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Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.
Published in:
Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00336
By:
- Theunissen, Tom E. J.;
- Gerards, Mike;
- Hellebrekers, Debby M. E. I.;
- van Tienen, Florence H.;
- Kamps, Rick;
- Sallevelt, Suzanne C. E. H.;
- Hartog, Elvira N. M. M.-D.;
- Scholte, Hans R.;
- Verdijk, Robert M.;
- Schoonderwoerd, Kees;
- de Coo, Irenaeus F. M.;
- Szklarczyk, Radek;
- Smeets, Hubert J. M.
Publication type:
Article
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
A multicenter study on Leigh syndrome: disease course and predictors of survival.
Published in:
2014
By:
- 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
Publication type:
journal article
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
Published in:
2015
By:
- Halter, Joerg P.;
- Schüpbach, W. Michael M.;
- Mandel, Hanna;
- Casali, Carlo;
- Orchard, Kim;
- Collin, Matthew;
- Valcarcel, David;
- Rovelli, Attilio;
- Filosto, Massimiliano;
- Dotti, Maria T.;
- Marotta, Giuseppe;
- Pintos, Guillem;
- Barba, Pere;
- Accarino, Anna;
- Ferra, Christelle;
- Illa, Isabel;
- Beguin, Yves;
- Bakker, Jaap A.;
- Boelens, Jaap J.;
- de Coo, Irenaeus F. M.
Publication type:
journal article
Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Published in:
2017
By:
- Oegema, Renske;
- Baillat, David;
- Schot, Rachel;
- van Unen, Leontine M.;
- Brooks, Alice;
- Kia, Sima Kheradmand;
- Hoogeboom, A. Jeannette M.;
- Xia, Zheng;
- Li, Wei;
- Cesaroni, Matteo;
- Lequin, Maarten H.;
- van Slegtenhorst, Marjon;
- Dobyns, William B.;
- de Coo, Irenaeus F. M.;
- van den Berg, Debbie;
- Verheijen, Frans W.;
- Kremer, Andreas;
- van der Spek, Peter J.;
- Heijsman, Daphne;
- Wagner, Eric J.
Publication type:
Correction Notice
Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Published in:
PLoS Genetics, 2017, v. 13, n. 5, p. 1, doi. 10.1371/journal.pgen.1006809
By:
- Oegema, Renske;
- Baillat, David;
- Schot, Rachel;
- van Unen, Leontine M.;
- Brooks, Alice;
- Kia, Sima Kheradmand;
- Hoogeboom, A. Jeannette M.;
- Xia, Zheng;
- Li, Wei;
- Cesaroni, Matteo;
- Lequin, Maarten H.;
- van Slegtenhorst, Marjon;
- Dobyns, William B.;
- de Coo, Irenaeus F. M.;
- Verheijen, Frans W.;
- Kremer, Andreas;
- van der Spek, Peter J.;
- Heijsman, Daphne;
- Wagner, Eric J.;
- Fornerod, Maarten
Publication type:
Article
Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities.
Published in:
2011
By:
- DE WIT, MARIE-CLAIRE Y.;
- DE RIJK-VAN ANDEL, JOJANNEKE;
- HALLEY, DICKY J.;
- PODDIGHE, PINO J.;
- ARTS, WILLEM FRANS M.;
- DE COO, IRENAEUS F. M.;
- MANCINI, GRAZIA M. S.
Publication type:
journal article
Mitochondrial DNA D-loop variants correlate with a primary open-angle glaucoma subgroup.
Published in:
Frontiers in Ophthalmology, 2024, p. 1, doi. 10.3389/fopht.2023.1309836
By:
- Vallbona-Garcia, Antoni;
- Lindsey, Patrick J.;
- Kamps, Rick;
- Stassen, Alphons P. M.;
- Nguyen, Nhan;
- van Tienen, Florence H. J.;
- Hamers, Ilse H. J.;
- Hardij, Rianne;
- van Gisbergen, Marike W.;
- Benedikter, Birke J.;
- de Coo, Irenaeus F. M.;
- Webers, Carroll A. B.;
- Gorgels, Theo G. M. F.;
- Smeets, Hubert J. M.
Publication type:
Article
Plasma GDF-15 concentration is not elevated in open-angle glaucoma.
