Jørgen Erik Nielsen

Jørgen Erik Nielsen

Clinical Professor

Member of:

  • Neurology


Publication year:
All
1 - 25 out of 149Page size: 25
  1. 1996
  2. Published

    Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish family.

    Nielsen, Jørgen Erik, Sørensen, S. A., Hasholt, Lis Frydenreich & Nørremølle, Anne, 1996, In: Movement Disorders. 11, 5, p. 533-541 9 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. 2002
  4. Published

    Possible autocrine loop of the epidermal growth factor system in patients with benign prostatic hyperplasia treated with finasteride: a placebo-controlled randomized study

    Tørring, N., Jensen, K. M., Lund, Line, Nielsen, Jørgen Erik, Djurhuus, J. C., Poulsen, S. S., Nexø, E. & Poulsen, Steen Seier, 1 Apr 2002, In: B J U International (Print). 89, 6, p. 583-90 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  5. 2004
  6. Published

    Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection

    Nielsen, Jørgen Erik, Koefoed, P., Kjaergaard, S., Jensen, L. N., Nørremølle, Anne & Hasholt, Lis Frydenreich, 2004, In: Prenatal Diagnosis. 24, 5, p. 363-6 3 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  7. Published

    Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.

    Nielsen, Jørgen Erik, Johnson, B., Koefoed, P., Scheuer, K. H., Grønbech-Jensen, M., Law, I., Krabbe, K., Nørremølle, Anne, Eiberg, Hans Rudolf Lytchoff, Søndergård, H., Dam, M., Rehfeld, J. F., Krarup, C., Paulson, Olaf B., Hasholt, Lis Frydenreich & Sørensen, S. A., 2004, In: European Journal of Neurology. 11, 12, p. 817-824 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  8. 2005
  9. Published

    Reduced regional cerebral blood flow in SPG4-linked hereditary spastic paraplegia

    Scheuer, K. H., Nielsen, Jørgen Erik, Krabbe, K., Simonsen, C., Koefoed, P., Sørensen, S. A., Gade, A., Paulson, Olaf B. & Law, Ian, 2005, In: Journal of the Neurological Sciences. 235, 1-2, p. 23-32 9 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  10. 2008
  11. Published

    Cortical volumes and atrophy rates in FTD-3 CHMP2B mutation carriers and related non-carriers

    Eskildsen, S. F., Østergaard, L. R., Rodell, A. B., Østergaard, L., Nielsen, Jørgen Erik, Isaacs, A. M. & Johannsen, P., 2008, In: NeuroImage. 45, 3, p. 713-21 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  12. Published

    [Hereditary Parkinson disease. The Danish Society of Movement Disorders]

    Hjermind, L. E. & Nielsen, Jørgen Erik, 2008, In: Ugeskrift for læger. 170, 12, p. 1016-

    Research output: Contribution to journal › Journal article › Research › peer-review

  13. 2009
  14. Published

    Huntington's disease does not appear to increase the risk of diabetes mellitus

    Boesgaard, T. W., Nielsen, T. T., Josefsen, K. E., Hansen, T., Jørgensen, T., Pedersen, O., Nørremølle, Anne, Nielsen, Jørgen Erik & Hasholt, Lis Frydenreich, 2009, In: Journal of Neuroendocrinology. 21, 9, p. 770-6 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  15. Published

    Genetic testing in familial AD and FTD: mutation and phenotype spectrum in a Danish cohort

    Lindquist, Suzanne Granhøj, Schwartz, M., Batbayli, M., Waldemar, Gunhild & Nielsen, Jørgen Erik, 2009, In: Clinical Genetics. 76, 2, p. 205-9 4 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  16. Published

    4p16.3 haplotype modifying age at onset of Huntington disease

    Nørremølle, Anne, Budtz-Joergensen, Esben, Fenger, K., Nielsen, Jørgen Erik, Sørensen, S. A. & Hasholt, Lis Frydenreich, 2009, In: Clinical Genetics. 75, 3, p. 244-50 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  17. Published

