Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis von Dlamini, N, Voermans, N.C, Lillis, S, Stewart, K, Kamsteeg, E.-J, Drost, G, Quinlivan, R, Snoeck, M, Norwood, F, Radunovic, A, Straub, V, Roberts, M, Vrancken, A.F.J.E, van der Pol, W.L, de Coo, R.I.F.M, Manzur, A.Y, Yau, S, Abbs, S, King, A, Lammens, M, Hopkins, P.M, Mohammed, S, Treves, S, Muntoni, F, Wraige, E, Davis, M.R, van Engelen, B, Jungbluth, H

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The impact of gender, puberty, and pregnancy in patients with POLG disease von Hikmat, Omar, Naess, Karin, Engvall, Martin, Klingenberg, Claus, Rasmussen, Magnhild, Tallaksen, Chantal M. E., Samsonsen, Christian, Brodtkorb, Eylert, Ostergaard, Elsebet, de Coo, Rene, Pias‐Peleteiro, Leticia, Isohanni, Pirjo, Uusimaa, Johanna, Darin, Niklas, Rahman, Shamima, Bindoff, Laurence A.

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Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients von Carrozzo, Rosalba, Verrigni, Daniela, Rasmussen, Magnhild, de Coo, Rene, Amartino, Hernan, Bianchi, Marzia, Buhas, Daniela, Mesli, Samir, Naess, Karin, Born, Alfred Peter, Woldseth, Berit, Prontera, Paolo, Batbayli, Mustafa, Ravn, Kirstine, Joensen, Fróði, Cordelli, Duccio M., Santorelli, Filippo Maria, Tulinius, Mar, Darin, Niklas, Duno, Morten, Jouvencel, Philippe, Burlina, Alberto, Stangoni, Gabriela, Bertini, Enrico, Redonnet-Vernhet, Isabelle, Wibrand, Flemming, Dionisi-Vici, Carlo, Uusimaa, Johanna, Vieira, Paivi, Osorio, Andrés Nascimento, McFarland, Robert, Taylor, Robert W., Holme, Elisabeth, Ostergaard, Elsebet

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Refinement of the chromosome 16 locus for benign familial infantile convulsions von Callenbach, PMC, Van Den Boogerd, EH, De Coo, RFM, Ten Houten, R, Oosterwijk, JC, Hageman, G, Frants, RR, Brouwer, OF, Van Den Maagdenberg, AMJM

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Pitfalls in the Diagnosis of Multiple Sulfatase Deficiency von Mancini, Grazia M. S., van Diggelen, O. P., Huijmans, J. G., Stroink, H., de Coo, R. F. M.

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Interrater agreement of the diagnosis and classification of a first seizure in childhood. The Dutch Study of Epilepsy in Childhood von Stroink, H, van Donselaar, C A, Geerts, A T, Peters, A C B, Brouwer, O F, van Nieuwenhuizen, O, de Coo, R F M, Geesink, H, Arts, W F M

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C.P.3 Genetic and clinical heterogeneity of RYR1-related myopathies in a cohort of 60 Dutch families with identification of 40 novel mutations von Voermans, N.C, Jungbluth, H, Raaphorst, J, Snoeck, M, Straathof, C, Schelhaas, H.J, Sie, L, de Coo, R, van de Pol, W, de Visser, M, Scheffer, H, Kamsteeg, E.J, van Engelen, B.G.M

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Significance of Respirasomes for the Assembly/Stability of Human Respiratory Chain Complex I von Schägger, Hermann, de Coo, René, Bauer, Matthias F, Hofmann, Sabine, Godinot, Catherine, Brandt, Ulrich

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Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease von SISTERMANS, E. A, DE COO, R. F. M, DE WIJS, I. J, VAN OOST, B. A

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Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status von Domburg, P. H. M. F. van, Gabreëls-Festen, A. A. W. M., Gabreëls, F. J. M., Coo, R. de, Ruitenbeek, W., Wesseling, P., Laak, H. ter

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Changes in Globus Pallidus With (Pre)Term Kernicterus von Govaert, Paul, Lequin, Maarten, Swarte, Renate, Robben, Simon, De Coo, Rene, Weisglas-Kuperus, Nynke, De Rijke, Yolanda, Sinaasappel, Maarten, Barkovich, James

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Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene von de Coo, René, Buddiger, Paul, Smeets, Hubert, van Kessel, Ad Geurts, Morgan-Hughes, John, Weghuis, Daniël Olde, Overhauser, Joan, van Oost, Bernard

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Molecular Cloning and Characterization of the Human Mitochondrial NADH:Oxidoreductase 10-kDa Gene (NDUFV3) von de Coo, René F.M., Buddiger, Paul, Smeets, Hubert J.M., van Oost, Bernard A.

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Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography von van Den Bosch, B J, de Coo, R F, Scholte, H R, Nijland, J G, van Den Bogaard, R, de Visser, M, de Die-Smulders, C E, Smeets, H J

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Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems von Brooks, Alice S., Bertoli-Avella, Aida M., Burzynski, Grzegorz M., Breedveld, Guido J., Osinga, Jan, Boven, Ludolf G., Hurst, Jane A., Mancini, Grazia M.S., Lequin, Maarten H., de Coo, Rene F., Matera, Ivana, de Graaff, Esther, Meijers, Carel, Willems, Patrick J., Tibboel, Dick, Oostra, Ben A., Hofstra, Robert M.W.

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Influence of Mutation Type on Clinical Expression of Leber Hereditary Optic Neuropathy von Spruijt, Liesbeth, Kolbach, Dinanda N., de Coo, Rene F., Plomp, Astrid S., Bauer, Noel J., Smeets, Hubertus J., de Die-Smulders, Christine E.M.

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A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family von SISTERMANS, E. A, DE WIJS, I. J, DE COO, R. F. M, SMIT, L. M. E, MENKO, F. H, VAN OOST, B. A

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Non-Random mtDNA Segregation Patterns Indicate a Metastable Heteroplasmic Segregation Unit in m.3243A>G Cybrid Cells von Raap, A. K., Jahangir Tafrechi, R. S., van de Rijke, F. M., Pyle, A., Wählby, Carolina, Szuhai, K., Ravelli, R. B. G., de Coo, R. F. M., Rajasimha, H. K., Nilsson, Mats, Chinnery, P. F., Samuels, D. C., Janssen, G. M. C.

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Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population von Sistermans, E A, de Coo, R F, van Beerendonk, H M, Poll-The, B T, Kleijer, W J, van Oost, B A

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Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts von Procaccio, V, Mousson, B, Beugnot, R, Duborjal, H, Feillet, F, Putet, G, Pignot-Paintrand, I, Lombès, A, De Coo, R, Smeets, H, Lunardi, J, Issartel, J P

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