit
    C Eggers
    Department of Neurology, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    Neurology 74:1798-805. 2010
    ..While homozygous mutations in the PINK1 gene cause recessively inherited early-onset Parkinson disease (PD), heterozygous mutations have been suggested as a susceptibility factor...
  12. doi request reprint Differential effects of PINK1 nonsense and missense mutations on mitochondrial function and morphology
    A Grunewald
    Department of Neurology, Lübeck University, Lubeck, Germany
    Exp Neurol 219:266-73. 2009
    ..These results confirm that mutations of PINK1 cause abnormal mitochondrial morphology, bioenergetic function and oxidative metabolism in human tissues but suggest that the biochemical consequences may vary between mutations...
  13. doi request reprint Eye movement disorders are different in Parkin-linked and idiopathic early-onset PD
    B Machner
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Neurology 75:125-8. 2010
    ..Eye movement disorders have been shown to differentiate parkinsonian syndromes, but have never been systematically studied in Parkin mutation carriers...
  14. ncbi request reprint High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening
    J Hagenah
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Neurology 64:908-11. 2005
    ..The authors attribute this high mutation rate to rigorous inclusion criteria and comprehensive mutational analysis...
  15. doi request reprint Myoclonus-dystonia: significance of large SGCE deletions
    A Grunewald
    Department of Neurology, Lübeck University, Lubeck, Germany
    Hum Mutat 29:331-2. 2008
    ..In conclusion, a rigorous clinical preselection of patients and careful accounting for non-motor signs should precede mutational tests. Gene dosage studies should be included in routine SGCE genetic testing...
  16. ncbi request reprint Mutations in DYT1: extension of the phenotypic and mutational spectrum
    K Kabakci
    Department of Neurology, University of Lubeck, Germany
    Neurology 62:395-400. 2004
    ..Exon rearrangements are a common mutation type in other genes and have not yet been tested for in DYT1. Several lines of evidence suggest a relationship of the DYT1 gene with Parkinson disease (PD)...
  17. ncbi request reprint The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism
    K Hedrich
    Department of Neurology, Medical University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    Hum Mol Genet 10:1649-56. 2001
    ..Furthermore, our method of quantitative PCR is easily applicable to any other gene to be screened for deletions or duplications of whole exons...
  18. ncbi request reprint alpha-Synuclein and Parkinson disease susceptibility
    S Winkler
    Department of Neurology, University of Lübeck Ratzeburger Allee 160, 23538 Lubeck, Germany
    Neurology 69:1745-50. 2007
    ..Furthermore, polymorphic variants in multiple regions of the gene have been associated with susceptibility to idiopathic PD in different populations...
  19. doi request reprint Glucocerebrosidase mutations in a Serbian Parkinson's disease population
    K R Kumar
    Department of Neurology, Section of Clinical and Molecular Neurogenetics, University of Lübeck, Lübeck, Germany
    Eur J Neurol 20:402-5. 2013
    ..To screen for glucocerebrosidase (GBA) mutations in a Serbian Parkinson's disease (PD) population...
  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. pmc Genetic heterogeneity in ten families with myoclonus-dystonia
    B Schule
    Department of Neurology, University of Lubeck, Germany
    J Neurol Neurosurg Psychiatry 75:1181-5. 2004
    ..Furthermore, single variants in the dopamine D2 receptor (DRD2) and DYT1 genes were found in combination with SGCE mutations in two M-D families, and another M-D locus was recently mapped to chromosome 18p11 in one family...
  22. ncbi request reprint Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations
    C Helmchen
    Department of Neurology, University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    J Neurol 253:1071-5. 2006
    ..Saccade main sequence and blink effects on saccades were normal. We propose that increased blink amplitude may serve as an endophenotype in carriers of Parkin mutations...
  23. doi request reprint The role of genes in causing dystonia
    A Schmidt
    Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lubeck, Lubeck, Germany
    Eur J Neurol 17:65-70. 2010
    ..In recent years, the identification of several new dystonia genes has provided important insights into the nature of this clinically and genetically heterogeneous disorder...
  24. ncbi request reprint Functional MRI reveals activation of a subcortical network in a 5-year-old girl with genetically confirmed myoclonus-dystonia
    M F Nitschke
    Department of Neurology, University Hospital of Schleswig Holstein, Campus Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    Neuropediatrics 37:79-82. 2006
    ..An age matched healthy control did not show significant activation within the thalamus or dentate nucleus...
