Jørgen Erik Nielsen

Jørgen Erik Nielsen

Clinical Professor


  1. 1996
  2. Published

    Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish family. / Nielsen, Jørgen Erik; Sørensen, Sven Asger; Hasholt, Lis Frydenreich; Nørremølle, Anne.

    In: Movement Disorders, Vol. 11, No. 5, 1996, p. 533-541.

    Research output: Contribution to journalJournal articleResearchpeer-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, Niels; Jensen, Klaus Møller-Ernst; Lund, L; Nielsen, J E; Djurhuus, Jens Christian; Poulsen, S S; Nexø, Ebba; Poulsen, Steen Seier.

    In: B J U International (Print), Vol. 89, No. 6, 01.04.2002, p. 583-90.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. 2004
  6. Published

    Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. / Nielsen, Jørgen Erik; Johnson, B; Koefoed, Pernille; 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, O.B.; Hasholt, Lis Frydenreich; Sørensen, Sven Asger.

    In: European Journal of Neurology, Vol. 11, No. 12, 2004, p. 817-824.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection. / Nielsen, Jørgen E; Koefoed, Pernille; Kjaergaard, Susanne; Jensen, Lisa Neerup; Nørremølle, Anne; Hasholt, Lis.

    In: Prenatal Diagnosis, Vol. 24, No. 5, 2004, p. 363-6.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. 2005
  9. Published

    Reduced regional cerebral blood flow in SPG4-linked hereditary spastic paraplegia. / Scheuer, Kristin H; Nielsen, Jørgen E; Krabbe, Katja; Simonsen, Carina; Koefoed, Pernille; Sørensen, Sven A; Gade, Anders; Paulson, Olaf B; Law, Ian.

    In: Journal of the Neurological Sciences, Vol. 235, No. 1-2, 2005, p. 23-32.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. 2008
  11. Published

    Cortical volumes and atrophy rates in FTD-3 CHMP2B mutation carriers and related non-carriers. / Eskildsen, Simon F; Østergaard, Lasse R; Rodell, Anders B; Østergaard, Leif; Nielsen, Jørgen E; Isaacs, Adrian M; Johannsen, Peter.

    In: NeuroImage, Vol. 45, No. 3, 2008, p. 713-21.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    [Hereditary Parkinson disease. The Danish Society of Movement Disorders]. / Hjermind, L.E.; Nielsen, Jørgen Erik.

    In: Ugeskrift for læger, Vol. 170, No. 12, 2008, p. 1016-.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. 2009
  14. Published

    4p16.3 haplotype modifying age at onset of Huntington disease. / Nørremølle, A; Budtz-Jørgensen, E; Fenger, K; Nielsen, Jørgen Erik; Sørensen, S A; Hasholt, L.

    In: Clinical Genetics, Vol. 75, No. 3, 2009, p. 244-50.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction. / Puschmann, Andreas; Ross, Owen A; Vilariño-Güell, Carles; Lincoln, Sarah J; Kachergus, Jennifer M; Cobb, Stephanie A; Lindquist, Suzanne G; Nielsen, Jørgen Erik; Wszolek, Zbigniew K; Farrer, Matthew; Widner, Håkan; van Westen, Danielle; Hägerström, Douglas; Markopoulou, Katerina; Chase, Bruce A; Nilsson, Karin; Reimer, Jan; Nilsson, Christer.

    In: Parkinsonism & Related Disorders, Vol. 15, No. 9, 2009, p. 627-32.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    Genetic testing in familial AD and FTD: mutation and phenotype spectrum in a Danish cohort. / Lindquist, S G; Schwartz, M; Batbayli, M; Waldemar, G; Nielsen, Jørgen Erik.

    In: Clinical Genetics, Vol. 76, No. 2, 2009, p. 205-9.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Huntington's disease does not appear to increase the risk of diabetes mellitus. / Boesgaard, T W; Nielsen, Troels Tolstrup; Josefsen, Knud Elnegaard; Hansen, T; Jørgensen, T; Pedersen, O; Nørremølle, A; Nielsen, Jørgen Erik; Hasholt, L.

