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Maroofian, Reza, Riemersma, Moniek, Jae, Lucas T, Zhianabed, Narges, Willemsen, Marjolein H, Wissink-Lindhout, Willemijn M, Willemsen, Michèl A, de Brouwer, Arjan P M, Mehrjardi, Mohammad Yahya Vahidi, Ashrafi, Mahmoud Reza, Kusters, Benno, Kleefstra, Tjitske, Jamshidi, Yalda, Nasseri, Mojila, Pfundt, Rolph, Brummelkamp, Thijn R, Abbaszadegan, Mohammad Reza, Lefeber, Dirk J, van Bokhoven, Hans
Published in Genome medicine (22.12.2017)
Published in Genome medicine (22.12.2017)
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Van De Velde, Gabriël, Verrelst, Björn, Lefeber, Dirk, Guillaume, Patrick
Published in Machines (Basel) (01.12.2020)
Published in Machines (Basel) (01.12.2020)
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A Variable Stiffness Actuator Module With Favorable Mass Distribution for a Bio-inspired Biped Robot
Rodriguez-Cianca, David, Weckx, Maarten, Jimenez-Fabian, Rene, Torricelli, Diego, Gonzalez-Vargas, Jose, Sanchez-Villamañan, M Carmen, Sartori, Massimo, Berns, Karsten, Vanderborght, Bram, Pons, J Luis, Lefeber, Dirk
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Published in Frontiers in neurorobotics (17.05.2019)
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B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement
Guillard, Maïlys, Morava, Eva, MD, PhD, de Ruijter, Jorg, Roscioli, Tony, MD, PhD, Penzien, Johann, MD, PhD, van den Heuvel, Lambert, PhD, Willemsen, Michel A., MD, PhD, de Brouwer, Arjan, PhD, Bodamer, Olaf A., MD, PhD, Wevers, Ron A., PhD, Lefeber, Dirk J., PhD
Published in The Journal of pediatrics (01.12.2011)
Published in The Journal of pediatrics (01.12.2011)
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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
Hucthagowder, Vishwanathan, Morava, Eva, Kornak, Uwe, Lefeber, Dirk J., Fischer, Björn, Dimopoulou, Aikaterini, Aldinger, Annika, Choi, Jiwon, Davis, Elaine C., Abuelo, Dianne N., Adamowicz, Maciej, Al-Aama, Jumana, Basel-Vanagaite, Lina, Fernandez, Bridget, Greally, Marie T., Gillessen-Kaesbach, Gabriele, Kayserili, Hulya, Lemyre, Emmanuelle, Tekin, Mustafa, Türkmen, Seval, Tuysuz, Beyhan, Yüksel-Konuk, Berrin, Mundlos, Stefan, Van Maldergem, Lionel, Wevers, Ron A., Urban, Zsolt
Published in Human molecular genetics (15.06.2009)
Published in Human molecular genetics (15.06.2009)
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A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia
MORAVA, Eva, ZEEVAERT, Renate, KORSCH, Eckhard, HUIJBEN, Karin, WOPEREIS, Suzan, MATTHIJS, Gert, KEYMOLEN, Kathelijn, LEFEBER, Dirk J, DE MEIRLEIR, Linda, WEVERS, Ron A
Published in European journal of human genetics : EJHG (01.06.2007)
Published in European journal of human genetics : EJHG (01.06.2007)
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N -acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function
Da Silva, Afitz, Dort, Junio, Orfi, Zakaria, Pan, Xuefang, Huang, Sjanie, Kho, Ikhui, Heckel, Emilie, Muscarnera, Giacomo, van Vliet, Patrick Piet, Sturiale, Luisa, Messina, Angela, Romeo, Donata Agata, van Karnebeek, Clara D M, Wen, Xiao-Yan, Hinek, Aleksander, Molina, Thomas, Andelfinger, Gregor, Ellezam, Benjamin, Yamanaka, Yojiro, Olivos, Hernando J, Morales, Carlos R, Joyal, Jean-Sébastien, Lefeber, Dirk J, Garozzo, Domenico, Dumont, Nicolas A, Pshezhetsky, Alexey V
Published in Science advances (30.06.2023)
Published in Science advances (30.06.2023)
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MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis
Yen-Nicolaÿ, Stéphanie, Boursier, Céline, Rio, Marlène, Lefeber, Dirk J., Pilon, Antoine, Seta, Nathalie, Bruneel, Arnaud
Published in Proteomics. Clinical applications (01.08.2015)
Published in Proteomics. Clinical applications (01.08.2015)
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Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy
