Long‐term follow‐up of type 1 lissencephaly: survival is related to neuroimaging abnormalities von DE WIT, MARIE‐CLAIRE Y, DE RIJK‐VAN ANDEL, JOJANNEKE, HALLEY, DICKY J, PODDIGHE, PINO J, ARTS, WILLEM FRANS M, DE COO, IRENAEUS FM, MANCINI, GRAZIA MS

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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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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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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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RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex von Kheradmand Kia, Sima, Verbeek, Elly, Engelen, Erik, Schot, Rachel, Poot, Raymond A., de Coo, Irenaeus F.M., Lequin, Maarten H., Poulton, Cathryn J., Pourfarzad, Farzin, Grosveld, Frank G., Brehm, António, de Wit, Marie Claire Y., Oegema, Renske, Dobyns, William B., Verheijen, Frans W., Mancini, Grazia M.S.

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Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene von GERARDS, Mike, VAN DEN BOSCH, Bianca J. C, PROKISCH, Holger, RÖTIG, Agnès, DE COO, Irenaeus F. M, SMELTS, Hubert J. M, DANHAUSER, Katharina, SERRE, Valérie, VAN WEEGHEL, Michel, WANDERS, Ronald J. A, NICOLAES, Gerry A. F, SLUITER, Wim, SCHOONDERWOERD, Kees, SCHOLTE, Hans R

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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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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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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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Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy von Verkerk, Annemieke J.M.H., Schot, Rachel, Dumee, Belinda, Schellekens, Karlijn, Swagemakers, Sigrid, Bertoli-Avella, Aida M., Lequin, Maarten H., Dudink, Jeroen, Govaert, Paul, van Zwol, A.L., Hirst, Jennifer, Wessels, Marja W., Catsman-Berrevoets, Coriene, Verheijen, Frans W., de Graaff, Esther, de Coo, Irenaeus F.M., Kros, Johan M., Willemsen, Rob, Willems, Patrick J., van der Spek, Peter J., Mancini, Grazia M.S.

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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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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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What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? von Neeve, Vivienne C. M., Samuels, David C., Bindoff, Laurence A., van den Bosch, Bianca, Van Goethem, Gert, Smeets, Hubert, Lombès, Anne, Jardel, Claude, Hirano, Michio, DiMauro, Salvatore, De Vries, Maaike, Smeitink, Jan, Smits, Bart W., de Coo, Ireneus F. M., Saft, Carsten, Klopstock, Thomas, Keiling, Bianca-Cortina, Czermin, Birgit, Abicht, Angela, Lochmüller, Hanns, Hudson, Gavin, Gorman, Grainne G., Turnbull, Doug M., Taylor, Robert W., Holinski-Feder, Elke, Chinnery, Patrick F., Horvath, Rita

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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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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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Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly von Breedveld, G, de Coo, I F, Lequin, M H, Arts, W F M, Heutink, P, Gould, D B, John, S W M, Oostra, B, Mancini, G M S

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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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Epistemic irrelevance in credal nets: The case of imprecise Markov trees von de Cooman, Gert, Hermans, Filip, Antonucci, Alessandro, Zaffalon, Marco

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PRRT2 MUTATION CAUSES BENIGN FAMILIAL INFANTILE CONVULSIONS von DE VRIES, Boukje, CALLENBACH, Petra M. C, KAMPHORST, Jessica T, WELLER, Claudia M, KOELEWIJN, Stephany C, TEN HOUTEN, Robert, DE COO, Irenaeus F. M, BROUWER, Oebo F, DEN MAAGDENBERG, Arn M. J. M. Van

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Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect von van de Kamp, Jiddeke M., Pouwels, Petra J. W., Aarsen, Femke K., ten Hoopen, Leontine W., Knol, Dirk L., de Klerk, Johannes B., de Coo, Ireneus F., Huijmans, Jan G. M., Jakobs, Cornelis, van der Knaap, Marjo S., Salomons, Gajja S., Mancini, Grazia M. S.

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