  25. doi request reprint [Dystonia]
    A Schmidt
    Klinik fur Neurologie, Universitatsklinikum Schleswig Holstein, Campus Lubeck, Ratzeburger Allee 160, 23538, Lubeck, Germany
    Nervenarzt 79:53-63; quiz 64-5. 2008
    ..A trial of levodopa is recommended in young-onset cases. In focal forms, botulinum toxin injections are helpful. Anticholinergics may be beneficial. In severe cases deep brain stimulation may be considered...
  26. doi request reprint Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia
    M Walter
    Department of Medical Genetics, Institute of Human Genetics, University of Tuebingen, Tuebingen, Germany
    Neurobiol Dis 38:192-200. 2010
    ..5% and a specificity of 85.7%. Conclusively, this genetic signature might provide a possibility to distinguish DYT1 patients from asymptomatic mutation carriers...
  27. ncbi request reprint [Treatment of sialorrhea with botulinum toxin: an overview]
    J Hagenah
    Klinik fur Neurologie, Universitat Lubeck
    Nervenarzt 76:418-25. 2005
    ..Over the past few years, several studies reported decreased drooling after injections of botulinum toxin into the salivary glands. This review describes the current state of treatment of sialorrhea with botulinum toxin...
  28. ncbi request reprint [Genetics of dystonia]
    C Klein
    Neurology Department, Massachusetts General Hospital, Boston, USA
    Nervenarzt 71:431-41. 2000
    ....
  29. ncbi request reprint Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia
    C Klein
    Department of Neurology, Medical University of Lubeck, Germany
    Neurology 59:1783-6. 2002
    ..These deletions were detected by quantitative duplex PCR that is amenable to DNA diagnostics...
  30. ncbi request reprint Movement disorders: classifications
    C Klein
    Department of Neurology, University of Lubeck, Lubeck, Germany
    J Inherit Metab Dis 28:425-39. 2005
    ..Continued research by both clinicians and basic scientists is necessary in order to refine and redefine classification schemes of movement disorders...
  31. ncbi request reprint Voluntary palatal tremor is associated with hyperactivation of the inferior olive: a functional magnetic resonance imaging study
    M F Nitschke
    Department of Neurology, Medical University of Lubeck, Lubeck, Germany
    Mov Disord 16:1193-5. 2001
    ..Finger movements elicited only ipsilateral lobular cerebellar activation, suggesting a dysfunctional nuclear activation by palatal tremor...
  32. ncbi request reprint [Pharmacological strategies for clozapine-induced hypersalivation: treatment with botulinum toxin B in one patient and review of the literature]
    K G Kahl
    Klinik fur Psychiatrie und Psychotherapie, Universitat Lubeck, 23538 Lubeck
    Nervenarzt 76:205-8. 2005
    ..We here present an overview on current treatment strategies for sialorrhea and describe a patient who received botulinum toxin B for clozapine-induced hypersalivation...
  33. ncbi request reprint BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study
    S Karamohamed
    Department of Neurology, Boston University School of Medicine, MA, USA
    Neurology 65:1823-5. 2005
    ..Homozygosity for the rare allele of the functional BDNF G196A (Val66Met) variant was associated with a 5.3-year older onset age (p = 0.0001). These findings suggest that BDNF may influence PD onset age...
  34. pmc Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency
    J L K Van Hove
    Department of Pediatrics, University of Colorado Health Sciences Center, Denver, CO, USA
    J Neurol Neurosurg Psychiatry 77:18-23. 2006
    ..Segawa syndrome due to GTP cyclohydrolase deficiency is an autosomal dominant disorder with variable expression, that is clinically characterised by l-dopa responsive, diurnally fluctuating dystonia and parkinsonian symptoms...
  35. ncbi request reprint Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia
    M C F Gerrits
    Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands
    Neurology 66:759-61. 2006
    ..Positive family history and truncal myoclonus were independent prognostic factors. Early disease onset, onset with both myoclonus and dystonia, and axial dystonia were detected significantly more often in the mutation carriers...
