Works by Ostergaard, Elsebet

Results: 35
    1
    2
    3
    4

    Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 726, doi. 10.1002/jimd.12211
    By:
    • Hikmat, Omar;
    • Naess, Karin;
    • Engvall, Martin;
    • Klingenberg, Claus;
    • Rasmussen, Magnhild;
    • Tallaksen, Chantal ME;
    • Brodtkorb, Eylert;
    • Ostergaard, Elsebet;
    • Coo, I. F. M;
    • Pias‐Peleteiro, Leticia;
    • Isohanni, Pirjo;
    • Uusimaa, Johanna;
    • Darin, Niklas;
    • Rahman, Shamima;
    • Bindoff, Laurence A.
    Publication type:
    Article
    5

    A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 853, doi. 10.1007/s10545-017-0057-z
    By:
    • Pronicka, Ewa;
    • Ropacka-Lesiak, Mariola;
    • Trubicka, Joanna;
    • Pajdowska, Magdalena;
    • Linke, Markus;
    • Ostergaard, Elsebet;
    • Saunders, Carol;
    • Horsch, Sandra;
    • Karnebeek, Clara;
    • Yaplito-Lee, Joy;
    • Distelmaier, Felix;
    • Õunap, Katrin;
    • Rahman, Shamima;
    • Castelle, Martin;
    • Kelleher, John;
    • Baris, Safa;
    • Iwanicka-Pronicka, Katarzyna;
    • Steward, Colin;
    • Ciara, Elżbieta;
    • Wortmann, Saskia
    Publication type:
    Article
    6

    Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.

    Published in:
    Kidney Diseases, 2022, v. 8, n. 2, p. 148, doi. 10.1159/000521148
    By:
    • 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
    Publication type:
    Article
    7

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

    Published in:
    BMC Medical Education, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12909-023-04909-7
    By:
    • 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
    Publication type:
    Article
    8

    Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 15, p. 2441, doi. 10.1093/hmg/ddad069
    By:
    • Amarasekera, Sumudu S C;
    • Hock, Daniella H;
    • Lake, Nicole J;
    • Calvo, Sarah E;
    • Grønborg, Sabine W;
    • Krzesinski, Emma I;
    • Amor, David J;
    • Fahey, Michael C;
    • Simons, Cas;
    • Wibrand, Flemming;
    • Mootha, Vamsi K;
    • Lek, Monkol;
    • Lunke, Sebastian;
    • Stark, Zornitza;
    • Østergaard, Elsebet;
    • Christodoulou, John;
    • Thorburn, David R;
    • Stroud, David A;
    • Compton, Alison G
    Publication type:
    Article
    9

    Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 6, p. 917, doi. 10.1093/hmg/ddac246
    By:
    • Arribas-Carreira, Laura;
    • Dallabona, Cristina;
    • Swanson, Michael A;
    • Farris, Joseph;
    • Østergaard, Elsebet;
    • Tsiakas, Konstantinos;
    • Hempel, Maja;
    • Aquaviva-Bourdain, Cecile;
    • Koutsoukos, Stefanos;
    • Stence, Nicholas V;
    • Magistrati, Martina;
    • Spector, Elaine B;
    • Kronquist, Kathryn;
    • Christensen, Mette;
    • Karstensen, Helena G;
    • Feichtinger, René G;
    • Achleitner, Melanie T;
    • II, J Lawrence Merritt;
    • Pérez, Belén;
    • Ugarte, Magdalena
    Publication type:
    Article
    10

    Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 4, p. 523, doi. 10.1093/hmg/ddab257
    By:
    • Zheng, Wen-Qiang;
    • Pedersen, Signe Vandal;
    • Thompson, Kyle;
    • Bellacchio, Emanuele;
    • French, Courtney E;
    • Munro, Benjamin;
    • Pearson, Toni S;
    • Vogt, Julie;
    • Diodato, Daria;
    • Diemer, Tue;
    • Ernst, Anja;
    • Horvath, Rita;
    • Chitre, Manali;
    • Ek, Jakob;
    • Wibrand, Flemming;
    • Grange, Dorothy K;
    • Raymond, Lucy;
    • Zhou, Xiao-Long;
    • Taylor, Robert W;
    • Ostergaard, Elsebet
    Publication type:
    Article
    11

    NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.

    Published in:
    Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.668640
    By:
    • den Hollander, Bibiche;
    • Rasing, Anne;
    • Post, Merel A.;
    • Klein, Willemijn M.;
    • Oud, Machteld M.;
    • Brands, Marion M.;
    • de Boer, Lonneke;
    • Engelke, Udo F. H.;
    • van Essen, Peter;
    • Fuchs, Sabine A.;
    • Haaxma, Charlotte A.;
    • Jensson, Brynjar O.;
    • Kluijtmans, Leo A. J.;
    • Lengyel, Anna;
    • Lichtenbelt, Klaske D.;
    • Østergaard, Elsebet;
    • Peters, Gera;
    • Salvarinova, Ramona;
    • Simon, Marleen E. H.;
    • Stefansson, Kari
    Publication type:
    Article
    12

    Exclusive neuronal expression of SUCLA2 in the human brain.