    In: Journal of Neuroendocrinology, Vol. 21, No. 9, 2009, p. 770-6.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. Published

    Presymptomatic generalized brain atrophy in frontotemporal dementia caused by CHMP2B mutation. / Rohrer, Jonathan D; Ahsan, R Laila; Isaacs, Adrian M; Nielsen, Jørgen Erik; Ostergaard, Leif; Scahill, Rachael; Warren, Jason D; Rossor, Martin N; Fox, Nick C; Johannsen, Peter; FReJA Consortium.

    In: Dementia and Geriatric Cognitive Disorders, Vol. 27, No. 2, 2009, p. 182-6.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Reduced CSF CART in dementia with Lewy bodies. / Schultz, Kristofer; Wiehager, Sara; Nilsson, Karin; Nielsen, Jørgen E; Lindquist, Suzanne G; Hjermind, Lena E; Andersen, Birgitte B; Wallin, Anders; Nilsson, Christer; Petersén, Asa.

    In: Neuroscience Letters, Vol. 453, No. 2, 2009, p. 104-6.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. / Svenstrup, Kirsten; Bross, Peter; Koefoed, Pernille; Hjermind, Lena E; Eiberg, Hans; Born, A Peter; Vissing, John; Gyllenborg, Jesper; Nørremølle, Anne; Hasholt, Lis; Nielsen, Jørgen E; Svenstrup, Kirsten; Bross, Peter; Koefoed, Pernille; Hjermind, Lena E; Eiberg, Hans; Born, A Peter; Vissing, John; Gyllenborg, Jesper; Nørremølle, Anne; Hasholt, Lis; Nielsen, Jørgen E.

    In: Journal of the Neurological Sciences, Vol. 284, No. 1-2, 2009, p. 90-5.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. 2010
  22. Published

    Behavioral variant of frontotemporal dementia mimicking Huntington's disease. / Nielsen, T Rune; Bruhn, Peter; Nielsen, Jørgen E; Hjermind, Lena E.

    In: International Psychogeriatrics, Vol. 22, No. 4, 2010, p. 674-7.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. / Urwin, Hazel; Authier, Astrid; Nielsen, Jørgen Erik; Metcalf, Daniel; Powell, Caroline; Froud, Kristina; Malcolm, Denise S; Holm, Ida; Johannsen, Peter; Brown, Jeremy; Fisher, Elizabeth M C; van der Zee, Julie; Bruyland, Marc; FReJA Consortium; Van Broeckhoven, Christine; Collinge, John; Brandner, Sebastian; Futter, Clare; Isaacs, Adrian M.

    In: Human Molecular Genetics, Vol. 19, No. 11, 2010, p. 2228-38.

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. / Urwin, Hazel; Josephs, Keith A; Rohrer, Jonathan D; Mackenzie, Ian R; Neumann, Manuela; Authier, Astrid; Seelaar, Harro; Van Swieten, John C; Brown, Jeremy M; Johannsen, Peter; Nielsen, Jørgen Erik; Holm, Ida E; FReJA Consortium; Dickson, Dennis W; Rademakers, Rosa; Graff-Radford, Neill R; Parisi, Joseph E; Petersen, Ronald C; Hatanpaa, Kimmo J; White, Charles L; Weiner, Myron F; Geser, Felix; Van Deerlin, Vivianna M; Trojanowski, John Q; Miller, Bruce L; Seeley, William W; van der Zee, Julie; Kumar-Singh, Samir; Engelborghs, Sebastiaan; De Deyn, Peter P; Van Broeckhoven, Christine; Bigio, Eileen H; Deng, Han-Xiang; Halliday, Glenda M; Kril, Jillian J; Munoz, David G; Mann, David M; Pickering-Brown, Stuart M; Doodeman, Valerie; Adamson, Gary; Ghazi-Noori, Shabnam; Fisher, Elizabeth M C; Holton, Janice L; Revesz, Tamas; Rossor, Martin N; Collinge, John; Mead, Simon; Isaacs, Adrian M.