Revilla, Nuria, de la Morena-Barrio, María Eugenia, Miñano, Antonia, López-Gálvez, Raquel, Toderici, Mara, Padilla, José, García-Avello, Ángel, Lozano, María Luisa, Lefeber, Dirk J., Corral, Javier, Vicente, Vicente
Published in Scientific reports (17.03.2017)
Published in Scientific reports (17.03.2017)
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220th ENMC workshop: Dystroglycan and the dystroglycanopathies Naarden, The Netherlands, 27–29 May 2016
Brown, Susan C., Winder, Steve J., Bevan, Neil, Bevan, Lyndsey, Brown, Sue, van Bokhoven, Hans, Campbell, Kevin, Cirak, Sebahattin, Cisneros, Bulmaro, Colognato, Holly, Hohenester, Erhard, Lefeber, Dirk, Liljedahl, Monika, Lin, Yung-Yao, Lu, Qi, Seta, Natalie, Lefeber, Dirk J., Honenester, Erherd, Shcherbata, Halyna, Straub, Volker, Winder, Steve
Published in Neuromuscular disorders : NMD (01.04.2017)
Published in Neuromuscular disorders : NMD (01.04.2017)
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Introduction of a redundant actuator using planetary gear trains for human centred robotics
Crispel, Stein, López-García, Pablo, Verstraten, Tom, Saerens, Elias, Lefeber, Dirk
Published in MATEC Web of Conferences (2020)
Published in MATEC Web of Conferences (2020)
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Whole Body Awareness for Controlling a Robotic Transfemoral Prosthesis
Parri, Andrea, Martini, Elena, Geeroms, Joost, Flynn, Louis, Pasquini, Guido, Crea, Simona, Molino Lova, Raffaele, Lefeber, Dirk, Kamnik, Roman, Munih, Marko, Vitiello, Nicola
Published in Frontiers in neurorobotics (30.05.2017)
Published in Frontiers in neurorobotics (30.05.2017)
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Novel SPECTA Actuator to Improve Energy Recuperation and Efficiency
Saerens, Elias, Furnémont, Raphaël Guy, Legrand, Julie, Crispel, Stein, Lopez Garcia, Pablo, Verstraten, Tom, Vanderborght, Bram, Lefeber, Dirk
Published in Actuators (01.03.2022)
Published in Actuators (01.03.2022)
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Mathijssen, Glenn, Cherelle, Pierre, Lefeber, Dirk, Vanderborght, Bram
Published in Actuators (01.09.2013)
Published in Actuators (01.09.2013)
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Perinatal and early infantile symptoms in congenital disorders of glycosylation
Funke, Simone, Gardeitchik, Thatjana, Kouwenberg, Dorus, Mohamed, Miski, Wortmann, Saskia B., Korsch, Eckhard, Adamowicz, Maciej, Al‐Gazali, Lihadh, Wevers, Ron A., Horvath, Adrienne, Lefeber, Dirk J., Morava, Éva
Published in American journal of medical genetics. Part A (01.03.2013)
Published in American journal of medical genetics. Part A (01.03.2013)
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A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype
Iqbal, Zafar, Shahzad, Mohsin, Vissers, Lisenka E L M, van Scherpenzeel, Monique, Gilissen, Christian, Razzaq, Attia, Zahoor, Muhammad Yasir, Khan, Shaheen N, Kleefstra, Tjitske, Veltman, Joris A, de Brouwer, Arjan P M, Lefeber, Dirk J, van Bokhoven, Hans, Riazuddin, Sheikh
Published in European journal of human genetics : EJHG (01.08.2013)
Published in European journal of human genetics : EJHG (01.08.2013)
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Passive Ankle-Foot Prosthesis Prototype with Extended Push-Off
Brackx, Branko, Van Damme, Michaël, Matthys, Arnout, Vanderborght, Bram, Lefeber, Dirk
Published in International journal of advanced robotic systems (06.02.2013)
Published in International journal of advanced robotic systems (06.02.2013)
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From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)
Kapusta, Livia, Zucker, Nili, Frenckel, George, Medalion, Benjamin, Gal, Tuvia Ben, Birk, Einat, Mandel, Hanna, Nasser, Nadim, Morgenstern, Sarah, Zuckermann, Andreas, Lefeber, Dirk J., de Brouwer, Arjen, Wevers, Ron A., Lorber, Avraham, Morava, Eva
Published in Heart failure reviews (01.03.2013)
Published in Heart failure reviews (01.03.2013)
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