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C. Jakobs

pennsylvania commonwealth system of higher education (pcshe)

52H指数
283论文数
1.0W被引数
收录论文 48
发表时间
Presynapses contain distinct actin nanostructures
err2023-08-14
err10
errOAAI
errBingham, Dominic; Jakobs, Channa Elise; Wernert, Florian; Boroni-Rueda, Fanny; Jullien, Nicolas; Schentarra, Eva-Maria; Friedl, Karoline; Da Costa Moura, Julie; van Bommel, Danique Michelle; Caillol, Ghislaine; Ogawa, Yuki; Papandreou, Marie-Jeanne; Leterrier, Christophe
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Phenotype and genotype in 101 males with X-linked creatine transporter deficiencyX连锁肌酸转运蛋白缺乏症101男性的表型和基因型
err2013-05-03
err114
errOAAI
errvan de Kamp, J. M.; Betsalel, O. T.; Mercimek-Mahmutoglu, S.; Abulhoul, L.; Gruenewald, S.; Anselm, I.; Azzouz, H.; Bratkovic, D.; de Brouwer, A.; Hamel, B.; Kleefstra, T.; Yntema, H.; Campistol, J.; Vilaseca, M. A.; Cheillan, D.; D'Hooghe, M.; Diogo, L.; Garcia, P.; Valongo, C.; Fonseca, M.; Frints, S.; Wilcken, B.; von der Haar, S.; Meijers-Heijboer, H. E.; Hofstede, F.; Johnson, D.; Kant, S. G.; Lion-Francois, L.; Pitelet, G.; Longo, N.; Maat-Kievit, J. A.; Monteiro, J. P.; Munnich, A.; Muntau, A. C.; Nassogne, M. C.; Osaka, H.; Ounap, K.; Pinard, J. M.; Quijano-Roy, S.; Poggenburg, I.; Poplawski, N.; Abdul-Rahman, O.; Ribes, A.; Arias, A.; Yaplito-Lee, J.; Schulze, A.; Schwartz, C. E.; Schwenger, S.; Soares, G.; Sznajer, Y.; Valayannopoulos, V.; Van Esch, H.; Waltz, S.; Wamelink, M. M. C.; Pouwels, P. J. W.; Errami, A.; van der Knaap, M. S.; Jakobs, C.; Mancini, G. M.; Salomons, G. S.
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Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease胍基乙酸甲基转移酶缺乏症: 新生儿筛查可治疗的神经代谢疾病的第一步
err2012-11-01
err25
PREAI
errMercimek-Mahmutoglu, S.; Sinclair, G.; van Dooren, S. J. M.; Kanhai, W.; Ashcraft, P.; Michel, O. J.; Nelson, J.; Betsalel, O. T.; Sweetman, L.; Jakobs, C.; Salomons, G. S.
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Cellular hypomethylation is associated with impaired nitric oxide production by cultured human endothelial cells
err2011-05-26
err19
errOAAI
errBarroso, M.; Rocha, M. S.; Esse, R.; Goncalves, I., Jr.; Gomes, A. Q.; Teerlink, T.; Jakobs, C.; Blom, H. J.; Loscalzo, J.; Rivera, I.; Tavares de Almeida, I.; Castro, R.
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Accumulation of thymidine-derived sugars in thymidine phosphorylase overexpressing cells
err2010-09-01
err30
errOAAI
errBijnsdorp, I. V.; Azijli, K.; Jansen, E. E.; Wamelink, M. M.; Jakobs, C.; Struys, E. A.; Fukushima, M.; Kruyt, F. A. E.; Peters, G. J.
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CLINICAL, BIOCHEMICAL AND GENETIC FEATURES IN TRANSALDOLASE DEFICIENCY, A NEW DISORDER IN PEDIATRIC HEPATOLOGY
err2010-04-01
err0
PREAI
errWamelink, M. M. C.; Valayannopoulos, V.; Struys, E. A.; Salomons, G. S.; Jakobs, C.
