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Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 24, p. 13484, doi. 10.3390/ijms222413484
By:
- Barbosa-Gouveia, Sofia;
- Vázquez-Mosquera, Maria E.;
- Gonzalez-Vioque, Emiliano;
- Hermida-Ameijeiras, Álvaro;
- Valverde, Laura L.;
- Armstrong-Moron, Judith;
- Fons-Estupiña, Maria del Carmen;
- Wintjes, Liesbeth T.;
- Kappen, Antonia;
- Rodenburg, Richard J.;
- Couce, Maria L.
Publication type:
Article
Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency.
Published in:
Journal of Clinical Medicine, 2019, v. 8, n. 8, p. 1262, doi. 10.3390/jcm8081262
By:
- Barbosa-Gouveia, Sofia;
- González-Vioque, Emiliano;
- Borges, Filipa;
- Gutiérrez-Solana, Luis;
- Wintjes, Liesbeth;
- Kappen, Antonia;
- van den Heuvel, Lambert;
- Leis, Rosaura;
- Rodenburg, Richard;
- Couce, María Luz
Publication type:
Article
Enhanced number and activity of mitochondria in multiple sclerosis lesions.
Published in:
Journal of Pathology, 2009, v. 219, n. 2, p. 193, doi. 10.1002/path.2582
By:
- Witte, Maarten E;
- Bø, Lars;
- Rodenburg, Richard J;
- Belien, Jeroen A;
- Musters, Rene;
- Hazes, Thierry;
- Wintjes, Liesbeth T;
- Smeitink, Jan A;
- Geurts, Jeroen JG;
- De Vries, Helga E;
- van der Valk, Paul;
- van Horssen, Jack
Publication type:
Article
Mitochondrial complex I dysfunction and altered NAD(P)H kinetics in rat myocardium in cardiac right ventricular hypertrophy and failure.
Published in:
Cardiovascular Research, 2016, v. 111, n. 4, p. 362, doi. 10.1093/cvr/cvw176
By:
- Wüst, Rob C.I.;
- de Vries, Heder J.;
- Wintjes, Liesbeth T.;
- Rodenburg, Richard J.;
- Niessen, Hans W. M.;
- Stienen, Ger J. M.
Publication type:
Article
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Published in:
Clinical Genetics, 2020, v. 97, n. 4, p. 556, doi. 10.1111/cge.13706
By:
- Panneman, Daan M.;
- Wortmann, Saskia B.;
- Haaxma, Charlotte A.;
- Hasselt, Peter M.;
- Wolf, Nicole I.;
- Hendriks, Yvonne;
- Küsters, Benno;
- Emst‐de Vries, Sjenet;
- Westerlo, Els;
- Koopman, Werner J.H.;
- Wintjes, Liesbeth;
- Brandt, Frans;
- Vries, Maaike;
- Lefeber, Dirk J.;
- Smeitink, Jan A.M.;
- Rodenburg, Richard J.
Publication type:
Article
Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system.
Published in:
Annals of Neurology, 2008, v. 63, n. 4, p. 473, doi. 10.1002/ana.21328
By:
- Janssen, Antoon J. M.;
- Schuelke, Markus;
- Smeitink, Jan A. M.;
- Trijbels, Frans J. M.;
- Sengers, Rob C. A.;
- Lucke, Barbara;
- Wintjes, Liesbeth T. M.;
- Morava, Eva;
- van Engelen, Baziel G. M.;
- Smits, Bart W.;
- Hol, Frans A.;
- Siers, Marloes H.;
- Ter Laak, Henk;
- van der Knaap, Marjo S.;
- Van Spronsen, Francjan J.;
- Rodenburg, Richard J. T.;
- van den Heuvel, Lambert P.
Publication type:
Article
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
Published in:
Human Mutation, 2021, v. 42, n. 2, p. 135, doi. 10.1002/humu.24137
By:
- Wintjes, Liesbeth T. M.;
- Kava, Maina;
- Brandt, Frans A.;
- Brand, Mariël A. M.;
- Lapina, Oksana;
- Bliksrud, Yngve T.;
- Kulseth, Mari A.;
- Amundsen, Silja S.;
- Selberg, Terje R.;
- Ybema‐Antoine, Marion;
- Tutakhel, Omar A. Z.;
- Greed, Lawrence;
- Thorburn, David R.;
- Tangeraas, Trine;
- Balasubramaniam, Shanti;
- Rodenburg, Richard J. T.
Publication type:
Article
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1786, doi. 10.1002/humu.23340
By:
- Wortmann, Saskia B.;
- Timal, Sharita;
- Venselaar, Hanka;
- Wintjes, Liesbeth T.;
- Kopajtich, Robert;
- Feichtinger, René G.;
- Onnekink, Carla;
- Mühlmeister, Mareike;
- Brandt, Ulrich;
- Smeitink, Jan A.;
- Veltman, Joris A.;
- Sperl, Wolfgang;
- Lefeber, Dirk;
- Pruijn, Ger;
- Stojanovic, Vesna;
- Freisinger, Peter;
- v Spronsen, Francjan;
- Derks, Terry GJ;
- Veenstra-Knol, Hermine E.;
- Mayr, Johannes A
Publication type:
Article
Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.
Published in:
Genes, 2020, v. 11, n. 9, p. 1028, doi. 10.3390/genes11091028
By:
- Barbosa-Gouveia, Sofia;
- González-Vioque, Emiliano;
- Hermida, Álvaro;
- Suarez, María Unceta;
- Martínez-González, María Jesús;
- Borges, Filipa;
- Wintjes, Liesbeth;
- Kappen, Antonia;
- Rodenburg, Richard;
- Couce, María-Luz
Publication type:
Article

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