Published in:
PLoS ONE, 2021, v. 16, n. 5, p. 1, doi. 10.1371/journal.pone.0252630
By:
- Hubens, Wouter H. G.;
- Kievit, Mariëlle T.;
- Berendschot, Tos T. J. M.;
- de Coo, Irenaeus F. M.;
- Smeets, Hubert J. M.;
- Webers, Carroll A. B.;
- Gorgels, Theo G. M. F.
Publication type:
Article
Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.
Published in:
Frontiers in Cellular Neuroscience, 2017, v. 11, p. 1, doi. 10.3389/fncel.2017.00031
By:
- Yadak, Rana;
- Smitt, Peter Sillevis;
- van Gisbergen, Marike W.;
- van Til, Niek P.;
- de Coo, Irenaeus F. M.
Publication type:
Article
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.
Published in:
Brain: A Journal of Neurology, 2011, v. 134, n. 1, p. 210, doi. 10.1093/brain/awq273
By:
- Gerards, Mike;
- van den Bosch, Bianca J. C.;
- Danhauser, Katharina;
- Serre, Valérie;
- van Weeghel, Michel;
- Wanders, Ronald J. A.;
- Nicolaes, Gerry A. F.;
- Sluiter, Wim;
- Schoonderwoerd, Kees;
- Scholte, Hans R.;
- Prokisch, Holger;
- Rötig, Agnès;
- de Coo, Irenaeus F. M.;
- Smeets, Hubert J. M.
Publication type:
Article
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 515, doi. 10.1002/acn3.725
By:
- Hayhurst, Hannah;
- de Coo, Irenaeus F. M.;
- Piekutowska‐Abramczuk, Dorota;
- Alston, Charlotte L.;
- Sharma, Sunil;
- Thompson, Kyle;
- Rius, Rocio;
- He, Langping;
- Hopton, Sila;
- Ploski, Rafal;
- Ciara, Elzbieta;
- Lake, Nicole J.;
- Compton, Alison G.;
- Delatycki, Martin B.;
- Verrips, Aad;
- Bonnen, Penelope E.;
- Jones, Simon A.;
- Morris, Andrew A.;
- Shakespeare, David;
- Christodoulou, John
Publication type:
Article
Neurodegenerative and functional signatures of the cerebellar cortex inm.3243A >G patients.
Published in:
Brain Communications, 2022, v. 4, n. 1, p. 1, doi. 10.1093/braincomms/fcac024
By:
- Haast, Roy A. M.;
- De Coo, Irenaeus F. M.;
- Ivanov, Dimo;
- Khan, Ali R.;
- Jansen, Jacobus F. A.;
- Smeets, Hubert J. M.;
- Uludağ, Kâmil
Publication type:
Article
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Published in:
Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00400
By:
- Theunissen, Tom E. J.;
- Nguyen, Minh;
- Kamps, Rick;
- Hendrickx, Alexandra T.;
- Sallevelt, Suzanne C. E. H.;
- Gottschalk, Ralph W. H.;
- Calis, Chantal M.;
- Stassen, Alphons P. M.;
- de Koning, Bart;
- Mulder-Den Hartog, Elvira N. M.;
- Schoonderwoerd, Kees;
- Fuchs, Sabine A.;
- Hilhorst-Hofstee, Yvonne;
- de Visser, Marianne;
- Vanoevelen, Jo;
- Szklarczyk, Radek;
- Gerards, Mike;
- de Coo, Irenaeus F. M.;
- Hellebrekers, Debby M. E. I.;
- Smeets, Hubert J. M.
Publication type:
Article
Specific MRIi Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.
Published in:
Frontiers in Neurology, 2016, v. 7, p. 1, doi. 10.3389/fneur.2016.00203
By:
- Theunissen, Tom E. J.;
- Szklarczyk, Radek;
- Gerards, Mike;
- Hellebrekers, Debby M. E. I.;
- Mulder-Den Hartog, Elvira N. M.;
- Vanoevelen, Jo;
- Kamps, Rick;
- de Koning, Bart;
- Rutledge, S. Lane;
- Schmitt-Mechelke, Thomas;
- van Berkel, Carola G. M.;
- van der Knaap, Marjo S.;
- de Coo, Irenaeus F. M.;
- Smeets, Hubert J. M.
Publication type:
Article

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