Search Results - Jørgen E. Nielsen

Refine Results
  1. 1
    Frontotemporal Dementia Caused by CHMP2B Mutations

    Frontotemporal Dementia Caused by CHMP2B Mutations by Adrian M. Isaacs, Peter Johannsen, Ida E. Holm, Jørgen E. Nielsen, Freja Consortium

    Published 2011
    Get full text
    Revisão
    Save to List
    Saved in:
  2. 2
    The V471A Polymorphism in Autophagy-Related Gene ATG7 Modifies Age at Onset Specifically in Italian Huntington Disease Patients

    The V471A Polymorphism in Autophagy-Related Gene ATG7 Modifies Age at Onset Specifically in Italian Huntington Disease Patients by Silke Metzger, Carolin Walter, Olaf Rieß, Raymund A.C. Roos, Jørgen E. Nielsen, David Craufurd, Huu Phuc Nguyen

    Published 2013
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    Polyglutamine Ataxias in Denmark: Incidence and Relative Frequencies of SCA1, 2, 3, 6, 7, 17 and DRPLA in a Nationwide Cohort

    Polyglutamine Ataxias in Denmark: Incidence and Relative Frequencies of SCA1, 2, 3, 6, 7, 17 and DRPLA in a Nationwide Cohort by Rosa Dam Waerling, Jenny Blechingberg, Jesper Kayser, Suzanne Granhøj Lindquist, Tua Vinther‐Jensen, Jørgen E. Nielsen, Morten Dunø

    Published 2025
    Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters

    Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters by Nanna Cornelius, Jonathan H. Wardman, Iain P. Hargreaves, Viruna Neergheen, Anne Sigaard Bie, Zeynep Tümer, Jørgen E. Nielsen, Troels T. Nielsen

    Published 2017
    Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    A clinical classification acknowledging neuropsychiatric and cognitive impairment in Huntington’s disease

    A clinical classification acknowledging neuropsychiatric and cognitive impairment in Huntington’s disease by Tua Vinther‐Jensen, Ida Unmack Larsen, Lena E. Hjermind, Esben Budtz‐Jørgensen, Troels T. Nielsen, Anne Nørremølle, Jørgen E. Nielsen, Asmus Vogel

    Published 2014
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    Selected CSF biomarkers indicate no evidence of early neuroinflammation in Huntington disease

    Selected CSF biomarkers indicate no evidence of early neuroinflammation in Huntington disease by Tua Vinther‐Jensen, Lars Börnsen, Esben Budtz‐Jørgensen, Cecilie Ammitzbøll, Ida Unmack Larsen, Lena E. Hjermind, Finn Sellebjerg, Jørgen E. Nielsen

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1

    Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1 by Carlota Pires, Benjamin Schmid, Carina Petræus, Anna Poon, Natakarn Nimsanor, Troels T. Nielsen, Gunhild Waldemar, Lena E. Hjermind, Jørgen E. Nielsen, Poul Hyttel, Kristine Freude

    Published 2016
    Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    Glutamate-glutamine homeostasis is perturbed in neurons and astrocytes derived from patient iPSC models of frontotemporal dementia

    Glutamate-glutamine homeostasis is perturbed in neurons and astrocytes derived from patient iPSC models of frontotemporal dementia by Blanca I. Aldana, Yu Zhang, Pia Jensen, Abinaya Chandrasekaran, Sofie K. Christensen, Troels T. Nielsen, Jørgen E. Nielsen, Poul Hyttel, Martin R. Larsen, Helle S. Waagepetersen, Kristine Freude

    Published 2020
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    No difference between alfacalcidol and paricalcitol in the treatment of secondary hyperparathyroidism in hemodialysis patients: a randomized crossover trial

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

    Published 2011
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  10. 10
    Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology

    Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology by Emma L. Clayton, Sarah Mizielinska, James R. Edgar, Troels T. Nielsen, Sarah Marshall, Frances E. Norona, Miranda Robbins, Hana Damirji, Ida E. Holm, Peter Johannsen, Jørgen E. Nielsen, Emmanuel A. Asante, John Collinge, Adrian M. Isaacs

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    Neurons derived from sporadic Alzheimer’s disease iPSCs reveal elevated TAU hyperphosphorylation, increased amyloid levels, and GSK3B activation

    Neurons derived from sporadic Alzheimer’s disease iPSCs reveal elevated TAU hyperphosphorylation, increased amyloid levels, and GSK3B activation by Anna Ochałek, Balázs Mihalik, Hasan X. Avci, Abinaya Chandrasekaran, Annamária Téglási, István Bock, Maria Lo Giudice, Zsuzsanna Táncos, Kinga Molnár, Lajos László, Jørgen E. Nielsen, Bjørn Holst, Kristine Freude, Poul Hyttel, Julianna Kobolák, András Dinnyés

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

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

    Published 2014
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  13. 13
    Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

    Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia by Gaia Skibinski, Nick Parkinson, Jeremy Brown, Lisa Chakrabarti, Sarah L Lloyd, Holger Hummerich, Jørgen E. Nielsen, John R. Hodges, Maria Grazia Spillantini, Tove Thusgaard, Sebastian Brandner, Arne Brun, Martin N. Rossor, Anders Gade, Peter Johannsen, Sven Asger Sørensen, Susanne Gydesen, Elizabeth Fisher, John Collinge

    Published 2005
    Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

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

    Published 2010
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  15. 15
    A Swedish family with de novo α-synuclein A53T mutation: Evidence for early cortical dysfunction

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

    Published 2009
    Get full text
    Artigo
    Save to List
    Saved in:
  16. 16
    The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway

    The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway by Hsien-Yang Lee, Ying Xu, Yong Huang, Andrew H. Ahn, Georg Auburger, Massimo Pandolfo, Hubert Kwieciński, David A. Grimes, Anthony E. Lang, Jørgen E. Nielsen, Yuri Averyanov, Serenella Servidei, Andrzej Friedman, Patrick Van Bogaert, Marc Abramowicz, Michiko Kimura Bruno, Beatrice F. Sorensen, Ling Tang, Ying‐Hui Fu, Louis J. Ptáček

    Published 2004
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  17. 17
    Patient iPSC-Derived Neurons for Disease Modeling of Frontotemporal Dementia with Mutation in CHMP2B

    Patient iPSC-Derived Neurons for Disease Modeling of Frontotemporal Dementia with Mutation in CHMP2B by Yu Zhang, Benjamin Schmid, Nanett Kvist Nikolaisen, Mikkel A. Rasmussen, Blanca I. Aldana, Mikkel Agger, Kirstine Calløe, Tina C. Stummann, Hjalte M. Larsen, Troels T. Nielsen, Jinrong Huang, Fengping Xu, Xin Liu, Lars Bolund, Morten Meyer, Lasse K. Bak, Helle S. Waagepetersen, Yonglun Luo, Jørgen E. Nielsen, Bjørn Holst, Christian Clausen, P. Hyttel, Kristine Freude

    Published 2017
    Get full text
    Artigo
    Save to List
    Saved in:
  18. 18
    A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer’s disease

    A proteomics analysis of 5xFAD mouse brain regions reveals the lysosome-associated protein Arl8b as a candidate biomarker for Alzheimer’s disease by Annett Boeddrich, Christian Haenig, Nancy Neuendorf, Eric Blanc, Andranik Ivanov, Marieluise Kirchner, Philipp Schleumann, Irem Bayraktaroğlu, Matthias Richter, Christine Mirjam Molenda, Anje Sporbert, Martina Zenkner, Sigrid Schnoegl, Christin Suenkel, Luisa‐Sophie Schneider, Agnieszka Rybak‐Wolf, Bianca Kochnowsky, Lauren M. Byrne, Edward J. Wild, Jørgen E. Nielsen, Gunnar Dittmar, Oliver Peters, Dieter Beule, Erich E. Wanker

    Published 2023
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  19. 19
    Golgi fragmentation – One of the earliest organelle phenotypes in Alzheimer’s disease neurons

    Golgi fragmentation – One of the earliest organelle phenotypes in Alzheimer’s disease neurons by Henriette Haukedal, Giulia I. Corsi, Veerendra P. Gadekar, Nadezhda T. Doncheva, Shekhar Kedia, Noortje de Haan, Abinaya Chandrasekaran, Pia Jensen, Pernille Schiønning, Sarah Vallin, Frederik Ravnkilde Marlet, Anna Poon, Carlota Pires, Fawzi Khoder Agha, Hans H. Wandall, Susanna Cirera, Anja Hviid Simonsen, Troels T. Nielsen, Jørgen E. Nielsen, P. Hyttel, Ravi Muddashetty, Blanca I. Aldana, Jan Gorodkin, Deepak Nair, Morten Meyer, Martin R. Larsen, Kristine Freude

    Published 2023
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  20. 20
    Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia

    Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia by Aurélie Bussy, Jake Levy, Tristin Best, Raihaan Patel, Lani Cupo, Tim Van Langenhove, Jørgen E. Nielsen, Yolande A.L. Pijnenburg, María Landqvist Waldö, Anne M. Remes, Matthias L. Schroeter, Isabel Santana, Florence Pasquier, Markus Otto, Adrian Danek, Johannes Levin, Isabelle Le Ber, Rik Vandenberghe, Matthis Synofzik, Fermín Moreno, Alexandre de Mendonça, Raquel Sánchez‐Valle, Robert Laforce, Tobias Langheinrich, Alexander Gerhard, Caroline Graff, Christopher Butler, Sandro Sorbi, Lize C. Jiskoot, Harro Seelaar, John C. van Swieten, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, Pietro Tiraboschi, Daniela Galimberti, Barbara Borroni, James B. Rowe, Martina Bocchetta, Jonathan D. Rohrer, Gabriel A. Devenyi, M. Mallar Chakravarty, Simon Ducharme

    Published 2023
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: