Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases von Hikmat, Omar, Naess, Karin, Engvall, Martin, Klingenberg, Claus, Rasmussen, Magnhild, Tallaksen, Chantal ME, Brodtkorb, Eylert, Ostergaard, Elsebet, Coo, I. F. M, Pias‐Peleteiro, Leticia, Isohanni, Pirjo, Uusimaa, Johanna, Darin, Niklas, Rahman, Shamima, Bindoff, Laurence A.

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How do changes in the mtDNA and mitochondrial dysfunction influence cancer and cancer therapy? Challenges, opportunities and models von van Gisbergen, M.W., Voets, A.M., Starmans, M.H.W., de Coo, I.F.M., Yadak, R., Hoffmann, R.F., Boutros, P.C., Smeets, H.J.M., Dubois, L., Lambin, P.

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Physical Activity Is the Key Determinant of Skeletal Muscle Mitochondrial Function in Type 2 Diabetes von van Tienen, F. H. J, Praet, S. F. E, de Feyter, H. M, van den Broek, N. M, Lindsey, P. J, Schoonderwoerd, K. G. C, de Coo, I. F. M, Nicolay, K, Prompers, J. J, Smeets, H. J. M, van Loon, L. J. C

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Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy von van Gelder, C. M., van Capelle, C. I., Ebbink, B. J., Moor-van Nugteren, I., van den Hout, J. M. P., Hakkesteegt, M. M., van Doorn, P. A., de Coo, I. F. M., Reuser, A. J. J., de Gier, H. H. W., van der Ploeg, A. T.

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Novel pathogenic SLC25A46 splice‐site mutation causes an optic atrophy spectrum disorder von Nguyen, M., Boesten, I., Hellebrekers, D. M. E. I., Mulder‐den Hartog, N. M., de Coo, I. F. M., Smeets, H. J. M., Gerards, M.

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COL4A2 mutation associated with familial porencephaly and small-vessel disease von VERBEEK, Elly, MEUWISSEN, Marije E. C, HALLEY, Dicky J, DE COO, René I. F, DEN HOLLANDER, Jan C, OEGEMA, Renske, GOULD, Douglas B, MANCINI, Grazia M. S, VERHEIJEN, Frans W, GOVAERT, Paul P, LICHT, Daniel J, KUO, Debbie S, POULTON, Cathryn J, SCHOT, Rachel, LEQUIN, Maarten H, DUDINK, Jeroen

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International Paediatric Mitochondrial Disease Scale von Koene, Saskia, Hendriks, Jan C. M., Dirks, Ilse, de Boer, Lonneke, de Vries, Maaike C., Janssen, Mirian C. H., Smuts, Izelle, Fung, Cheuk-Wing, Wong, Virginia C. N., de Coo, I. René F. M., Vill, Katharina, Stendel, Claudia, Klopstock, Thomas, Falk, Marni J., McCormick, Elizabeth M., McFarland, Robert, de Groot, Imelda J. M., Smeitink, Jan A. M.

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PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring von Hellebrekers, D M E I, Wolfe, R, Hendrickx, A T M, de Coo, I F M, de Die, C E, Geraedts, J P M, Chinnery, P F, Smeets, H J M

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RYR1-related myopathies: a wide spectrum of phenotypes throughout life von Snoeck, M., van Engelen, B. G. M., Küsters, B., Lammens, M., Meijer, R., Molenaar, J. P. F., Raaphorst, J., Verschuuren-Bemelmans, C. C., Straathof, C. S. M., Sie, L. T. L., de Coo, I. F., van der Pol, W. L., de Visser, M., Scheffer, H., Treves, S., Jungbluth, H., Voermans, N. C., Kamsteeg, E.-J.

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NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect von Baertling, F., Sánchez‐Caballero, L., van den Brand, M.A.M., Fung, C.‐W., Chan, S.H.‐S., Wong, V.C.‐N., Hellebrekers, D.M.E., de Coo, I.F.M., Smeitink, J.A.M., Rodenburg, R.J.T., Nijtmans, L.G.J.

