J E Nielsen

Summary

Affiliation: University of Copenhagen
Country: Denmark

Publications

  1. 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
  2. ncbi 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
  3. ncbi 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
  4. ncbi 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
  5. doi 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
  6. doi Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)
    H Eiberg
    Department of Cellular and Molecular Medicine, Faculty of Health, University of Copenhagen, Copenhagen, Denmark
    Clin Genet 82:256-63. 2012
  7. doi NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy
    K Svenstrup
    Section of Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
    Eur J Neurol 18:1197-9. 2011
  8. doi Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort
    T T Nielsen
    1 Danish Dementia Research Centre, Neurogenetics Clinic, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark 2 Department of Cellular and Molecular Medicine, Section of Neurogenetics, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Spinal Cord 52:77-9. 2014
  9. doi 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
  10. doi 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

Collaborators

  • H Eiberg
  • A Nørremølle
  • P Koefoed
  • C Krarup
  • B Johnsen
  • J Christensen
  • A Fuglsang-Frederiksen
  • Peter Johannsen
  • F Asmus
  • E Rajpert-De Meyts
  • M Hallett
  • J Vissing
  • Enrico Bertini
  • C Crone
  • K Svenstrup
  • C E Hoei-Hansen
  • S G Lindquist
  • K Almstrup
  • T T Nielsen
  • H Leffers
  • N E Skakkebaek
  • L E Hjermind
  • K H Scheuer
  • M K Bruno
  • L M Jørgensen
  • M Duno
  • E Budtz-Jørgensen
  • M Gilling
  • R S Møller
  • Anders Gade
  • M C Walter
  • Martin Rossor
  • Susanne Gydesen
  • D J Blake
  • H Braedgaard
  • M Schwartz
  • Elisabet Englund
  • Elizabeth Fisher
  • M Batbayli
  • John Collinge
  • Tove Thusgaard
  • A M Isaacs
  • I Law
  • J Erdal
  • Ida Holm
  • Jerry Brown
  • H Lochmuller
  • J Stokholm
  • G Waldemar
  • I E Holm
  • T Krag
  • M Pandolfo
  • G W J Auburger
  • A E Lang
  • A Friedman
  • L Werdelin
  • L Ptacek
  • K Gwinn-Hardy
  • P Jennum
  • Y Averyanov
  • K Fenger
  • H Kwiecinski
  • S Servidei
  • B A Rogvi-Hansen
  • B Sorenson
  • Y H Fu
  • H Y Lee
  • P Van Bogaert
  • N Graem
  • W Ansorge
  • U Wirkner
  • S Brask Sonne
  • M Ravnborg
  • M A Hansen
  • E Rajpert-DeMeyts

Detail Information

Publications18

  1. 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...
  2. ncbi 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
    ....
  3. ncbi 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
    ....
  4. ncbi 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...
  5. doi 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
    ....
  6. doi Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)
    H Eiberg
    Department of Cellular and Molecular Medicine, Faculty of Health, University of Copenhagen, Copenhagen, Denmark
    Clin Genet 82:256-63. 2012
    ....
  7. doi NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy
    K Svenstrup
    Section of Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark
    Eur J Neurol 18:1197-9. 2011
    ..2 including NIPA1 have been identified in patients with IGE. The purpose was to identify NIPA1 mutations in patients with pure and complex HSP...
  8. doi Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort
    T T Nielsen
    1 Danish Dementia Research Centre, Neurogenetics Clinic, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark 2 Department of Cellular and Molecular Medicine, Section of Neurogenetics, The Panum Institute, University of Copenhagen, Copenhagen, Denmark
    Spinal Cord 52:77-9. 2014
    ....
  9. doi 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...
  10. doi 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. ncbi 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...
  12. ncbi Identification of genes differentially expressed in testes containing carcinoma in situ
    C E Hoei-Hansen
    University Department of Growth and Reproduction, Rigshospitalet, Section GR 5064, Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Mol Hum Reprod 10:423-31. 2004
    ..g. DCN, IGFBP6, SFRP1, SALL1), supporting our hypothesis that the origin of CIS is probably associated with disturbances of the fetal development of the testis...
  13. ncbi 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 Genome-wide gene expression profiling of testicular carcinoma in situ progression into overt tumours
    K Almstrup
    University Department of Growth and Reproduction, Rigshospitalet, Section GR 5064, Blegdamsvej 9, Copenhagen DK 2100, Denmark
    Br J Cancer 92:1934-41. 2005
    ....
  15. doi Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family
    S G Lindquist
    Memory Disorders Research Group, Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Denmark
    Eur J Neurol 15:667-70. 2008
    ..Recent advances in understanding the heterogeneous genetic background for different clinical and neuropathological entities of FTD have involved identification of several new causative genes...
  16. ncbi Double-blind crossover trial of gabapentin in SPG4-linked hereditary spastic paraplegia
    K H Scheuer
    Department of Neurology, Hillerød Hospital, Denmark
    Eur J Neurol 14:663-6. 2007
    ..There was no difference between periods with gabapentin and placebo treatment in clinical assessment, self-reported parameters or paired transcranial magnetic stimulation evaluation of motor cortical excitability...
  17. ncbi MEP recruitment curves in multiple sclerosis and hereditary spastic paraplegia
    L M Jørgensen
    Department of Neurophysiology, Rigshospitalet, Denmark
    J Neurol Sci 237:25-9. 2005
    ..Multiple sclerosis (MS) represents both demyelination and axonal degeneration. Hereditary Spastic Paraplegia (HSP) was included as a model of pure axonal loss...
  18. ncbi Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia
    M K Bruno
    Department of Neurology, University of California, San Francisco, CA 94158, USA
    Neurology 68:1782-9. 2007
    ..Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare disorder characterized by episodic hyperkinetic movement attacks. We have recently identified mutations in the MR-1 gene causing familial PNKD...