  36. ncbi request reprint Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia
    J Hagenah
    Neurology 68:2157; author reply 2157-8. 2007
  37. pmc NDT80, a meiosis-specific gene required for exit from pachytene in Saccharomyces cerevisiae
    L Xu
    Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts 02138, USA
    Mol Cell Biol 15:6572-81. 1995
    ....
  38. doi request reprint Association of HAX1 deficiency with neurological disorder
    N Rezaei
    Immunology, Asthma and Allergy Research Institute, Medical Sciences, University of Tehran, Tehran, Iran
    Neuropediatrics 38:261-3. 2007
    ..She also suffered from psychomotor retardation and recurrent seizures. This case illustrates that HAX1 deficiency may be associated with a neurological phenotype...
  39. ncbi request reprint MECP2 mutations in Serbian Rett syndrome patients
    A Djarmati
    Faculty of Biology, University of Belgrade, Belgrade, Serbia
    Acta Neurol Scand 116:413-9. 2007
    ..Rett syndrome is a severe neurodevelopmental X-linked dominant disorder affecting 1/15,000 girls worldwide. Eight years ago, the MECP2 gene was associated with the devastating clinical features observed in Rett syndrome patients...
  40. ncbi request reprint Dominantly transmitted focal dystonia in families of patients with musician's cramp
    A Schmidt
    Institute of Music Physiology and Musicians Medicine, Hanover University of Music and Drama, Hanover, Germany
    Neurology 67:691-3. 2006
    ..Our results suggest a genetic contribution to FTSD with phenotypic variability, including musician's dystonia...
  41. ncbi request reprint Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers
    C W Hess
    Department of Neurology, PACC, Beth Israel Medical Center, Suite 5J, 10 Union Square East, New York, NY 10003, USA
    Neurology 68:522-4. 2007
    ....
  42. ncbi request reprint Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17)
    J Hübner
    Department of Neurology, University of Luebeck, Luebeck, Germany
    Neurology 69:1160-8. 2007
    ..In this quantitative characterization of eye movements in SCA17 mutation carriers, we investigated whether eye movement abnormalities originate from multiple lesion sites as suggested by their phenotypic heterogeneity...
  43. ncbi request reprint Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study
    Samer Karamohamed
    Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, USA
    Mov Disord 20:1188-91. 2005
    ..None of the variants were found in the GenePD families. Our results suggest that other variants or genes account for the familial risk of PD within the GenePD study...
  44. ncbi request reprint Motor reorganization in asymptomatic carriers of a single mutant Parkin allele: a human model for presymptomatic parkinsonism
    C Buhmann
    NeuroImage Nord, Hamburg Kiel Lübeck, Germany
    Brain 128:2281-90. 2005
    ..We infer that this reorganization of striatocortical motor loops reflects a compensatory effort to overcome latent nigrostriatal dysfunction...
  45. pmc Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family
    K Kabakci
    Department of Neurology, University of Lubeck, Lubeck, Germany
    J Neurol Neurosurg Psychiatry 76:860-2. 2005
    ..Molecular genetic analysis also excluded linkage to the DYT6 locus and the GAG deletion in DYT1, suggesting at least one additional RDP gene...
  46. pmc Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels
    C Walter
    , , , , 44801 Bochum, Germany
    Am J Hum Genet 69:35-48. 2001
    ....
  47. ncbi request reprint Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
    J C Leung
    Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston 02114, USA
    Neurogenetics 3:133-43. 2001
    ..This 18-bp deletion is the first additional mutation, beyond the GAG-deletion (Glu302/303del), to be found in the TOR1A gene, and is associated with a distinct type of early onset dystonia...
  48. ncbi request reprint Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: a clinical-genetic and PET study
    P P Pramstaller
    Department of Neurology, Regional General Hospital, Bolzano Bozen, Italy
    Neurology 58:808-10. 2002
    ..Parkin mutations should be considered in HPHA, particularly when there is a younger age at onset and dystonia is an early sign...
  49. ncbi request reprint Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations
    K Hedrich
    Department of Neurology, Medical University of Lubeck, Germany
    Neurology 58:1239-46. 2002
    ..Early onset PD has been associated with different mutations in the Parkin gene, including exon deletions and duplications...
