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Extracellular 4′-phosphopantetheine is a source for intracellular coenzyme A synthesis
Srinivasan, Balaji, Baratashvili, Madina, van der Zwaag, Marianne, Kanon, Bart, Colombelli, Cristina, Lambrechts, Roald A, Schaap, Onno, Nollen, Ellen A, Podgoršek, Ajda, Kosec, Gregor, Petković, Hrvoje, Hayflick, Susan, Tiranti, Valeria, Reijngoud, Dirk-Jan, Grzeschik, Nicola A, Sibon, Ody C M
Published in Nature chemical biology (01.10.2015)
Published in Nature chemical biology (01.10.2015)
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Journal Article
CoA‐dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases
Lambrechts, Roald A, Schepers, Hein, Yu, Yi, van der Zwaag, Marianne, Autio, Kaija J, Vieira‐Lara, Marcel A, Bakker, Barbara M, Tijssen, Marina A, Hayflick, Susan J, Grzeschik, Nicola A, Sibon, Ody CM
Published in EMBO molecular medicine (01.12.2019)
Published in EMBO molecular medicine (01.12.2019)
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Journal Article
Conventional and novel anti-seizure medications reveal a particular role for GABAA in a North Sea progressive myoclonus Epilepsy Drosophila model
Polet, Sjoukje S., de Koning, Tom J., Lambrechts, Roald A., Tijssen, Marina A.J., Sibon, Ody C.M., Gorter, Jenke A.
Published in Epilepsy research (01.07.2024)
Published in Epilepsy research (01.07.2024)
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Journal Article
Conventional and novel anti-seizure medications reveal a particular role for GABA A in a North Sea progressive myoclonus Epilepsy Drosophila model
Polet, Sjoukje S, de Koning, Tom J, Lambrechts, Roald A, Tijssen, Marina A J, Sibon, Ody C M, Gorter, Jenke A
Published in Epilepsy research (01.07.2024)
Published in Epilepsy research (01.07.2024)
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Journal Article
4′‐Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN
Jeong, Suh Young, Hogarth, Penelope, Placzek, Andrew, Gregory, Allison M, Fox, Rachel, Zhen, Dolly, Hamada, Jeffrey, van der Zwaag, Marianne, Lambrechts, Roald, Jin, Haihong, Nilsen, Aaron, Cobb, Jared, Pham, Thao, Gray, Nora, Ralle, Martina, Duffy, Megan, Schwanemann, Leila, Rai, Puneet, Freed, Alison, Wakeman, Katrina, Woltjer, Randall L, Sibon, Ody CM, Hayflick, Susan J
Published in EMBO molecular medicine (01.12.2019)
Published in EMBO molecular medicine (01.12.2019)
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Journal Article
North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia
Lambrechts, Roald A., Polet, Sjoukje S., Hernandez-Pichardo, Alejandra, van Ninhuys, Lisa, Gorter, Jenke A., Grzeschik, Nicola A., de Koning-Tijssen, Marina A.J., de Koning, Tom J., Sibon, Ody C.M.
Published in Neuroscience (15.12.2019)
Published in Neuroscience (15.12.2019)
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Journal Article
Cortical pencil lining on SWI MRI in NBIA and healthy aging
van der Weijden, Marlous C. M., van Laar, Peter Jan, Lambrechts, Roald A., Verbeek, Dineke S., Tijssen, Marina A. J.
Published in BMC neurology (14.10.2019)
Published in BMC neurology (14.10.2019)
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Journal Article
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study
van Egmond, Martje E., Weijenberg, Amerins, van Rijn, Margreet E., Elting, Jan Willem J., Gelauff, Jeannette M., Zutt, Rodi, Sival, Deborah A., Lambrechts, Roald A., Tijssen, Marina A. J., Brouwer, Oebele F., de Koning, Tom J.
Published in Orphanet journal of rare diseases (07.03.2017)
Published in Orphanet journal of rare diseases (07.03.2017)
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Journal Article