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Combination of CSF N-acetylaspartate and neurofilaments in multiple sclerosis
err2009-04-14
err170
PREAI
errTeunissen, C. E.; Iacobaeus, E.; Khademi, M.; Brundin, L.; Norgren, N.; Koel-Simmelink, M. J. A.; Schepens, M.; Bouwman, F.; Twaalfhoven, H. A. M.; Blom, H. J.; Jakobs, C.; Dijkstra, C. D.
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Mutation analysis a prerequisite for prenatal diagnosis of L-2-hydroxyglutaric aciduria?突变分析是L-2-hydroxyglutaric酸尿症产前诊断的前提?
err2007-08-01
err1
PREAI
errAugoustides-Savvopoulou, P.; Salomons, G. S.; Dotis, J.; Roilides, E.; Leontsini, M.; Jakobs, C.; Panteliadis, C.
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L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model
err2007-05-01
err38
errOAAI
errPenderis, Jacques; Calvin, Jacqui; Abramson, Carley; Jakobs, Cornelis; Pettitt, Louise; Binns, Matthew M.; Verhoeven, Nanda M.; O'Driscoll, Eamonn; Platt, Simon R.; Mellersh, Cathryn S.
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A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal
err2007-05-01
err17
PREAI
errAlmeida, L. S.; Vilarinho, L.; Darmin, P. S.; Rosenberg, E. H.; Martinez-Munoz, C.; Jakobs, C.; Salomons, G. S.
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Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts
err2006-12-01
err6
PREAI
errAlmeida, L. S.; Rosenberg, E. H.; Martinez-Munoz, C.; Verhoeven, N. M.; Vilarinho, L.; Jakobs, C.; Salomons, G. S.
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High frequency of creatine deficiency syndromes in patients with unexplained mental retardation
err2006-11-14
err84
PREAI
errLion-Francois, L.; Cheillan, D.; Pitelet, G.; Acquaviva-Bourdain, C.; Bussy, G.; Cotton, F.; Guibaud, L.; Gerard, D.; Rivier, C.; Vianey-Saban, C.; Jakobs, C.; Salomons, G. S.; Portes, V. des
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High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: Implications for treatment?
err2006-11-01
err15
PREAI
errvan Spronsen, F. J.; Reijngoud, D. J.; Verhoeven, N. M.; Soorani-Lunsing, R. J.; Jakobs, C.; Sijens, P. E.
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Features, treatment, and outcome in an inborn error of creatine synthesis
err2006-08-08
err132
PREAI
errMercimek-Mahmutoglu, S.; Stoeckler-Ipsiroglu, S.; Adami, A.; Appleton, R.; Araujo, H. Caldeira; Duran, M.; Ensenauer, R.; Fernandez-Alvarez, E.; Garcia, P.; Grolik, C.; Item, C. B.; Leuzzi, V.; Marquardt, I.; Muehl, A.; Saelke-Kellermann, R. A.; Salomons, G. S.; Schulze, A.; Surtees, R.; van der Knaap, M. S.; Vasconcelos, R.; Verhoeven, N. M.; Vilarinho, L.; Wilichowski, E.; Jakobs, C.
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D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: Genetic coincidence or a related biochemical epiphenomenon?
err2006-05-01
err11
PREAI
errStruys, EA; Verhoeven, NM; Salomons, GS; Berthelot, J; Vianay-Saban, C; Chabrier, S; Thomas, JA; Tsai, ACH; Gibson, KM; Jakobs, C
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Alexander disease - Ventricular garlands and abnormalities of the medulla and spinal cord
err2006-02-28
err106
PREAI
errvan der Knaap, MS; Ramesh, V; Schiffmann, R; Blaser, S; Kyllerman, M; Gholkar, A; Ellison, DW; van der Voorn, JP; van Dooren, SJM; Jakobs, C; Barkhof, F; Salomons, GS
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