  50. ncbi request reprint Phenotypic features of myoclonus-dystonia in three kindreds
    D O Doheny
    Department of Neurology, Mount Sinai School of Medicine, Annenberg 14 51A, Box 1052, New York, NY 10029, USA
    Neurology 59:1187-96. 2002
    ..Autosomal dominant alcohol-responsive M-D is associated with mutations in the epsilon-sarcoglycan gene (SGCE) (six families) and with a missense change in the D2 dopamine receptor (DRD2)gene (one family)...
  51. ncbi request reprint The TOR1A (DYT1) gene family and its role in early onset torsion dystonia
    L J Ozelius
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Genomics 62:377-84. 1999
    ..Proteins encoded by this gene family share functional domains with the AAA/HSP/Clp-ATPase superfamily of chaperone-like proteins, but appear to represent a distinct evolutionary branch...
  52. ncbi request reprint Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31
    T G Nygaard
    Department of Neurology, East Orange Veteran s Administration Medical Center, NJ, USA
    Ann Neurol 46:794-8. 1999
    ..The disorder may be familial with apparent autosomal dominant inheritance. We report a large kindred with essential familial myoclonus-dystonia and map a locus for the disorder to a 28-cM region of chromosome 7q21-q31...
  53. ncbi request reprint Focal and segmental primary dystonia in north-western Germany--a clinico-genetic study
    S Maniak
    Department of Neurology, Medical University of Lubeck, Lubeck, Germany
    Acta Neurol Scand 107:228-32. 2003
    ..To determine the frequency of familial focal and segmental dystonias in a large patient cohort with primary dystonia from north-western Germany...
  54. ncbi request reprint Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13
    P L Kramer
    Department of Neurology, Oregon Health Sciences University, Portland 97201, USA
    Ann Neurol 46:176-82. 1999
    ..Identification of the genetic defect in RDP holds promise for understanding the underlying disease processes of both of these more common diseases...
  55. ncbi request reprint Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations
    K Hedrich
    Department of Neurology, University of Lubeck, Germany
    Neurology 62:1229-31. 2004
  56. ncbi request reprint Parkin-proven disease: common founders but divergent phenotypes
    S Lincoln
    Neurogenetic Laboratories, Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurology 60:1605-10. 2003
    ..To compare and contrast clinical and genetic findings in six probands with parkinsonism with a parkin exon 3 438- to 477-bp deletion (Ex3Delta40) to search for evidence of a common founder...
  57. ncbi request reprint A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study
    S Karamohamed
    Department of Neurology, Boston University School of Medicine, MA 02118, USA
    Neurology 61:1557-61. 2003
    ..To identify a haplotype influencing onset age for Parkinson's disease (PD) in the PARK3 region on chromosome 2p13...
  58. ncbi request reprint Hereditary myoclonus-dystonia associated with epilepsy
    E M J Foncke
    Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands
    Neurology 60:1988-90. 2003
    ..The genetic and clinical heterogeneity of M-D is extended. EEG changes and epilepsy should not be considered exclusion criteria for the clinical diagnosis of M-D...
  59. pmc A major lung cancer susceptibility locus maps to chromosome 6q23-25
    J E Bailey-Wilson
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Am J Hum Genet 75:460-74. 2004
    ..These results localize a major susceptibility locus influencing lung cancer risk to 6q23-25...
  60. ncbi request reprint Dictyostelium discoideum Hsp32 is a resident nucleolar heat-shock protein
    A M Moerman
    Cellular and Molecular Biology Graduate Training Program, St Louis University School of Medicine, 1402 South Grand Boulevard, St Louis, MO 63104, USA
    Chromosoma 107:145-54. 1998
    ..Hsp32 therefore retains ist nucleolar localization under prolonged heat shock conditions by associating with nucleolar components other than the rDNA or rRNA...
  61. pmc Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study
    J E Tobin
    Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Bethesda, MD 20814, USA
    Neurology 71:28-34. 2008
    ....
  62. pmc Association of a missense change in the D2 dopamine receptor with myoclonus dystonia
    C Klein
    Molecular Neurogenetics Unit, Neurology Service, Massachusetts General Hospital and Department of Neurology, Harvard Medical School, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 96:5173-6. 1999
    ..Our finding provides evidence for the involvement of DRD2 in a disorder of the central nervous system and should lead to further insight into the function of the dopaminergic system in dystonia and other movement and mood disorders...
