Biochemical Competition Makes Fatty-Acid β-Oxidation Vulnerable to Substrate Overload

di van Eunen, Karen, Simons, Sereh M. J., Gerding, Albert, Bleeker, Aycha, den Besten, Gijs, Touw, Catharina M. L., Houten, Sander M., Groen, Bert K., Krab, Klaas, Reijngoud, Dirk-Jan, Bakker, Barbara M.
Pubblicazione 2013

Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders

di van Eunen, Karen, Volker-Touw, Catharina M. L., Gerding, Albert, Bleeker, Aycha, Wolters, Justina C., van Rijt, Willemijn J., Martines, Anne-Claire M. F., Niezen-Koning, Klary E., Heiner, Rebecca M., Permentier, Hjalmar, Groen, Albert K., Reijngoud, Dirk-Jan, Derks, Terry G. J., Bakker, Barbara M.
Pubblicato in BMC Biol (2016)

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

di Touw, Catharina M L, Smit, G Peter A, de Vries, Maaike, de Klerk, Johannis B C, Bosch, Annet M, Visser, Gepke, Mulder, Margot F, Rubio-Gozalbo, M Estela, Elvers, Bert, Niezen-Koning, Klary E, Wanders, Ronald J A, Waterham, Hans R, Reijngoud, Dirk-Jan, Derks, Terry G J
Pubblicazione 2012

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

di Tanaka, Akemi J., Cho, Megan T., Millan, Francisca, Juusola, Jane, Retterer, Kyle, Joshi, Charuta, Niyazov, Dmitriy, Garnica, Adolfo, Gratz, Edward, Deardorff, Matthew, Wilkins, Alisha, Ortiz-Gonzalez, Xilma, Mathews, Katherine, Panzer, Karin, Brilstra, Eva, van Gassen, Koen L.I., Volker-Touw, Catharina M.L., van Binsbergen, Ellen, Sobreira, Nara, Hamosh, Ada, McKnight, Dianalee, Monaghan, Kristin G., Chung, Wendy K.
Pubblicato in Am J Hum Genet (2015)

NBEA: developmental disease gene with early generalized epilepsy phenotypes

di Mulhern, Maureen S., Stumpel, Constance, Stong, Nicholas, Brunner, Han G., Bier, Louise, Lippa, Natalie, Riviello, James, Rouhl, Rob P.W., Kempers, Marlies, Pfundt, Rolph, Stegmann, Alexander P.A., Kukolich, Mary K., Telegrafi, Aida, Lehman, Anna, Lopez-Rangel, Elena, Houcinat, Nada, Barth, Magalie, den Hollander, Nicolette, Hoffer, Mariette JV, Weckhuysen, Sarah, Roovers, Jolien, Djemie, Tania, Barca, Diana, Ceulemans, Berten, Craiu, Dana, Lemke, Johannes R., Korff, Christian, Mefford, Heather C., Meyers, Candace T., Siegler, Zsuzsanna, Hiatt, Susan M., Cooper, Gregory M., Bebin, E. Martina, Snijders-Blok, Lot, Veenstra-Knol, Hermine E., Baugh, Evan H., Brilstra, E.H., Volker-Touw, Catharina M.L., van Binsbergen, Ellen, Revah-Politi, Anya, Pereira, Elaine, McBrian, Danielle, Pacault, Mathilde, Isidor, Bertrand, Le Caignec, Cedric, Gilbert-Dussardier, Brigitte, Bilan, Frederic, Heinzen, Erin L., Goldstein, David B., Stevens, Servi J. C., Sands, Tristan T.
Pubblicato in Ann Neurol (2018)

The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies

di Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M.H.F., Brilstra, Eva H., Brown, Chester W., Brüggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D’Hooghe, Marc, de Vries, Bert B.A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Zepeda Mendoza, Cinthya J., Menten, Björn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Piña Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L.P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M.L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.
Pubblicato in Nat Genet (2016)