Rezultati - Jørgen E. Nielsen

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  1. 1
    Frontotemporal Dementia Caused by CHMP2B Mutations

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

    Izdano 2011
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  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 od Silke Metzger, Carolin Walter, Olaf Rieß, Raymund A.C. Roos, Jørgen E. Nielsen, David Craufurd, Huu Phuc Nguyen

    Izdano 2013
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  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 od Rosa Dam Waerling, Jenny Blechingberg, Jesper Kayser, Suzanne Granhøj Lindquist, Tua Vinther‐Jensen, Jørgen E. Nielsen, Morten Dunø

    Izdano 2025
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  4. 4
    Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1

    Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1 od Anna Poon, Benjamin Schmid, Carlota Pires, Troels T. Nielsen, Lena E. Hjermind, Jørgen E. Nielsen, Bjørn Holst, Poul Hyttel, Kristine Freude

    Izdano 2016
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  5. 5
    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 od Nanna Cornelius, Jonathan H. Wardman, Iain P. Hargreaves, Viruna Neergheen, Anne Sigaard Bie, Zeynep Tümer, Jørgen E. Nielsen, Troels T. Nielsen

    Izdano 2017
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  6. 6
    A clinical classification acknowledging neuropsychiatric and cognitive impairment in Huntington’s disease

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

    Izdano 2014
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  7. 7
    Selected CSF biomarkers indicate no evidence of early neuroinflammation in Huntington disease

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

    Izdano 2016
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  8. 8
    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 od 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

    Izdano 2016
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  9. 9
    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 od 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

    Izdano 2020
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  10. 10
    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 od 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

    Izdano 2011
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  11. 11
    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 od 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

    Izdano 2015
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  12. 12
    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 od 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

    Izdano 2017
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  13. 13
    Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

    Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy od 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

    Izdano 2014
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  14. 14
    Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

    Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia od 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

    Izdano 2005
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  15. 15
    Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

    Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations od 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

    Izdano 2010
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  16. 16
    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 od 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

    Izdano 2009
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  17. 17
    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 od 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

    Izdano 2004
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  18. 18
    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 od 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

    Izdano 2017
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  19. 19
    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 od 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

    Izdano 2023
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  20. 20
    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 od 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

    Izdano 2023
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