    A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction

    Puschmann, A., Ross, O. A., Vilariño-Güell, C., Lincoln, S. J., Kachergus, J. M., Cobb, S. A., Lindquist, Suzanne Granhøj, Nielsen, Jørgen Erik, Wszolek, Z. K., Farrer, M., Widner, H., van Westen, D., Hägerström, D., Markopoulou, K., Chase, B. A., Nilsson, K., Reimer, J. & Nilsson, C., 2009, In: Parkinsonism & Related Disorders. 15, 9, p. 627-32 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  18. Published

    Presymptomatic generalized brain atrophy in frontotemporal dementia caused by CHMP2B mutation

    Rohrer, J. D., Ahsan, R. L., Isaacs, A. M., Nielsen, Jørgen Erik, Ostergaard, L., Scahill, R., Warren, J. D., Rossor, M. N., Fox, N. C., Johannsen, P. & FReJA Consortium, F. C., 2009, In: Dementia and Geriatric Cognitive Disorders. 27, 2, p. 182-6 4 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  19. Published

    Reduced CSF CART in dementia with Lewy bodies

    Schultz, K., Wiehager, S., Nilsson, K., Nielsen, Jørgen Erik, Lindquist, Suzanne Granhøj, Hjermind, L. E., Andersen, B. B., Wallin, A., Nilsson, C. & Petersén, A., 2009, In: Neuroscience Letters. 453, 2, p. 104-6 2 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  20. Published

    Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia

    Svenstrup, K., Bross, P., Koefoed, P., Hjermind, L. E., Eiberg, H., Born, A. P., Vissing, J., Gyllenborg, J., Nørremølle, A., Hasholt, L., Nielsen, J. E., Svenstrup, K., Bross, P., Koefoed, P., Hjermind, L. E., Eiberg, H., Born, A. P., Vissing, J., Gyllenborg, J., Nørremølle, A. & 2 others, Hasholt, L. & Nielsen, J. E., 2009, In: Journal of the Neurological Sciences. 284, 1-2, p. 90-5 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  21. 2010
  22. Published

    Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation

    Bech, S., Petersen, T., Nørremølle, Anne, Gjedde, Albert, Ehlers, L., Eiberg, Hans Rudolf Lytchoff, Hjermind, L. E., Hasholt, Lis Frydenreich, Lundorf, E. & Nielsen, Jørgen Erik, 2010, In: Parkinsonism & Related Disorders. 16, 1, p. 12-5 3 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  23. Published

    Reduced gluconeogenesis and lactate clearance in Huntington's disease

    Josefsen, K., Nielsen, S. M. B., Campos, A., Seifert, T., Hasholt, Lis Frydenreich, Nielsen, Jørgen Erik, Nørremølle, Anne, Skotte, Niels Henning, Secher, Niels H. & Quistorff, B., 1 Dec 2010, In: Neurobiology of Disease. 40, 3, p. 656-62 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  24. Published

    Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease

    Lesca, G., Boutry-Kryza, N., de Toffol, B., Milh, M., Steschenko, D., Lemesle-Martin, M., Maillard, L., Foletti, G., Rudolf, G., Nielsen, J. E., á Rogvi-Hansen, B., Erdal, J., Mancini, J., Thauvin-Robinet, C., M'Rrabet, A., Ville, D., Szepetowski, P., Raffo, E., Hirsch, E., Ryvlin, P. & 2 others, Calender, A. & Genton, P., 1 Sep 2010, In: Epilepsia. 51, 9, p. 1691-8 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  25. Published

    Behavioral variant of frontotemporal dementia mimicking Huntington's disease

    Nielsen, T. R., Bruhn, P., Nielsen, Jørgen Erik & Hjermind, L. E., 2010, In: International Psychogeriatrics. 22, 4, p. 674-7 3 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  26. Published

    Transthyretin as a potential CSF biomarker for Alzheimer's disease and dementia with Lewy bodies: effects of treatment with cholinesterase inhibitors

    Schultz, K., Nilsson, K., Nielsen, Jørgen Erik, Lindquist, Suzanne Granhøj, Hjermind, L. E., Andersen, B. B., Wallin, A., Nilsson, C. & Petersén, A., 2010, In: European Journal of Neurology. 17, 3, p. 456-60 4 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  27. Published

    Proteomic investigations of the ventriculo-lumbar gradient in human CSF

    Simonsen, A. H., Bech, S. B. W., Laursen, I., Salvesen, Lisette, Winge, K., Waldemar, Gunhild, Werdelin, L., Nielsen, Jørgen Erik, McGuire, J. N. & Hjermind, L. E., Aug 2010, In: Journal of Neuroscience Methods. 191, 2, p. 244-8 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  28. Published

    Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'

    Svenstrup, K., Giraud, G., Boespflug-Tanguy, O., Danielsen, E. R., Thomsen, C., Rasmussen, K., Law, I., Vogel, A., Stokholm, J., Crone, C., Hjermind, L. E., Nielsen, J. E., Svenstrup, K., Giraud, G., Boespflug-Tanguy, O., Danielsen, E. R., Thomsen, C., Rasmussen, K., Law, I., Vogel, A. & 4 others, Stokholm, J., Crone, C., Hjermind, L. E. & Nielsen, J. E., 1 Jun 2010, In: Journal of Neurology, Neurosurgery and Psychiatry. 81, 6, p. 666-72 13 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  29. Published

    Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

    Urwin, H., Authier, A., Nielsen, Jørgen Erik, Metcalf, D., Powell, C., Froud, K., Malcolm, D. S., Holm, I., Johannsen, P., Brown, J., Fisher, E. M. C., van der Zee, J., Bruyland, M., FReJA Consortium, F. C., Van Broeckhoven, C., Collinge, J., Brandner, S., Futter, C. & Isaacs, A. M., 2010, In: Human Molecular Genetics. 19, 11, p. 2228-38 10 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  30. Published

    FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

    Urwin, H., Josephs, K. A., Rohrer, J. D., Mackenzie, I. R., Neumann, M., Authier, A., Seelaar, H., Van Swieten, J. C., Brown, J. M., Johannsen, P., Nielsen, J. E., Holm, I. E., FReJA Consortium, Dickson, D. W., Rademakers, R., Graff-Radford, N. R., Parisi, J. E., Petersen, R. C., Hatanpaa, K. J., White, C. L. & 28 others, Weiner, M. F., Geser, F., Van Deerlin, V. M., Trojanowski, J. Q., Miller, B. L., Seeley, W. W., van der Zee, J., Kumar-Singh, S., Engelborghs, S., De Deyn, P. P., Van Broeckhoven, C., Bigio, E. H., Deng, H., Halliday, G. M., Kril, J. J., Munoz, D. G., Mann, D. M., Pickering-Brown, S. M., Doodeman, V., Adamson, G., Ghazi-Noori, S., Fisher, E. M. C., Holton, J. L., Revesz, T., Rossor, M. N., Collinge, J., Mead, S. & Isaacs, A. M., 2010, In: Acta Neuropathologica. 120, 1, p. 33-41 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  31. 2011
  32. Published

    The lrrk2 p.Gly2019Ser mutation is uncommon in a Danish cohort with various neurodegenerative disorders

    Bech, S., Nørremølle, Anne, Winge, K., Hasholt, Lis Frydenreich, Tommerup, Niels, Svenstrup, K., Nielsen, Jørgen Erik & Hjermind, L. E., 1 Jun 2011, In: Parkinsonism & Related Disorders. 17, 5, p. 398-9 2 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  33. Published

    Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations

    Gavassini, B. F., Carboni, N., Nielsen, Jørgen Erik, Danielsen, E. R., Thomsen, C., Svenstrup, K., Bello, L., Maioli, M. A., Marrosu, G., Ticca, A. F., Mura, M., Marrosu, M. G., Soraru, G., Angelini, C., Vissing, John & Pegoraro, E., Nov 2011, In: Muscle & Nerve. 44, 5, p. 703-9 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

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ID: 9689629