Decreased mitochondrial respiration in aneurysmal aortas of Fibulin-4 mutant mice is linked to PGC1A regulation
van der Pluijm, Ingrid, Burger, Joyce, van Heijningen, Paula M, IJpma, Arne, van Vliet, Nicole, Milanese, Chiara, Schoonderwoerd, Kees, Sluiter, Willem, Ringuette, Lea-Jeanne, Dekkers, Dirk H W, Que, Ivo, Kaijzel, Erik L, te Riet, Luuk, MacFarlane, Elena G, Das, Devashish, van der Linden, Reinier, Vermeij, Marcel, Demmers, Jeroen A, Mastroberardino, Pier G, Davis, Elaine C, Yanagisawa, Hiromi, Dietz, Harry C, Kanaar, Roland, Essers, Jeroen
Published in Cardiovascular research (01.11.2018)
Published in Cardiovascular research (01.11.2018)
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Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause
Theunissen, Tom E J, Nguyen, Minh, Kamps, Rick, Hendrickx, Alexandra T, Sallevelt, Suzanne C E H, Gottschalk, Ralph W H, Calis, Chantal M, Stassen, Alphons P M, de Koning, Bart, Mulder-Den Hartog, Elvira N M, Schoonderwoerd, Kees, Fuchs, Sabine A, Hilhorst-Hofstee, Yvonne, de Visser, Marianne, Vanoevelen, Jo, Szklarczyk, Radek, Gerards, Mike, de Coo, Irenaeus F M, Hellebrekers, Debby M E I, Smeets, Hubert J M
Published in Frontiers in genetics (12.10.2018)
Published in Frontiers in genetics (12.10.2018)
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Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype
Hellebrekers, Debby M E I, Sallevelt, Suzanne C E H, Theunissen, Tom E J, Hendrickx, Alexandra T M, Gottschalk, Ralph W, Hoeijmakers, Janneke G J, Habets, Daphna D, Bierau, Jörgen, Schoonderwoerd, Kees G, Smeets, Hubert J M
Published in European journal of human genetics : EJHG (01.06.2017)
Published in European journal of human genetics : EJHG (01.06.2017)
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Journal Article
Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing
Theunissen, Tom E.J., MSc, Sallevelt, Suzanne C.E.H., MD, Hellebrekers, Debby M.E.I., PhD, de Koning, Bart, PhD, Hendrickx, Alexandra T.M., BASc, van den Bosch, Bianca J.C., PhD, Kamps, Rick, BASc, Schoonderwoerd, Kees, PhD, Szklarczyk, Radek, PhD, Mulder-Den Hartog, Elvira N.M., MSc, de Coo, Irenaeus F.M., MD, PhD, Smeets, Hubert J.M., PhD
Published in The Journal of pediatrics (01.03.2017)
Published in The Journal of pediatrics (01.03.2017)
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Post-natal myogenic and adipogenic developmental: Defects and metabolic impairment upon loss of A-type lamins
Kubben, Nard, Voncken, Jan Willem, Konings, Gonda, van Weeghel, Michel, van den Hoogenhof, Maarten M.G., Gijbels, Marion, van Erk, Arie, Schoonderwoerd, Kees, van den Bosch, Bianca, Dahlmans, Vivian, Calis, Chantal, Houten, Sander M., Misteli, Tom, Pinto, Yigal M.
Published in Nucleus (Austin, Tex.) (01.05.2011)
Published in Nucleus (Austin, Tex.) (01.05.2011)
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Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect
Theunissen, Tom E J, Gerards, Mike, Hellebrekers, Debby M E I, van Tienen, Florence H, Kamps, Rick, Sallevelt, Suzanne C E H, Hartog, Elvira N M M-D, Scholte, Hans R, Verdijk, Robert M, Schoonderwoerd, Kees, de Coo, Irenaeus F M, Szklarczyk, Radek, Smeets, Hubert J M
Published in Frontiers in molecular neuroscience (18.10.2017)
Published in Frontiers in molecular neuroscience (18.10.2017)
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Cardiac Involvement in Adults With m.3243A>G MELAS Gene Mutation
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
Published in The American journal of cardiology (15.01.2007)
Published in The American journal of cardiology (15.01.2007)
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Role of lipoprotein lipases in postprandial lipid metabolism
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Conference Proceeding
A MELAS-Associated ND1 Mutation Causing Leber Hereditary Optic Neuropathy and Spastic Dystonia
Spruijt, Liesbeth, Smeets, Hubert J, Hendrickx, Alexandra, Bettink-Remeijer, Marijke Wefers, Maat-Kievit, A, Schoonderwoerd, Kees C, Sluiter, Wim, de Coo, Ireneaus F, Hintzen, Rogier Q
Published in Archives of neurology (Chicago) (01.06.2007)
Published in Archives of neurology (Chicago) (01.06.2007)
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Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy
Gerards, Mike, van den Bosch, Bianca, Calis, Chantal, Schoonderwoerd, Kees, van Engelen, Klaartje, Tijssen, Marina, de Coo, René, van der Kooi, Anneke, Smeets, Hubert
Published in Mitochondrion (01.08.2010)
Published in Mitochondrion (01.08.2010)
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Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development
Kuil, Laura E., López Martí, Anna, Carreras Mascaro, Ana, Bosch, Jeroen C., Berg, Paul, Linde, Herma C., Schoonderwoerd, Kees, Ruijter, George J. G., Ham, Tjakko J.