    In: Acta Neuropathologica, Vol. 120, No. 1, 2010, p. 33-41.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. Published

    Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation. / Bech, Sara; Petersen, Thor; Nørremølle, Anne; Gjedde, Albert; Ehlers, Lise; Eiberg, Hans; Hjermind, Lena E; Hasholt, Lis; Lundorf, Erik; Nielsen, Jørgen E.

    In: Parkinsonism & Related Disorders, Vol. 16, No. 1, 2010, p. 12-5.

    Research output: Contribution to journalJournal articleResearchpeer-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, S G; Hjermind, Lena Elisabeth; Andersen, B B; Wallin, A; Nilsson, C; Petersén, A.

    In: European Journal of Neurology, Vol. 17, No. 3, 2010, p. 456-60.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'. / Svenstrup, Kirsten; Giraud, Geneviève; Boespflug-Tanguy, Odile; Danielsen, Else R; Thomsen, Carsten; Rasmussen, Kirsten; Law, Ian; Vogel, Asmus; Stokholm, Jette; Crone, Clarissa; Hjermind, Lena E; Nielsen, Jørgen E; Svenstrup, Kirsten; Giraud, Geneviève; Boespflug-Tanguy, Odile; Danielsen, Else R; Thomsen, Carsten; Rasmussen, Kirsten; Law, Ian; Vogel, Asmus; Stokholm, Jette; Crone, Clarissa; Hjermind, Lena E; Nielsen, Jørgen E.

    In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 81, No. 6, 01.06.2010, p. 666-72.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Proteomic investigations of the ventriculo-lumbar gradient in human CSF. / Simonsen, Anja Hviid; Bech, Sara Brynhild Winther; Laursen, Inga; Salvesen, Lisette; Winge, Kristian; Waldemar, Gunhild; Werdelin, Lene; Nielsen, Jørgen Erik; McGuire, James Norton; Hjermind, Lena Elisabeth.

    In: Journal of Neuroscience Methods, Vol. 191, No. 2, 08.2010, p. 244-8.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. / Lesca, Gaetan; Boutry-Kryza, Nadia; de Toffol, Bertrand; Milh, Mathieu; Steschenko, Dominique; Lemesle-Martin, Martine; Maillard, Louis; Foletti, Giovanni; Rudolf, Gabrielle; Nielsen, Jørgen Erik; á Rogvi-Hansen, Bjarke; Erdal, Jesper; Mancini, Josette; Thauvin-Robinet, Christel; M'Rrabet, Amel; Ville, Dorothée; Szepetowski, Pierre; Raffo, Emmanuel; Hirsch, Edouard; Ryvlin, Philippe; Calender, Alain; Genton, Pierre.

    In: Epilepsia, Vol. 51, No. 9, 01.09.2010, p. 1691-8.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published

    Reduced gluconeogenesis and lactate clearance in Huntington's disease. / Josefsen, Knud; Nielsen, Signe M B; Campos, André; Seifert, Thomas; Hasholt, Lis; Nielsen, Jørgen E; Nørremølle, Anne; Skotte, Niels H; Secher, Niels H; Quistorff, Bjørn.

    In: Neurobiology of Disease, Vol. 40, No. 3, 01.12.2010, p. 656-62.

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. 2011
  32. Published

    Huntington's disease : effect of memantine on FDG-PET brain metabolism? / Hjermind, Lena Elisabeth; Law, Ian; Jønch, Aia; Stokholm, Jette; Nielsen, Jørgen Erik.

    In: The Journal of Neuropsychiatry and Clinical Neurosciences, Vol. 23, No. 2, 2011, p. 206-10.

