Jørgen E Nielsen

Summary

Affiliation: University of Copenhagen
Country: Denmark

Publications

  1. ncbi request reprint Increased intracortical facilitation in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p
    J E Nielsen
    Department of Medical Genetics, Institute of Medical Biochemistry and Genetics, Section of Neurogenetics, University of Copenhagen, The Panum Institute, DK 2200 Copenhagen N, Denmark
    Eur J Neurol 8:335-9. 2001
  2. ncbi request reprint Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection
    Jørgen E Nielsen
    Institute of Medical Biochemistry and Genetics, Department of Medical Genetics, Section of Neurogenetics, University of Copenhagen, The Panum Institute, Copenhagen, Denmark
    Prenat Diagn 24:363-6. 2004
  3. ncbi request reprint Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation
    J E Nielsen
    Department of Medical Genetics, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark
    Eur J Neurol 11:817-24. 2004
  4. ncbi request reprint Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins
    Anne Nørremølle
    Institute of Medical Biochemistry and Genetics, Section of Neurogenetics, University of Copenhagen, DK 2200 Copenhagen, Denmark
    Am J Med Genet A 130:154-9. 2004
  5. doi request reprint Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'
    Kirsten Svenstrup
    Section of Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
    J Neurol Neurosurg Psychiatry 81:666-72. 2010
  6. doi request reprint Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation
    Sara Bech
    Department of Cellular and Molecular Medicine, Section of Neurogenetics, The Panum Institute, University of Copenhagen, Denmark
    Parkinsonism Relat Disord 16:12-5. 2010
  7. doi request reprint Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia
    Kirsten Svenstrup
    Section of Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark
    J Neurol Sci 284:90-5. 2009
  8. pmc Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: a case report
    Troels Tolstrup Nielsen
    Memory Disorders Research Group, Neurogenetics Clinic, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
    BMC Neurol 12:73. 2012
  9. doi request reprint Reduced gluconeogenesis and lactate clearance in Huntington's disease
    Knud Josefsen
    The Bartholin Institute, Rigshospitalet, Copenhagen, Denmark
    Neurobiol Dis 40:656-62. 2010
  10. doi request reprint No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations
    L E Hjermind
    Department of Medical Genetics, University of Copenhagen, Copenhagen, Denmark
    Eur J Neurol 15:525-9. 2008