  63. ncbi request reprint Chalcone derivatives antagonize interactions between the human oncoprotein MDM2 and p53
    R Stoll
    Max Planck Institute of Biochemistry, D-82152 Martinsried, Germany
    Biochemistry 40:336-44. 2001
    ..These results thus offer a starting basis for structure-based drug design of cancer therapeutics...
  64. ncbi request reprint cMeso-1, a novel bHLH transcription factor, is involved in somite formation in chicken embryos
    A Buchberger
    Department of Cell and Molecular Biology, Technical University of Braunschweig, Germany
    Dev Biol 199:201-15. 1998
    ....
  65. doi request reprint Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism
    E Moro
    Movement Disorder Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada
    Neurology 70:1186-91. 2008
    ....
  66. ncbi request reprint [The genetics of Parkinson syndrome]
    C Klein

    Praxis (Bern 1994) 90:1015-23. 2001
    ..All three parkinson genes identified thus far imply the involvement of the ubiquitin pathway of protein degradation in the pathogenesis of Parkinson's disease...
  67. pmc Targeting the p53-MDM2 interaction to treat cancer
    C Klein
    Pharma Research, Roche Diagnostics GmbH, Penzberg D 82372, Germany
    Br J Cancer 91:1415-9. 2004
    ..Recently, the first potent and selective small-molecule antagonists of MDM2, the Nutlins, have been identified. Studies with Nutlins provided in vitro and in vivo proof-of-principle for targeting p53-MDM2 interaction for cancer therapy...
  68. ncbi request reprint Distinguishing early-onset PD from dopa-responsive dystonia with transcranial sonography
    J M Hagenah
    Department of Neurology, University of Lubeck, Ratzeburger Allee 160 D 23538 Lübeck, Germany
    Neurology 66:1951-2. 2006
  69. ncbi request reprint Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia
    E M J Foncke
    Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands
    Neurology 67:1677-80. 2006
    ..Five of 14 asymptomatic mutation carriers who inherited the mutation from their mother showed minimal axial dystonia, arguing against a maternal imprinting mechanism...
  70. pmc Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden
    M Melin
    Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
    Biochem Biophys Res Commun 353:571-5. 2007
    ..One affected individual from the original Kostmann pedigree was confirmed as a phenocopy. The minimal haplotype shared by affected individuals spans a candidate region of 1.2 Mb, containing several potential candidate genes...
  71. ncbi request reprint Clinical findings of a myoclonus-dystonia family with two distinct mutations
    D Doheny
    Department of Neurology, Mount Sinai School of Medicine, New York, NY, USA
    Neurology 59:1244-6. 2002
    ..Further analysis of these mutations separately and together in cell culture and in animal models should clarify their functional consequences...
  72. ncbi request reprint Further evidence for a somatic KRAS mutation in a pilocytic astrocytoma
    W G Janzarik
    Department of Neurology, University Hospital Freiburg, Freiburg, Germany
    Neuropediatrics 38:61-3. 2007
    ..These data suggest that Ras is rarely mutated in these tumors. Analyzed astrocytomas without mutations in Ras or neurofibromin may harbor mutations in other proteins of this pathway leading to hyperactive Ras signaling...
  73. ncbi request reprint Dopamine transmission in DYT1 dystonia: a biochemical and autoradiographical study
    Sarah J Augood
    Center for Aging, Genetics, and Neurodegeneration, Massachusetts General Hospital and Harvard Medical School, 114 16th Street, Charlestown, MA 02129, USA
    Neurology 59:445-8. 2002
    ....
  74. ncbi request reprint The parkin gene is not involved in late-onset Parkinson's disease
    M Kann
    Neurology 58:835; author reply 835. 2002
  75. ncbi request reprint High thermostability and lack of cooperative DNA binding distinguish the p63 core domain from the homologous tumor suppressor p53
    C Klein
    Pharma Research, Roche Diagnostics GmbH, D 82372 Penzberg, Germany
    J Biol Chem 276:37390-401. 2001
    ..The model also shows differences in the electrostatic and hydrophobic potentials of the domains relevant to folding stability...
  76. ncbi request reprint Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia
    F Binkofski
    Department of Neurology, University Hospital Schleswig Holstein, Campus Luebeck, Luebeck, Germany
    Neurology 69:842-50. 2007
    ..We hypothesized that subclinical nigrostriatal neurodegeneration caused by these mutations would induce morphologic changes in the dysfunctional striatal gray matter...