    Published in:
    Brain Structure & Function, 2015, v. 220, n. 1, p. 135, doi. 10.1007/s00429-013-0643-2
    By:
    • Dobolyi, Arpád;
    • Ostergaard, Elsebet;
    • Bagó, Attila;
    • Dóczi, Tamás;
    • Palkovits, Miklós;
    • Gál, Aniko;
    • Molnár, Mária;
    • Adam-Vizi, Vera;
    • Chinopoulos, Christos
    Publication type:
    Article
    13
    14
    15
    16

    Status epilepticus in POLG disease: a large multinational study.

    Published in:
    Journal of Neurology, 2024, v. 271, n. 8, p. 5156, doi. 10.1007/s00415-024-12463-5
    By:
    • Hikmat, Omar;
    • Naess, Karin;
    • Engvall, Martin;
    • Klingenberg, Claus;
    • Rasmussen, Magnhild;
    • Brodtkorb, Eylert;
    • Ostergaard, Elsebet;
    • de Coo, Irenaeus;
    • Pias-Peleteiro, Leticia;
    • Isohanni, Pirjo;
    • Uusimaa, Johanna;
    • Majamaa, Kari;
    • Kärppä, Mikko;
    • Ortigoza-Escobar, Juan Dario;
    • Tangeraas, Trine;
    • Berland, Siren;
    • Harrison, Emma;
    • Biggs, Heather;
    • Horvath, Rita;
    • Darin, Niklas
    Publication type:
    Article
    17

    Two transgenic mouse models for ß-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations.

    Published in:
    Biochemical Journal, 2016, v. 473, n. 20, p. 3463, doi. 10.1042/BCJ20160594
    By:
    • Kacso, Gergely;
    • Ravasz, Dora;
    • Doczi, Judit;
    • Németh, Beáta;
    • Madgar, Ory;
    • Saada, Ann;
    • Ilin, Polina;
    • Miller, Chaya;
    • Ostergaard, Elsebet;
    • Iordanov, Iordan;
    • Adams, Daniel;
    • Vargedo, Zsuzsanna;
    • Masatake Araki;
    • Kimi Araki;
    • Mai Nakahara;
    • Haruka Ito;
    • Gál, Aniko;
    • Molnár, Mária J.;
    • Nagy, Zsolt;
    • Patocs, Attila
    Publication type:
    Article
    18
    19
    20

    Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy.

    Published in:
    Movement Disorders Clinical Practice, 2022, v. 9, n. 2, p. 218, doi. 10.1002/mdc3.13398
    By:
    • Magrinelli, Francesca;
    • Cali, Elisa;
    • Braga, Vinícius Lopes;
    • Yis, Uluç;
    • Tomoum, Hoda;
    • Shamseldin, Hanan;
    • Raiman, Julian;
    • Kernstock, Christoph;
    • Rezende Filho, Flávio Moura;
    • Barsottini, Orlando Graziani Povoas;
    • Taylor, Robert W.;
    • Østergaard, Elsebet;
    • Tamim, Abdullah;
    • Schäferhoff, Karin;
    • Sallum, Juliana Maria Ferraz;
    • Zaki, Maha S.;
    • Kok, Fernando;
    • Bhatia, Kailash P.;
    • Wissinger, Bernd;
    • Sergeant, Kate
    Publication type:
    Article
    21

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

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 2019, doi. 10.1002/acn3.51199
    By:
    • 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.
    Publication type:
    Article
    22
    23
    24

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

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19743-4
    By:
    • 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
    Publication type:
    Article
    25
    26
    27
    28
    29
    30
    31

    Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1143, doi. 10.1002/ajmg.a.36427
    By:
    • Valencia, María;
    • Caparrós‐Martin, Jose A.;
    • Sirerol‐Piquer, María Salomé;
    • García‐Verdugo, José Manuel;
    • Martínez‐Glez, Víctor;
    • Lapunzina, Pablo;
    • Temtamy, Samia;
    • Aglan, Mona;
    • Lund, Allan M.;
    • Nikkels, Peter G. J.;
    • Ruiz‐Perez, Victor L.;
    • Ostergaard, Elsebet
    Publication type:
    Article
    32

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

    Published in:
    BMC Pediatrics, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12887-023-04312-7
    By:
    • 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
    Publication type:
    Article
    33
    34

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

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 3, doi. 10.1186/1750-1172-9-52
    By:
    • Sofou, Kalliopi;
    • De Coo, Irenaeus F. M.;
    • Isohanni, Pirjo;
    • Ostergaard, Elsebet;
    • Naess, Karin;
    • Meirleir, Linda De;
    • Tzoulis, Charalampos;
    • Uusimaa, Johanna;
    • De Angst, Isabell B.;
    • Lönnqvist, Tuula;
    • Pihko, Helena;
    • Mankinen, Katariina;
    • Bindoff, Laurence A.;
    • Tulinius, Már;
    • Darin, Niklas
    Publication type:
    Article
    35