Detail Information

Publications20

  1. ncbi request reprint Increased intracortical facilitation in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p
    J E Nielsen
    Department of Medical Genetics, Institute of Medical Biochemistry and Genetics, Section of Neurogenetics, University of Copenhagen, The Panum Institute, DK 2200 Copenhagen N, Denmark
    Eur J Neurol 8:335-9. 2001
    ....
  2. ncbi request reprint Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection
    Jørgen E Nielsen
    Institute of Medical Biochemistry and Genetics, Department of Medical Genetics, Section of Neurogenetics, University of Copenhagen, The Panum Institute, Copenhagen, Denmark
    Prenat Diagn 24:363-6. 2004
    ..To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP)...
  3. ncbi request reprint Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation
    J E Nielsen
    Department of Medical Genetics, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark
    Eur J Neurol 11:817-24. 2004
    ..We conclude that this kindred demonstrates a considerable overlap between cerebellar ataxia and spastic paraplegia, emphasizing the marked clinical heterogeneity of HSP associated with spastin mutations...
  4. ncbi request reprint Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins
    Anne Nørremølle
    Institute of Medical Biochemistry and Genetics, Section of Neurogenetics, University of Copenhagen, DK 2200 Copenhagen, Denmark
    Am J Med Genet A 130:154-9. 2004
    ....
  5. doi request reprint Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'
    Kirsten Svenstrup
    Section of Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
    J Neurol Neurosurg Psychiatry 81:666-72. 2010
    ..The PLP1 protein is a major myelin protein involved in stabilisation and maintenance of the myelin sheath. The function of the protein has been studied in the rumpshaker mouse, which is a model of SPG2/PMD...
  6. doi request reprint Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation
    Sara Bech
    Department of Cellular and Molecular Medicine, Section of Neurogenetics, The Panum Institute, University of Copenhagen, Denmark
    Parkinsonism Relat Disord 16:12-5. 2010
    ..We conclude that, however rare, SCA17 must be considered as a cause of Huntington's disease-like phenotypes and ataxia syndromes, also in isolated cases...
  7. doi request reprint Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia
    Kirsten Svenstrup
    Section of Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark
    J Neurol Sci 284:90-5. 2009
    ..In HSPD1 we identified a sporadic patient homozygote for the potential modifying variation. The effect of the modifying HSPD1 variation was not supported by identification in one SPG4 family...
  8. pmc Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: a case report
    Troels Tolstrup Nielsen
    Memory Disorders Research Group, Neurogenetics Clinic, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
    BMC Neurol 12:73. 2012
    ..The diagnosing of the SCAs is often difficult due to the phenotypic overlap among several of the subtypes and with other neurodegenerative disorders e.g. Huntington's disease...
  9. doi request reprint Reduced gluconeogenesis and lactate clearance in Huntington's disease
    Knud Josefsen
    The Bartholin Institute, Rigshospitalet, Copenhagen, Denmark
    Neurobiol Dis 40:656-62. 2010
    ..We propose that blood glucose concentration in the recovery from exercise can be applied as a liver function test in HD patients...
  10. doi request reprint No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations
    L E Hjermind
    Department of Medical Genetics, University of Copenhagen, Copenhagen, Denmark
    Eur J Neurol 15:525-9. 2008
    ..This suggests a different role of the sarcoglycan complex epsilonbetagammadelta versus alphabetagammadelta complex in humans, as earlier suggested in rodents...
  11. pmc Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study
    J E Nielsen
    Institute of Medical Biochemistry and Genetics, Laboratory of Medical Genetics, University of Copenhagen, Denmark
    J Neurol Neurosurg Psychiatry 64:61-6. 1998
    ..In this study the clinical, genetic, neurophysiological, and MRI characteristics of ADPSP were investigated...
  12. doi request reprint Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation
    S G Lindquist
    Memory Disorders Research Group, The Neuroscience Centre, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
    Eur J Neurol 15:377-85. 2008
    ..The clinical and genetic heterogeneity of autosomal dominant inherited dementia must be taken into account in the genetic counselling and genetic testing of families with autosomal dominantly inherited dementia in general...
  13. ncbi request reprint Reciprocal inhibition and corticospinal transmission in the arm and leg in patients with autosomal dominant pure spastic paraparesis (ADPSP)
    C Crone
    Department of Clinical Neurophysiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
    Brain 127:2693-702. 2004
    ....
  14. pmc Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2
    Tua Vinther-Jensen
    Memory Disorders Research Group, Neurogenetics Clinic, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
    Eur J Hum Genet 21:626-9. 2013
    ..Surprisingly, the expanded allele of the father was an interrupted CAG repeat sequence. Furthermore, analyses of single spermatozoa showed a high frequency of paternal germ-line repeat sequence instability of the expanded SCA2 locus...
  15. doi request reprint Amyloid-related biomarkers and axonal damage proteins in parkinsonian syndromes
    Sara Bech
    Department of Neurology, Bispebjerg Hospital, Copenhagen University Hospital, Copenhagen, Denmark
    Parkinsonism Relat Disord 18:69-72. 2012
    ....
  16. doi request reprint A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment
    S G Lindquist
    Memory Disorders Research Group, Department of Neurology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
    Eur J Neurol 15:1135-9. 2008
    ..Pathogenic mutations in the genes associated with autosomal dominant inherited AD have been shown to alter processing of the amyloid precursor protein (APP) resulting in a relative increase of the amount of Abeta42 peptide...
  17. ncbi request reprint Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish family
    J E Nielsen
    Laboratory of Medical Genetics, University of Copenhagen, Denmark
    Mov Disord 11:533-41. 1996
    ....
  18. doi request reprint Genetic testing in familial AD and FTD: mutation and phenotype spectrum in a Danish cohort
    S G Lindquist
    Neurogenetics Clinic, Memory Disorders Research Group, Department of Neurology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
    Clin Genet 76:205-9. 2009
    ..Seven presumed pathogenic mutations (two PSEN1, one PSEN2, one APP, one MAPT, and two PGRN) were identified, including a novel PSEN2 mutation (V393M). No dosage aberrations were identified...
  19. doi request reprint 4p16.3 haplotype modifying age at onset of Huntington disease
    A Nørremølle
    Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark
    Clin Genet 75:244-50. 2009
    ....
  20. ncbi request reprint Stem cell pluripotency factor NANOG is expressed in human fetal gonocytes, testicular carcinoma in situ and germ cell tumours
    C E Hoei-Hansen
    University Department of Growth and Reproduction and Department of Pathology, Rigshospitalet, Copenhagen, Denmark
    Histopathology 47:48-56. 2005
    ..In the present study we analysed the protein expression of NANOG during normal development of human testis and in a large series of neoplastic/dysgenetic specimens...