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Blood biomarkers for assessment of mitochondrial dysfunction: An expert review von Hubens, W.H.G., Vallbona-Garcia, A., de Coo, I.F.M., van Tienen, F.H.J., Webers, C.A.B., Smeets, H.J.M., Gorgels, T.G.M.F.

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A clinical diagnostic algorithm for early onset cerebellar ataxia von Brandsma, R., Verschuuren-Bemelmans, C.C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, V., Brouwer, O.F., Bürk, K., Catsman-Berrevoets, C.E., Craiu, D., de Coo, I.F.M., Gburek, J., Kennedy, C., de Koning, T.J., Kremer, H.P.H., Kumar, R., Macaya, A., Micalizzi, A., Mirabelli-Badenier, M., Nemeth, A., Nuovo, S., Poll-The, B., Lerman-Sagie, T., Steinlin, M., Synofzik, M., Tijssen, M.A.J., Vasco, G., Willemsen, M.A.A.P., Zanni, G., Valente, E.M., Boltshauser, E., Sival, D.A.

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Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder von Hudson, Gavin, Keers, Sharon, Man, Patrick Yu Wai, Griffiths, Philip, Huoponen, Kirsi, Savontaus, Marja-Liisa, Nikoskelainen, Eeva, Zeviani, Massimo, Carrara, Franco, Horvath, Rita, Karcagi, Veronika, Spruijt, Liesbeth, de Coo, I.F.M., Smeets, Hubert J.M., Chinnery, Patrick F.

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Generation of three human induced pluripotent stem cell lines, LUMCi024-A, LUMCi025-A, and LUMCi026-A, from two patients with combined oxidative phosphorylation deficiency 8 and a... von van Helden, Ruben W.J., Birket, Matthew J., Freund, Christian, Arendzen, Christaan H., Mikkers, Harald M., Orlova, Valeria, de Coo, René I., Mummery, Christine L., Bellin, Milena

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The unfolding clinical spectrum of POLG mutations von Blok, M J, van den Bosch, B J, Jongen, E, Hendrickx, A, de Die-Smulders, C E, Hoogendijk, J E, Brusse, E, de Visser, M, Poll-The, B T, Bierau, J, de Coo, I F, Smeets, H J

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Defective NDUFA9 as a novel cause of neonatally fatal complex I disease von van den Bosch, B J C, Gerards, M, Sluiter, W, Stegmann, A P A, Jongen, E L C, Hellebrekers, D M E I, Oegema, R, Lambrichs, E H, Prokisch, H, Danhauser, K, Schoonderwoerd, K, de Coo, I F M, Smeets, H J M

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Renal Phenotype in Mitochondrial Diseases: A Multicenter Study von Parasyri, Maria, Brandström, Per, Uusimaa, Johanna, Ostergaard, Elsebet, Hikmat, Omar, Isohanni, Pirjo, Naess, Karin, de Coo, I.F.M., Nascimento Osorio, Andrés, Nuutinen, Matti, Lindberg, Christopher, Bindoff, Laurence A., Tulinius, Már, Darin, Niklas, Sofou, Kalliopi

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Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome von Gerards, M, Sluiter, W, van den Bosch, B J C, de Wit, L E A, Calis, C M H, Frentzen, M, Akbari, H, Schoonderwoerd, K, Scholte, H R, Jongbloed, R J, Hendrickx, A T M, de Coo, I F M, Smeets, H J M

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Evaluation of the new ICHD-III beta cluster headache criteria von de Coo, IF, Wilbrink, LA, Haan, J, Ferrari, MD, Terwindt, GM

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Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects von de Wit, M C Y, Kros, J M, Halley, D J J, de Coo, I F M, Verdijk, R, Jacobs, B C, Mancini, G M S

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