The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature von Meuwissen, Marije E. C., Halley, Dicky J. J., Smit, Liesbeth S., Lequin, Maarten H., Cobben, Jan M., de Coo, René, van Harssel, Jeske, Sallevelt, Suzanne, Woldringh, Gwendolyn, van der Knaap, Marjo S., de Vries, Linda S., Mancini, Grazia M. S.

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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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Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene von Huijmans, Jan G. M., Schot, Rachel, de Klerk, Johannis B. C., Williams, Monique, de Coo, René F. M., Duran, Marinus, Verheijen, Frans W., van Slegtenhorst, Marjon, Mancini, Grazia M. S.

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Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients von ten Dam, Leroy, Frankhuizen, Wendy S., Linssen, Wim H.J.P., Straathof, Chiara S., Niks, Erik H., Faber, Karin, Fock, Annemarie, Kuks, Jan B., Brusse, Esther, de Coo, René, Voermans, Nicol, Verrips, Aad, Hoogendijk, Jessica E., van der Pol, Ludo, Westra, Dineke, de Visser, Marianne, van der Kooi, Anneke J., Ginjaar, Ieke

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CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia von Mancini, Grazia M.S, Schot, Rachel, de Wit, Marie Claire Y, de Coo, René F, Oostenbrink, Rianne, Bindels-de Heus, Karen, Berger, Lieke P.V, Lequin, Maarten H, de Vries, Femke A.T, Wilke, Martina, van Slegtenhorst, Marjon A

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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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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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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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Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells von Raap, Anton K, Jahangir Tafrechi, Roshan S, van de Rijke, Frans M, Pyle, Angela, Wählby, Carolina, Szuhai, Karoly, Ravelli, Raimond B G, de Coo, René F M, Rajasimha, Harsha K, Nilsson, Mats, Chinnery, Patrick F, Samuels, David C, Janssen, George M C

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Cardiac Involvement in Adults With m.3243A>G MELAS Gene Mutation von Vydt, Tom C.G., MD, de Coo, René F.M., MD, PhD, Soliman, Osama I.I., MD, ten Cate, Folkert J., MD, PhD, van Geuns, Robert-Jan M., MD, PhD, Vletter, Wim B., BSc, Schoonderwoerd, Kees, PhD, van den Bosch, Bianca J.C., PhD, Smeets, Hubert J.M., PhD, Geleijnse, Marcel L., MD, PhD

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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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Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background von Hudson, Gavin, Carelli, Valerio, Spruijt, Liesbeth, Gerards, Mike, Mowbray, Catherine, Achilli, Alessandro, Pyle, Angela, Elson, Joanna, Howell, Neil, La Morgia, Chiara, Valentino, Maria Lucia, Huoponen, Kirsi, Savontaus, Marja-Liisa, Nikoskelainen, Eeva, Sadun, Alfredo A., Salomao, Solange R., Belfort, Rubens, Griffiths, Philip, Man, Patrick Yu Wai, de Coo, Rene F.M., Horvath, Rita, Zeviani, Massimo, Smeets, Hubert J.T., Torroni, Antonio, Chinnery, Patrick F.

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Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease von Gerards, Mike, de Coo, René, Smeets, Hubert

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Familial Partial Epilepsy with Variable Foci in a Dutch Family: Clinical Characteristics and Confirmation of Linkage to Chromosome 22q von Callenbach, Petra M. C., Van Den Maagdenberg, Arn M. J. M., Hottenga, Jouke J., Van Den Boogerd, Eelke H., De Coo, René F. M., Lindhout, Dick, Frants, Rune R., Sandkuijl, Lodewijk A., Brouwer, Oebele F.

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A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening von Veldman, Abigail, Kiewiet, M. B. Gea, Westra, Dineke, Bosch, Annet M, Brands, Marion M. G, de Coo, René I. F. M, Derks, Terry G. J, Fuchs, Sabine A, van den Hout, Johanna. M. P, Huidekoper, Hidde H, Kluijtmans, Leo A. J, Koop, Klaas, Lubout, Charlotte M. A, Mulder, Margaretha F, Panis, Bianca, Rubio-Gozalbo, M. Estela, de Sain-van der Velden, Monique G, Schaefers, Jaqueline, Schreuder, Andrea B, Visser, Gepke, Wevers, Ron A, Wijburg, Frits A, Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J

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Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy von Gerards, Mike, van den Bosch, Bianca, Calis, Chantal, Schoonderwoerd, Kees, van Engelen, Klaartje, Tijssen, Marina, de Coo, René, van der Kooi, Anneke, Smeets, Hubert

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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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Regional absence of mitochondria causing energy depletion in the myocardium of muscle LIM protein knockout mice von VAN DEN BOSCH, Bianca J. C, VAN DEN BURG, Caroline M. M, SCHOONDERWOERD, Kees, LINDSEY, Patrick J, SCHOLTE, Hans R, DE COO, René F. M, VAN ROOIJ, Eva, ROCKMAN, Howard A, DOEVENDANS, Pieter A, SMEETS, Hubert J. M

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Aortic distensibility alterations in adults with m.3243A>G MELAS gene mutation von Nemes, Attila, Geleijnse, Marcel L, Sluiter, Wim, Vydt, Tom C G, Soliman, Osama I I, van Dalen, Bas M, Vletter, Wim B, ten Cate, Folkert J, Smeets, Hubert J M, de Coo, René F M

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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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