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published

    Observing Huntington's disease : the European Huntington's Disease Network's REGISTRY. / Orth, Michael; Handley, O J; Schwenke, C; Dunnett, S; Wild, E J; Tabrizi, S J; Landwehrmeyer, G B; Hasholt, Lis Frydenreich; Hjermind, Lena Elisabeth; Nørremølle, Anne; Nielsen, Jørgen Erik; European Huntington's Disease Network.

    In: The Egyptian Journal of Neurology, Psychiatry, and Neurosurgery, Vol. 82, No. 12, 2011, p. 1409-12.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. Published

    Frontotemporal dementia caused by CHMP2B mutations. / Isaacs, A M; Johannsen, P; Holm, I; Nielsen, J E; FReJA Consortium.

    In: Current Alzheimer Research, Vol. 8, No. 3, 05.2011, p. 246-51.

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    The lrrk2 p.Gly2019Ser mutation is uncommon in a Danish cohort with various neurodegenerative disorders. / Bech, Sara; Nørremølle, Anne; Winge, Kristian; Hasholt, Lis; Tommerup, Niels; Svenstrup, Kirsten; Nielsen, Jørgen E; Hjermind, Lena E.

    In: Parkinsonism & Related Disorders, Vol. 17, No. 5, 01.06.2011, p. 398-9.

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Discrepancies in reporting the CAG repeat lengths for Huntington's disease. / Quarrell, Oliver W; Handley, Olivia; O'Donovan, Kirsty; Dumoulin, Christine; Ramos-Arroyo, Maria; Biunno, Ida; Bauer, Peter; Kline, Margaret; Landwehrmeyer, G Bernhard; Hjermind, Lena Elisabeth; Hasholt, Lis Frydenreich; Nørremølle, Anne; Nielsen, Jørgen Erik; European Huntington’s Disease Network.

    In: European Journal of Human Genetics, Vol. 20, No. 1, 08.2011, p. 20-6.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy. / Svenstrup, K; Møller, R S; Christensen, J; Budtz-Jørgensen, E; Nielsen, Mette Gilling; Nielsen, J E.

    In: European journal of neurology : the official journal of the European Federation of Neurological Societies, Vol. 18, No. 9, 01.09.2011, p. 1197-9.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. Published

    No difference between alfacalcidol and paricalcitol in the treatment of secondary hyperparathyroidism in hemodialysis patients: a randomized crossover trial. / Hansen, Ditte; Rasmussen, Knud; Danielsen, Henning; Meyer-Hofmann, Helmut; Bacevicius, Egidijus; Lauridsen, Thomas Guldager; Madsen, Jens Kristian; Tougaard, Birgitte G; Marckmann, Peter; Thye-Roenn, Peter; Nielsen, Jørgen Erik; Kreiner, Svend; Brandi, Lisbet.

    In: Kidney International, Vol. 80, No. 8, 10.2011, p. 841-850.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published

    Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. / Gavassini, Bruno F; Carboni, Nicola; Nielsen, Jørgen E; Danielsen, Else R; Thomsen, Carsten; Svenstrup, Kirsten; Bello, Luca; Maioli, Maria Antonietta; Marrosu, Giovanni; Ticca, Anna Filomena; Mura, Marco; Marrosu, Maria Giovanna; Soraru, Gianni; Angelini, Corrado; Vissing, John; Pegoraro, Elena.

    In: Muscle & Nerve, Vol. 44, No. 5, 11.2011, p. 703-9.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. 2012
  41. Published

    Amyloid-related biomarkers and axonal damage proteins in parkinsonian syndromes. / Bech, Sara; Hjermind, Lena E; Salvesen, Lisette; Nielsen, Jørgen E; Heegaard, Niels H H; Jørgensen, Henrik L; Rosengren, Lars; Blennow, Kaj; Zetterberg, Henrik; Winge, Kristian.

