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SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease
Author / Creator:Gut, Philipp ; Matilainen, Sanna ; Meyer, Jesse G. ; Pällijeff, Pieti ; Richard, Joy ; Carroll, Christopher J. ; Euro, Liliya ; Jackson, Christopher B. ; Isohanni, Pirjo ; Minassian, Berge A. ; Alkhater, Reem A. ; Østergaard, Elsebet ; Civiletto, Gabriele ; Parisi, Alice ; Thevenet, Jonathan ; Rardin, Matthew J. ; He, Wenjuan ; Nishida, Yuya ; Newman, John C. ; Liu, Xiaojing ; Christen, Stefan ; Moco, Sofia ; Locasale, Jason W. ; Schilling, Birgit ; Suomalainen, Anu ; Verdin, Eric
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-11, Vol.11 (1), p.5927-5927, Article 5927
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Cerebral Palsy - Early Diagnosis and Intervention Trial: protocol for the prospective multicentre CP-EDIT study with focus on diagnosis, prognostic factors, and intervention
Author / Creator:Hoei-Hansen, Christina Engel ; Weber, Lene ; Johansen, Mette ; Fabricius, Rebecca ; Hansen, Jonas Kjeldbjerg ; Viuff, Anne-Cathrine F ; Rønde, Gitte ; Hahn, Gitte Holst ; Østergaard, Elsebet ; Duno, Morten ; Larsen, Vibeke Andrée ; Madsen, Camilla Gøbel ; Røhder, Katrine ; Elvrum, Ann-Kristin Gunnes ; Laugesen, Britt ; Ganz, Melanie ; Madsen, Kathrine Skak ; Willerslev-Olsen, Maria ; Debes, Nanette Mol ; Christensen, Jan ; Christensen, Robin ; Rackauskaite, Gija
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2023-10, Vol.23 (1), p.544-14, Article 544
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The postgraduate medical educational climate assessed by the Danish Residency Educational Climate Test (DK-RECT): a validation and cross-sectional observational study
Author / Creator:Jacobsen, Rikke Borre ; Boor, Klarke ; Christensen, Karl Bang ; Ung, Vilde Hansteen ; Carlsen, Jørn ; Kirk, Ole ; Hanefeld Dziegiel, Morten ; Østergaard, Elsebet ; Rochat, Per ; Albrecht-Beste, Elisabeth ; Droogh, Marjoes ; Lapperre, Therese S ; Scheele, Fedde ; Sørensen, Jette Led
Publisher:England: BioMed Central Ltd
Journal title:BMC medical education, 2023-12, Vol.23 (1), p.943-943, Article 943
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A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course
Author / Creator:Grønborg, Sabine ; Risom, Lotte ; Ek, Jakob ; Larsen, Karen Bonde ; Scheie, David ; Petkov, Yanko ; Larsen, Vibeke André ; Dunø, Morten ; Joensen, Fróði ; Østergaard, Elsebet
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-10, Vol.26 (10), p.1512-1520
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The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
Author / Creator:Ng, Yi Shiau ; Alston, Charlotte L ; Diodato, Daria ; Morris, Andrew A ; Ulrick, Nicole ; Kmoch, Stanislav ; Houštěk, Josef ; Martinelli, Diego ; Haghighi, Alireza ; Atiq, Mehnaz ; Gamero, Montserrat Anton ; Garcia-Martinez, Elena ; Kratochvílová, Hana ; Santra, Saikat ; Brown, Ruth M ; Brown, Garry K ; Ragge, Nicola ; Monavari, Ahmad ; Pysden, Karen ; Ravn, Kirstine ; Casey, Jillian P ; Khan, Arif ; Chakrapani, Anupam ; Vassallo, Grace ; Simons, Cas ; McKeever, Karl ; O'Sullivan, Siobhan ; Childs, Anne-Marie ; Østergaard, Elsebet ; Vanderver, Adeline ; Goldstein, Amy ; Vogt, Julie ; Taylor, Robert W ; McFarland, Robert
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2016-11, Vol.53 (11), p.768-775
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A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses
Author / Creator:Alstrup, Morten ; Vogel, Ida ; Sandager, Puk ; Blechingberg, Jenny ; Becher, Naja ; Østergaard, Elsebet
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2021-05, Vol.59 (1), p.20-25
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Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study
Author / Creator:Björkman, Kristoffer ; Vissing, John ; Østergaard, Elsebet ; Bindoff, Laurence A ; de Coo, Irenaeus F M ; Engvall, Martin ; Hikmat, Omar ; Isohanni, Pirjo ; Kollberg, Gittan ; Lindberg, Christopher ; Majamaa, Kari ; Naess, Karin ; Uusimaa, Johanna ; Tulinius, Mar ; Darin, Niklas
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2023-01, Vol.60 (1), p.65-73
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A multicenter study on Leigh syndrome: disease course and predictors of survival
Author / Creator:Sofou, Kalliopi ; De Coo, Irenaeus F M ; Isohanni, Pirjo ; Ostergaard, Elsebet ; Naess, Karin ; De Meirleir, Linda ; Tzoulis, Charalampos ; Uusimaa, Johanna ; De Angst, Isabell B ; Lönnqvist, Tuula ; Pihko, Helena ; Mankinen, Katariina ; Bindoff, Laurence A ; Tulinius, Már ; Darin, Niklas
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2014-04, Vol.9 (1), p.52-52
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Molecular imaging of α7 nicotinic acetylcholine receptors: design and evaluation of the potent radioligand [18F]NS10743
Author / Creator:Deuther-Conrad, Winnie ; Fischer, Steffen ; Hiller, Achim ; Østergaard Nielsen, Elsebet ; Brunicardi Timmermann, Daniel ; Steinbach, Jörg ; Sabri, Osama ; Peters, Dan ; Brust, Peter
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of nuclear medicine and molecular imaging, 2009-05, Vol.36 (5), p.791-800
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Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia
Author / Creator:Strandbech, Olivia Sarah ; Lund, Allan ; Ostergaard, Elsebet
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2021-05, Vol.59 (1), p.10-15
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Renal Phenotype in Mitochondrial Diseases: A Multicenter Study
Author / Creator:Parasyri, Maria ; Brandström, Per ; Uusimaa, Johanna ; Ostergaard, Elsebet ; Hikmat, Omar ; Isohanni, Pirjo ; Naess, Karin ; de Coo, I.F.M. ; Nascimento Osorio, Andrés ; Nuutinen, Matti ; Lindberg, Christopher ; Bindoff, Laurence A. ; Tulinius, Már ; Darin, Niklas ; Sofou, Kalliopi
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Kidney diseases, 2022-01, Vol.8 (2), p.148-159
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GABAA Receptor Expression in the Forebrain of Ataxic Rolling Nagoya Mice
Author / Creator:Nielsen, Elsebet Ostergaard ; Kaja, Simon
Journal title:Biology and medicine, 2014, Vol.6 (1)
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The impact of gender, puberty, and pregnancy in patients with POLG disease
Author / Creator:Hikmat, Omar ; Naess, Karin ; Engvall, Martin ; Klingenberg, Claus ; Rasmussen, Magnhild ; Tallaksen, Chantal M. E. ; Samsonsen, Christian ; Brodtkorb, Eylert ; Ostergaard, Elsebet ; de Coo, Rene ; Pias‐Peleteiro, Leticia ; Isohanni, Pirjo ; Uusimaa, Johanna ; Darin, Niklas ; Rahman, Shamima ; Bindoff, Laurence A.
Publisher:Bognor Regis: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2020-10, Vol.7 (10), p.2019-2025
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GABA A Receptor Expression in the Forebrain of Ataxic Rolling Nagoya Mice
Author / Creator:Nielsen, Elsebet Østergaard ; Kaja, Simon
Publisher:India
Journal title:Biology and medicine, 2014, Vol.6 (1)
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Genotype and phenotype classification of 29 patients affected by Krabbe disease
Author / Creator:Madsen, Anna M. H ; Wibrand, Flemming ; Lund, Allan M ; Ek, Jakob ; Dunø, Morten ; Østergaard, Elsebet
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2019-03, Vol.46 (1), p.35-45
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GABAA Receptor Expression in the Forebrain of Ataxic Rolling Nagoya Mice
Author / Creator:Simon Kaja, Elsebet
Journal title:Biology and medicine, 2014, Vol.6 (1)
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A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder
Author / Creator:Barington, Maria ; Risom, Lotte ; Ek, Jakob ; Uldall, Peter ; Ostergaard, Elsebet
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-09, Vol.26 (9), p.1388-1391
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GABA^sub A^ Receptor Expression in the Forebrain of Ataxic Rolling Nagoya Mice
Author / Creator:Kaja, Simon ; Nielsen, Elsebet Østergaard
Publisher:Aligarh: HATASO Enterprises LLC
Journal title:Biology and medicine, 2014-01, Vol.6 (1), p.1-1
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[18F]NS10743: Characterisation of a selective alpha7 nicotinic acetylcholine receptor (alpha7 nAChR) radioligand in pig brain by PET
Author / Creator:Deuther-Conrad, Winnie ; Fischer, Steffen ; Hiller, Achim ; Funke, Uta ; Nielsen, Elsebet Østergaard ; Timmermann, Daniel Brunicardi ; Steinbach, Jörg ; Peters, Dan ; Brust, Peter
Publisher:Amsterdam: Elsevier Limited
Journal title:NeuroImage (Orlando, Fla.), 2010-08, Vol.52 (S1), p.S49
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Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature
Author / Creator:Ostergaard, Elsebet ; Weraarpachai, Woranontee ; Ravn, Kirstine ; Born, Alfred Peter ; Jønson, Lars ; Duno, Morten ; Wibrand, Flemming ; Shoubridge, Eric A ; Vissing, John
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2015-03, Vol.52 (3), p.203-207
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Showing 1 to 20 of 37 results

