Spinning Disk Confocal Microscopy for Optimized and Quantified Live Imaging of 3D Mitochondrial Network
Ahmadian, Somaieh, Lindsey, Patrick J, Smeets, Hubert J M, van Tienen, Florence H J, van Zandvoort, Marc A M J
Published in International journal of molecular sciences (01.05.2024)
Published in International journal of molecular sciences (01.05.2024)
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Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study
Bouman, Karlijn, Groothuis, Jan T, Doorduin, Jonne, van Alfen, Nens, Udink ten Cate, Floris E. A, van den Heuvel, Frederik M. A, Nijveldt, Robin, van Tilburg, Willem C. M, Buckens, Stan C. F. M, Dittrich, Anne T. M, Draaisma, Jos M. T, Janssen, Mirian C. H, Kamsteeg, Erik-Jan, van Kleef, Esmee S. B, Koene, Saskia, Smeitink, Jan A. M, Küsters, Benno, van Tienen, Florence H. J, Smeets, Hubert J. M, van Engelen, Baziel G. M, Erasmus, Corrie E, Voermans, Nicol C
Published in BMC neurology (12.08.2021)
Published in BMC neurology (12.08.2021)
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Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency
Guo, Le, Engelen, Bob P H, Hemel, Irene M G M, de Coo, Irenaeus F M, Vreeburg, Maaike, Sallevelt, Suzanne C E H, Hellebrekers, Debby M E I, Jacobs, Ed H, Sadeghi-Niaraki, Farah, van Tienen, Florence H J, Smeets, Hubert J M, Gerards, Mike
Published in European journal of human genetics : EJHG (01.12.2021)
Published in European journal of human genetics : EJHG (01.12.2021)
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Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success
Sallevelt, Suzanne C E H, Dreesen, Joseph C F M, Drüsedau, Marion, Spierts, Sabine, Coonen, Edith, van Tienen, Florence H J, van Golde, Ronald J T, de Coo, Irineus F M, Geraedts, Joep P M, de Die-Smulders, Christine E M, Smeets, Hubert J M
Published in Journal of medical genetics (01.02.2013)
Published in Journal of medical genetics (01.02.2013)
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Journal Article
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants
van Tienen, Florence H J, Lindsey, Patrick J, Kamps, Miriam A F, Krapels, Ingrid P, Ramaekers, Frans C S, Brunner, Han G, van den Wijngaard, Arthur, Broers, Jos L V
Published in European journal of human genetics : EJHG (01.03.2019)
Published in European journal of human genetics : EJHG (01.03.2019)
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Journal Article
Tfam Knockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos
Otten, Auke B C, Kamps, Rick, Lindsey, Patrick, Gerards, Mike, Pendeville-Samain, Hélène, Muller, Marc, van Tienen, Florence H J, Smeets, Hubert J M
Published in Frontiers in cell and developmental biology (12.06.2020)
Published in Frontiers in cell and developmental biology (12.06.2020)
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Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect
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
Published in Frontiers in molecular neuroscience (18.10.2017)
Published in Frontiers in molecular neuroscience (18.10.2017)
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Journal Article
Mitochondrial DNA D-loop variants correlate with a primary open-angle glaucoma subgroup
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
Published in Frontiers in ophthalmology (2023)
Published in Frontiers in ophthalmology (2023)
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Journal Article
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy
Paulussen, Aimee D C, Steyls, Anja, Vanoevelen, Jo, van Tienen, Florence Hj, Krapels, Ingrid P C, Claes, Godelieve Rf, Chocron, Sonja, Velter, Crool, Tan-Sindhunata, Gita M, Lundin, Catarina, Valenzuela, Irene, Nagy, Balint, Bache, Iben, Maroun, Lisa Leth, Avela, Kristiina, Brunner, Han G, Smeets, Hubert J M, Bakkers, Jeroen, van den Wijngaard, Arthur
Published in European journal of human genetics : EJHG (01.12.2016)
Published in European journal of human genetics : EJHG (01.12.2016)
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Journal Article
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers
Claes, Godelieve R F, van Tienen, Florence H J, Lindsey, Patrick, Krapels, Ingrid P C, Helderman-van den Enden, Apollonia T J M, Hoos, Marije B, Barrois, Yvette E G, Janssen, Johanna W H, Paulussen, Aimée D C, Sels, Jan-Willem E M, Kuijpers, Simone H H, van Tintelen, J Peter, van den Berg, Maarten P, Heesen, Wilfred F, Garcia-Pavia, Pablo, Perrot, Andreas, Christiaans, Imke, Salemink, Simone, Marcelis, Carlo L M, Smeets, Hubert J M, Brunner, Han G, Volders, Paul G A, van den Wijngaard, Arthur
Published in European heart journal (14.06.2016)
Published in European heart journal (14.06.2016)
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Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients
Vallbona-Garcia, Antoni, Hamers, Ilse H.J., van Tienen, Florence H.J., Ochoteco-Asensio, Juan, Berendschot, Tos T.J.M., de Coo, Irenaeus F.M., Benedikter, Birke J., Webers, Carroll A.B., Smeets, Hubert J.M., Gorgels, Theo G.M.F.
Published in Experimental eye research (01.07.2023)
Published in Experimental eye research (01.07.2023)
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Human embryonic stem cell-derived cardiomyocytes as an in vitro model to study cardiac insulin resistance
Geraets, Ilvy M.E., Chanda, Dipanjan, van Tienen, Florence H.J., van den Wijngaard, Arthur, Kamps, Rick, Neumann, Dietbert, Liu, Yilin, Glatz, Jan F.C., Luiken, Joost J.F.P., Nabben, Miranda
Published in Biochimica et biophysica acta. Molecular basis of disease (01.05.2018)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.05.2018)
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Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation
Hoorntje, Edgar T, Bollen, Ilse A, Barge-Schaapveld, Daniela Q, van Tienen, Florence H, te Meerman, Gerard J, Jansweijer, Joeri A, van Essen, Anthonie J, Volders, Paul G, Constantinescu, Alina A, van den Akker, Peter C, van Spaendonck-Zwarts, Karin Y, Oldenburg, Rogier A, Marcelis, Carlo L, van der Smagt, Jasper J, Hennekam, Eric A, Vink, Aryan, Bootsma, Marianne, Aten, Emmelien, Wilde, Arthur A, van den Wijngaard, Arthur, Broers, Jos L, Jongbloed, Jan D, van der Velden, Jolanda, van den Berg, Maarten P, van Tintelen, J Peter
Published in Circulation. Cardiovascular genetics (01.08.2017)
Published in Circulation. Cardiovascular genetics (01.08.2017)
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Journal Article
Lamin A/C-Related Cardiac Disease
Hoorntje, Edgar T, Bollen, Ilse A, Barge-Schaapveld, Daniela Q, van Tienen Florence H, te Meerman Gerard J, Jansweijer, Joeri A, van Essen Anthonie J, Volders, Paul G, Constantinescu, Alina A, van den Akker Peter C, van Spaendonck-Zwarts Karin Y, Oldenburg, Rogier A, Marcelis, Carlo L, van der Smagt Jasper J, Hennekam, Eric A, Vink Aryan, Bootsma, Marianne, Aten Emmelien, Wilde, Arthur A, van den Wijngaard Arthur, Broers, Jos L, Jongbloed, Jan D, van der Velden Jolanda, van den Berg Maarten P, van Tintelen J Peter
Published in Circulation. Cardiovascular genetics (01.08.2017)
Published in Circulation. Cardiovascular genetics (01.08.2017)
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