    In: Parkinsonism & Related Disorders, Vol. 18, No. 1, 2012, p. 69-72.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. / Lee, J-M; Ramos, E M; Lee, J-H; Gillis, T; Mysore, J S; Hayden, M R; Warby, S C; Morrison, P; Nance, M; Ross, C A; Margolis, R L; Squitieri, F; Orobello, S; Di Donato, S; Gomez-Tortosa, E; Ayuso, C; Suchowersky, O; Trent, R J A; McCusker, E; Novelletto, A; Frontali, M; Jones, R; Ashizawa, T; Frank, S; Saint-Hilaire, M H; Hersch, S M; Rosas, H D; Lucente, D; Harrison, M B; Zanko, A; Abramson, R K; Marder, K; Sequeiros, J; Paulsen, J S; Landwehrmeyer, G B; Myers, R H; MacDonald, M E; Gusella, J F; Hasholt, Lis Frydenreich; Nørremølle, Anne; Nielsen, Jørgen Erik; PREDICT-HD study of the Huntington Study Group (HSG).

    In: Neurology, Vol. 78, No. 10, 03.2012, p. 690-5.

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published

    Presymptomatic cerebral blood flow changes in CHMP2B mutation carriers of familial frontotemporal dementia (FTD-3), measured with MRI. / Lunau, Line Andersen; Mouridsen, Kim; Rodell, Anders; Ostergaard, Leif; Nielsen, Jørgen Erik; Isaacs, Adrian; Johannsen, Peter; The FReJA Consortium.

    In: BMJ Open, Vol. 2, No. 2, 03.2012.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published

    Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference. / Nielsen, Troels Tolstrup; Mizielinska, Sarah; Hasholt, Lis; Isaacs, Adrian M; Nielsen, Jørgen E; the FReJA Consortium.

    In: Journal of Gene Medicine, Vol. 14, No. 8, 08.2012, p. 521-529.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    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. / Nielsen, Troels Tolstrup; Mardosiene, Skirmante; Løkkegaard, Annemette; Stokholm, Jette; Ehrenfels, Susanne; Bech, Sara; Friberg, Lars; Nielsen, Jens Kellberg; Nielsen, Jørgen E.

    In: B M C Neurology, Vol. 12, 08.2012, p. 73.

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published

    The DJ-1 concentration in cerebrospinal fluid does not differentiate among parkinsonian syndromes. / Salvesen, Lisette; Bech, Sara; Lokkegaard, Annemette; Hjermind, Lena E; Nielsen, Jørgen E; Pakkenberg, Bente; Tanassi, Julia T; Heegaard, Niels H H; Winge, Kristian.

    In: Parkinsonism & Related Disorders, Vol. 18, No. 7, 08.2012, p. 899-901.

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. Published

    Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy. / Jønch, Aia E; Danielsen, Else R; Thomsen, Carsten; Meden, Per; Svenstrup, Kirsten; Nielsen, Jørgen Erik.

    In: B M C Neurology, Vol. 12, No. 108, 26.09.2012.

    Research output: Contribution to journalJournal articleResearchpeer-review

  48. Published

    ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia. / Nielsen, Troels Tolstrup; Svenstrup, Kirsten; Budtz-Jørgensen, Esben; Eiberg, Hans; Hasholt, Lis; Nielsen, Jørgen E.

    In: Journal of the Neurological Sciences, Vol. 321, No. 1-2, 10.2012, p. 100-2.

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. Published

    Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9). / Eiberg, H; Hansen, L; Korbo, L; Nielsen, Inge-Merete; Svenstrup, K; Bech, S; Pinborg, Lh; Friberg, L; Hjermind, LE; Olsen, Or; Nielsen, Jørgen Erik.

    In: Clinical Genetics, Vol. 82, No. 3, 11.2012, p. 256-63.

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. 2013
  51. Published

    Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2. / Vinther-Jensen, Tua; Ek, Jakob; Duno, Morten; Skovby, Flemming; Hjermind, Lena E; Nielsen, Jørgen E; Nielsen, Troels Tolstrup.

    In: European Journal of Human Genetics, Vol. 21, No. 6, 2013, p. 626-9.

