Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Jørgen Erik, Nielsen"'
Autor:
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 Tolstrup Nielsen, Jørgen Erik Nielsen, Poul Hyttel, Ravi Muddashetty, Blanca I. Aldana, Jan Gorodkin, Deepak Nair, Morten Meyer, Martin Røssel Larsen, Kristine Freude
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
Alzheimer’s disease (AD) is the most common cause of dementia, with no current cure. Consequently, alternative approaches focusing on early pathological events in specific neuronal populations, besides targeting the well-studied amyloid beta (Aβ)
Externí odkaz:
https://doaj.org/article/4d6bdc2e3ad742debbe8defab51f61f4
Autor:
Anders Toft, Simon Sjödin, Anja Hviid Simonsen, Patrick Ejlerskov, Peter Roos, Christian Sandøe Musaeus, Emil Elbæk Henriksen, Troels Tolstrup Nielsen, Ann Brinkmalm, Kaj Blennow, Henrik Zetterberg, Jørgen Erik Nielsen
Publikováno v:
Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 15, Iss 1, Pp n/a-n/a (2023)
Abstract Introduction Increasing evidence implicates proteostatic dysfunction as an early event in the development of frontotemporal dementia (FTD). This study aimed to explore potential cerebrospinal fluid (CSF) biomarkers associated with the proteo
Externí odkaz:
https://doaj.org/article/1fe201e7a3b54b478027a96c40786b76
Autor:
Birna Ásbjörnsdóttir, Otto Mølby Henriksen, Suzanne Lindquist, Lisbeth Birk Møller, Annette Sidaros, Jørgen Erik Nielsen
Publikováno v:
BMJ case reports. 15(3)
Biallelic pathogenic variants in theANO10gene cause spinocerebellar ataxia recessive type 10. We report two patients, both compound heterozygous forANO10variants, including two novel variants. Both patients had onset of cerebellar ataxia in adulthood
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce1ae335983ce530987998c0d8f3f84d
https://pubmed.ncbi.nlm.nih.gov/35256372
https://pubmed.ncbi.nlm.nih.gov/35256372
Autor:
Christian Sandøe Musaeus, Jette Stokholm Pedersen, Troels Wesenberg Kjær, Peter Johannsen, Gunhild Waldemar, Maria Joy Normann Haverberg, Theis Bacher, Jørgen Erik Nielsen, Peter Roos, The FReJA Consortium, S Gydesen, J Brown, AM Isaacs, J Collinge, A Gade, E Englund, E Fisher, TT Nielsen, T Thusgaard, I Holm
Publikováno v:
Frontiers in Aging Neuroscience, Vol 13 (2021)
A rare cause of inherited frontotemporal dementia (FTD) is a mutation in the CHMP2B gene on chromosome 3 leading to the autosomal dominantly inherited FTD (CHMP2B-FTD). Since CHMP2B-FTD is clinically well-characterized, and patients show a distinct p
Externí odkaz:
https://doaj.org/article/cc78cd044125440b9c28ce0618e30014
Autor:
Birna Ásbjörnsdóttir, Christian Sandøe Musaeus, Marie NN Hellem, Tua Vinther-Jensen, Lena E Hjermind, Anja Hviid Simonsen, Marina R von Essen, Finn Sellebjerg, Jørgen Erik Nielsen
Publikováno v:
D: Wet biomarkers.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df9f531b0b13ff67910bfe8707f560a3
https://doi.org/10.1136/jnnp-2022-ehdn.71
https://doi.org/10.1136/jnnp-2022-ehdn.71
Autor:
Emilie Neerup, Nielsen, Birna, Ásbjörnsdóttir, Lisbeth Birk, Møller, Jørgen Erik, Nielsen, Suzanne Granhøj, Lindquist
Publikováno v:
Cold Spring Harbor molecular case studies. 8(6)
Episodic ataxia type 1 and 2 (EA1 and EA2) are the most well-described of the episodic ataxias. They are autosomal dominantly inherited early-onset diseases characterized by attacks of cerebellar dysfunction. EA1 is clinically characterized by short
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e4e6cbe792287ca52f21fe9968e4c3e7
https://pubmed.ncbi.nlm.nih.gov/36307210
https://pubmed.ncbi.nlm.nih.gov/36307210
Autor:
Rikke Holm Hansen, Helene Højsgaard Chow, Jacob Talbot, Sophie Buhelt, Marie Nathalie Nickelsen Hellem, Jørgen Erik Nielsen, Finn Thorup Sellebjerg, Marina Rode von Essen
Publikováno v:
Multiple sclerosis (Houndmills, Basingstoke, England). 28(9)
Background: Peripheral helper T cells (Tph) are likely implicated in the pathogenesis of various inflammatory diseases. Tph cells share functions with follicular helper T cells, including plasma cell differentiation and antibody production. Objective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::070cab27fe8b08b8c3e6ae88931bec1c
https://pubmed.ncbi.nlm.nih.gov/35112578
https://pubmed.ncbi.nlm.nih.gov/35112578
Autor:
Jørgen Erik Nielsen
Publikováno v:
Kalbotyra, Vol 41, Iss 3 (1990)
Externí odkaz:
https://doaj.org/article/9bd82912dbbd4af990cae652e5a536ac
Publikováno v:
Ugeskrift for laeger. 176(43)
Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disease of upper and lower motor neurons which often results in death from respiratory failure within 2-4 years. It has been estimated that 5-10% of ALS patients have a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5d9833bf83c2d338417f9c738b5fba64
https://pubmed.ncbi.nlm.nih.gov/25353674
https://pubmed.ncbi.nlm.nih.gov/25353674
Autor:
Gaetan, Lesca, Nadia, Boutry-Kryza, Bertrand, de Toffol, Mathieu, Milh, Dominique, Steschenko, Martine, Lemesle-Martin, Louis, Maillard, Giovanni, Foletti, Gabrielle, Rudolf, Jørgen Erik, Nielsen, Bjarke, á Rogvi-Hansen, Jesper, Erdal, Josette, Mancini, Christel, Thauvin-Robinet, Amel, M'Rrabet, Dorothée, Ville, Pierre, Szepetowski, Emmanuel, Raffo, Edouard, Hirsch, Philippe, Ryvlin, Alain, Calender, Pierre, Genton
Publikováno v:
Epilepsia. 51(9)
Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy with onset in childhood or adolescence and with fatal outcome caused by mutations in two genes: EPM2A and NHLRC1. The aim of this study was to characterize the mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a3375ea57d58f2d7976c24b6ba949b66
https://pubmed.ncbi.nlm.nih.gov/20738377
https://pubmed.ncbi.nlm.nih.gov/20738377