Published in Glia (01.09.2019)
Published in Glia (01.09.2019)
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Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome
GERARDS, Mike, KAMPS, Rick, RATBI, Ilham, COPPIETERS, Wouter, KARIM, Latifa, DE COO, René, VAN DEN BOSCH, Bianca, SMELTS, Hubert, VAN OEVELEN, Jo, BOESTEN, Iris, JONGEN, Eveline, DE KONING, Bart, SCHOLTE, Hans R, DE ANGST, Isabel, SCHOONDERWOERD, Kees, SEFIANI, Abdelaziz
Published in Brain (London, England : 1878) (01.03.2013)
Published in Brain (London, England : 1878) (01.03.2013)
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Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients
Chapel-Crespo, Cristel, Gavrilov, Dimitar, Sowa, Mary, Myers, Jessica, Day-Salvatore, Debra-Lynn, Lynn, Haley, Regier, Debra, Starin, Danielle, Steenari, Maija, Schoonderwoerd, Kees, Abdenur, Jose E.
Published in Molecular genetics and metabolism (01.09.2019)
Published in Molecular genetics and metabolism (01.09.2019)
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Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency
Olgiati, Simone, Skorvanek, Matej, Quadri, Marialuisa, Minneboo, Michelle, Graafland, Josja, Breedveld, Guido J., Bonte, Ramon, Ozgur, Zeliha, van den Hout, Mirjam C.G.N., Schoonderwoerd, Kees, Verheijen, Frans W., van IJcken, Wilfred F.J., Chien, Hsin Fen, Barbosa, Egberto Reis, Chang, Hsiu-Chen, Lai, Szu-Chia, Yeh, Tu-Hsueh, Lu, Chin-Song, Wu-Chou, Yah-Huei, Kievit, Anneke J.A., Han, Vladimir, Gdovinova, Zuzana, Jech, Robert, Hofstra, Robert M.W., Ruijter, George J.G., Mandemakers, Wim, Bonifati, Vincenzo
Published in Movement disorders (01.07.2016)
Published in Movement disorders (01.07.2016)
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Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease
Kamps, Rick, Szklarczyk, Radek, Theunissen, Tom E, Hellebrekers, Debby M E I, Sallevelt, Suzanne C E H, Boesten, Iris B, de Koning, Bart, van den Bosch, Bianca J, Salomons, Gajja S, Simas-Mendes, Marisa, Verdijk, Rob, Schoonderwoerd, Kees, de Coo, Irenaeus F M, Vanoevelen, Jo M, Smeets, Hubert J M
Published in European journal of human genetics : EJHG (01.04.2018)
Published in European journal of human genetics : EJHG (01.04.2018)
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Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene
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
Published in Brain (London, England : 1878) (2011)
Published in Brain (London, England : 1878) (2011)
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Journal Article
Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy
Gerards, Mike, van den Bosch, Bianca, Calis, Chantal, Schoonderwoerd, Kees, van Engelen, Klaartje, Tijssen, Marina, de Coo, René, van der Kooi, Anneke, Smeets, Hubert
Published in Mitochondrion (01.08.2010)
Published in Mitochondrion (01.08.2010)
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Inherited metabolic disorders: Quality management for laboratory diagnosis
Verma, Jyotsna, Thomas, Divya C., Sharma, Sandeepika, Jhingan, Geetu, Singh, Azad, Hsiao, Kwang-Jen, Schoonderwoerd, Kees, Puri, Ratna D., Verma, Ishwar C.
Published in Clinica chimica acta (20.07.2015)
Published in Clinica chimica acta (20.07.2015)
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Early Exercise Training Normalizes Myofilament Function and Attenuates Left Ventricular Pump Dysfunction in Mice With a Large Myocardial Infarction
de Waard, Monique C, van der Velden, Jolanda, Bito, Virginie, Ozdemir, Semir, Biesmans, Liesbeth, Boontje, Nicky M, Dekkers, Dick H.W, Schoonderwoerd, Kees, Schuurbiers, Hans C.H, de Crom, Rini, Stienen, Ger J.M, Sipido, Karin R, Lamers, Jos M.J, Duncker, Dirk J
Published in Circulation research (13.04.2007)
Published in Circulation research (13.04.2007)
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Journal Article
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency: ECHS1 Mutations, Dystonia, and PED
Olgiati, Simone, Skorvanek, Matej, Quadri, Marialuisa, Minneboo, Michelle, Graafland, Josja, Breedveld, Guido J., Bonte, Ramon, Ozgur, Zeliha, van den Hout, Mirjam C.G.N., Schoonderwoerd, Kees, Verheijen, Frans W., van IJcken, Wilfred F.J., Chien, Hsin Fen, Barbosa, Egberto Reis, Chang, Hsiu-Chen, Lai, Szu-Chia, Yeh, Tu-Hsueh, Lu, Chin-Song, Wu-Chou, Yah-Huei, Kievit, Anneke J.A., Han, Vladimir, Gdovinova, Zuzana, Jech, Robert, Hofstra, Robert M.W., Ruijter, George J.G., Mandemakers, Wim, Bonifati, Vincenzo
Published in Movement disorders (01.07.2016)
Published in Movement disorders (01.07.2016)
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