    Research output: Contribution to journalJournal articleResearchpeer-review

  52. Published

    Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers : A longitudinal prospective study. / Stokholm, Jette; Teasdale, Thomas W; Johannsen, Peter; Nielsen, Jorgen E; Nielsen, Troels Tolstrup; Isaacs, Adrian; Brown, Jerry M; Gade, Anders; and the Frontotemporal dementia Research in Jutland Association (FReJA) consortium.

    In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 84, No. 2, 02.2013, p. 170-176.

    Research output: Contribution to journalJournal articleResearchpeer-review

  53. Published

    Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. / Lindquist, Sg; Duno, M; Batbayli, M; Puschmann, A; Braendgaard, H; Mardosiene, S; Svenstrup, K; Pinborg, Lh; Vestergaard, K; Hjermind, LE; Stokholm, J; Andersen, Bb; Johannsen, P; Nielsen, Jørgen Erik.

    In: Clinical Genetics, Vol. 83, No. 3, 03.2013, p. 279-283.

    Research output: Contribution to journalJournal articleResearchpeer-review

  54. Published

    The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. / Metzger, Silke; Walter, Carolin; Riess, Olaf; Roos, Raymund A C; Nielsen, Jørgen E; Craufurd, David; Nguyen, Huu Phuc; REGISTRY Investigators of the European Huntington’s Disease Network.

    In: PLOS ONE, Vol. 8, No. 7, 07.2013, p. e68951.

    Research output: Contribution to journalJournal articleResearchpeer-review

  55. Published

    Antisense gene silencing : therapy for neurodegenerative disorders? / Nielsen, Troels T; Nielsen, Jørgen E.

    In: Genes, Vol. 4, No. 3, 10.09.2013, p. 457-84.

    Research output: Contribution to journalJournal articleResearchpeer-review

  56. 2014
  57. Published

    Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease. / Petersen, Maria Hvidberg; Budtz-Jørgensen, Esben; Sørensen, Sven Asger; Nielsen, Jørgen Erik; Hjermind, Lena Elisabeth; Vinther-Jensen, Tua; Nielsen, Signe Marie Borch; Nørremølle, Anne.

    In: Mitochondrion, Vol. 17, 2014, p. 14-21.

    Research output: Contribution to journalJournal articleResearchpeer-review

  58. Published

    Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort. / Nielsen, T T; Svenstrup, K; Duno, M; Nielsen, J E.

    In: Spinal Cord, Vol. 52, No. 1, 01.2014, p. 77-79.

    Research output: Contribution to journalJournal articleResearchpeer-review

  59. Published

    Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy. / Mosbech, Mai-Britt; Olsen, Anne S B; Neess, Ditte; Ben-David, Oshrit; Klitten, Laura L; Larsen, Jan; Sabers, Anne; Vissing, John; Nielsen, Jørgen E; Hasholt, Lis; Klein, Andres D; Tsoory, Michael M; Hjalgrim, Helle; Tommerup, Niels; Futerman, Anthony H; Møller, Rikke S; Færgeman, Nils J.

    In: Annals of Clinical and Translational Neurology, Vol. 1, No. 2, 28.02.2014, p. 88-98.

    Research output: Contribution to journalJournal articleResearchpeer-review

  60. Published

    CYP7B1 : novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A. / Roos, P; Svenstrup, K; Danielsen, E R; Thomsen, C; Nielsen, J E.

    In: Acta Neurologica Scandinavica, Vol. 129, No. 5, 05.2014, p. 330-4.

    Research output: Contribution to journalJournal articleResearchpeer-review

  61. Published

    Anlægsbærere for fragilt X-syndrom kan udvise et bredt spektrum af kliniske manifestationer. / Jønch, Aia Elise; Grønskov, Karen; Carlsen Lunding, Jytte Merete; Nielsen, Jørgen E; Brøndum-Nielsen, Karen.

    In: Ugeskrift for Laeger, Vol. 176, No. 26, V02140099, 23.06.2014, p. 2-6.

    Research output: Contribution to journalJournal articleResearchpeer-review

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