Spinning Disk Confocal Microscopy for Optimized and Quantified Live Imaging of 3D Mitochondrial Network von Ahmadian, Somaieh, Lindsey, Patrick J, Smeets, Hubert J M, van Tienen, Florence H J, van Zandvoort, Marc A M J

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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 von 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.

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Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants von 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

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Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency von 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

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Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success von 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

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Tfam Knockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos von Otten, Auke B C, Kamps, Rick, Lindsey, Patrick, Gerards, Mike, Pendeville-Samain, Hélène, Muller, Marc, van Tienen, Florence H J, Smeets, Hubert J M

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Mitochondrial DNA D-loop variants correlate with a primary open-angle glaucoma subgroup von 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

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Rare novel variants in the ZIC3 gene cause X-linked heterotaxy von 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

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Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers von 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

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Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients von 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.

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Human embryonic stem cell-derived cardiomyocytes as an in vitro model to study cardiac insulin resistance von 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

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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 von 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

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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 von 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

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Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect von 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

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Lamin A/C-Related Cardiac Disease von 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

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Prolonged Nrf1 overexpression triggers adipocyte inflammation and insulin resistance von van Tienen, Florence H., Lindsey, Patrick J., van der Kallen, Carla J., Smeets, Hubert J.

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