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SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease

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Cerebral Palsy - Early Diagnosis and Intervention Trial: protocol for the prospective multicentre CP-EDIT study with focus on diagnosis, prognostic factors, and intervention

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The postgraduate medical educational climate assessed by the Danish Residency Educational Climate Test (DK-RECT): a validation and cross-sectional observational study

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A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course

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The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

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A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses

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Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

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A multicenter study on Leigh syndrome: disease course and predictors of survival

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Molecular imaging of α7 nicotinic acetylcholine receptors: design and evaluation of the potent radioligand [18F]NS10743

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Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia

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Renal Phenotype in Mitochondrial Diseases: A Multicenter Study

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GABAA Receptor Expression in the Forebrain of Ataxic Rolling Nagoya Mice

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The impact of gender, puberty, and pregnancy in patients with POLG disease

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GABA A Receptor Expression in the Forebrain of Ataxic Rolling Nagoya Mice

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Genotype and phenotype classification of 29 patients affected by Krabbe disease

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GABAA Receptor Expression in the Forebrain of Ataxic Rolling Nagoya Mice

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A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder

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GABA^sub A^ Receptor Expression in the Forebrain of Ataxic Rolling Nagoya Mice

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[18F]NS10743: Characterisation of a selective alpha7 nicotinic acetylcholine receptor (alpha7 nAChR) radioligand in pig brain by PET

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Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

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