A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases

Por Ostergaard, Elsebet, Duno, Morten, Batbayli, Mustafa, Vilhelmsen, Kaj, Rosenberg, Thomas
Publicado em 2011

Deficiency of the α Subunit of Succinate–Coenzyme A Ligase Causes Fatal Infantile Lactic Acidosis with Mitochondrial DNA Depletion

Por Ostergaard, Elsebet , Christensen, Ernst , Kristensen, Elisabeth , Mogensen, Bodil , Duno, Morten , Shoubridge, Eric A. , Wibrand, Flemming 
Publicado em 2007

Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation

Por Rafiq, Jabin, Duno, Morten, Østergaard, Elsebet, Ravn, Kirstine, Vissing, Christoffer R., Wibrand, Flemming, Vissing, John
Publicado no JIMD Rep (2015)

Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

Por Ravn, Kirstine, Schönewolf-Greulich, Bitten, Hansen, Rikke M., Bohr, Anna-Helene, Duno, Morten, Wibrand, Flemming, Ostergaard, Elsebet
Publicado no Mol Genet Metab Rep (2015)

Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

Por Ostergaard, Elsebet, Duno, Morten, Møller, Lisbeth Birk, Kalkanoglu-Sivri, H. Serap, Dursun, Ali, Aliefendioglu, Didem, Leth, Helle, Dahl, Marianne, Christensen, Ernst, Wibrand, Flemming
Publicado em 2012

Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism

Por Grønskov, Karen, Dooley, Christopher M., Østergaard, Elsebet, Kelsh, Robert N., Hansen, Lars, Levesque, Mitchell P., Vilhelmsen, Kaj, Møllgård, Kjeld, Stemple, Derek L., Rosenberg, Thomas
Publicado em 2013

CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

Por Saunders, Carol, Smith, Laurie, Wibrand, Flemming, Ravn, Kirstine, Bross, Peter, Thiffault, Isabelle, Christensen, Mette, Atherton, Andrea, Farrow, Emily, Miller, Neil, Kingsmore, Stephen F., Ostergaard, Elsebet
Publicado no Am J Hum Genet (2015)

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase

Por Hinttala, Reetta, Sasarman, Florin, Nishimura, Tamiko, Antonicka, Hana, Brunel-Guitton, Catherine, Schwartzentruber, Jeremy, Fahiminiya, Somayyeh, Majewski, Jacek, Faubert, Denis, Ostergaard, Elsebet, Smeitink, Jan A., Shoubridge, Eric A.
Publicado no Hum Mol Genet (2015)

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

Por Antonicka, Hana, Østergaard, Elsebet, Sasarman, Florin, Weraarpachai, Woranontee, Wibrand, Flemming, Pedersen, Anne Marie B., Rodenburg, Richard J., van der Knaap, Marjo S., Smeitink, Jan A.M., Chrzanowska-Lightowlers, Zofia M., Shoubridge, Eric A.
Publicado em 2010

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

Por 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
Publicado em 2014

Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease

Por Gal, Andreas, Rau, Isabella, El Matri, Leila, Kreienkamp, Hans-Jürgen, Fehr, Susanne, Baklouti, Karim, Chouchane, Ibtissem, Li, Yun, Rehbein, Monika, Fuchs, Josefine, Fledelius, Hans C., Vilhelmsen, Kaj, Schorderet, Daniel F., Munier, Francis L., Ostergaard, Elsebet, Thompson, Debra A., Rosenberg, Thomas
Publicado em 2011

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

Por Kacso, Gergely, Ravasz, Dora, Doczi, Judit, Németh, Beáta, Madgar, Ory, Saada, Ann, Ilin, Polina, Miller, Chaya, Ostergaard, Elsebet, Iordanov, Iordan, Adams, Daniel, Vargedo, Zsuzsanna, Araki, Masatake, Araki, Kimi, Nakahara, Mai, Ito, Haruka, Gál, Aniko, Molnár, Mária J., Nagy, Zsolt, Patocs, Attila, Adam-Vizi, Vera, Chinopoulos, Christos
Publicado no Biochem J (2016)

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

Por 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
Publicado no J Med Genet (2016)