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Items: 1 to 20 of 161

1.

Subject-exoskeleton contact model calibration leads to accurate interaction force predictions.

Serrancoli G, Falisse A, Dembia C, Vantilt J, Tanghe K, Lefeber D, Jonkers I, De Schutter J, De Groote F.

IEEE Trans Neural Syst Rehabil Eng. 2019 Jun 24. doi: 10.1109/TNSRE.2019.2924536. [Epub ahead of print]

PMID:
31247556
2.

Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.

Jaeken J, Lefeber DJ, Matthijs G.

Eur J Hum Genet. 2019 Jun 23. doi: 10.1038/s41431-019-0453-y. [Epub ahead of print]

PMID:
31231132
3.

Model-based control for exoskeletons with series elastic actuators evaluated on sit-to-stand movements.

Vantilt J, Tanghe K, Afschrift M, Bruijnes AKBD, Junius K, Geeroms J, Aertbeliën E, De Groote F, Lefeber D, Jonkers I, De Schutter J.

J Neuroeng Rehabil. 2019 Jun 3;16(1):65. doi: 10.1186/s12984-019-0526-8.

4.

A Variable Stiffness Actuator Module With Favorable Mass Distribution for a Bio-inspired Biped Robot.

Rodriguez-Cianca D, Weckx M, Jimenez-Fabian R, Torricelli D, Gonzalez-Vargas J, Sanchez-Villamañan MC, Sartori M, Berns K, Vanderborght B, Pons JL, Lefeber D.

Front Neurorobot. 2019 May 17;13:20. doi: 10.3389/fnbot.2019.00020. eCollection 2019.

5.

Activity of N-acylneuraminate-9-phosphatase (NANP) is not essential for de novo sialic acid biosynthesis.

Willems AP, Sun L, Schulz MA, Tian W, Ashikov A, van Scherpenzeel M, Hermans E, Clausen H, Yang Z, Lefeber DJ.

Biochim Biophys Acta Gen Subj. 2019 May 20. pii: S0304-4165(19)30132-1. doi: 10.1016/j.bbagen.2019.05.011. [Epub ahead of print]

PMID:
31121216
6.

N-Glycosylation Defects in Man Lower LDL-Cholesterol Through Increased LDL Receptor Expression.

van den Boogert MAW, Larsen LE, Ali L, Kuil SD, Chong PLW, Loregger A, Kroon J, Schnitzler JG, Schimmel AWM, Peter J, Levels JHM, Steenbergen G, Morava E, Dallinga-Thie GM, Wevers RA, Kuivenhoven JA, Hand NJ, Zelcer N, Rader DJ, Stroes ESG, Lefeber DJ, Holleboom AG.

Circulation. 2019 May 23. doi: 10.1161/CIRCULATIONAHA.118.036484. [Epub ahead of print]

PMID:
31117816
7.

Cognitive performance and brain dynamics during walking with a novel bionic foot: A pilot study.

De Pauw K, Cherelle P, Tassignon B, Van Cutsem J, Roelands B, Marulanda FG, Lefeber D, Vanderborght B, Meeusen R.

PLoS One. 2019 Apr 3;14(4):e0214711. doi: 10.1371/journal.pone.0214711. eCollection 2019.

8.

Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.

van Tol W, Michelakakis H, Georgiadou E, van den Bergh P, Moraitou M, Papadimas GK, Papadopoulos C, Huijben K, Alsady M, Willemsen MA, Lefeber DJ.

J Inherit Metab Dis. 2019 Mar 31. doi: 10.1002/jimd.12095. [Epub ahead of print]

PMID:
30931530
9.

Patients with aldolase B deficiency are characterized by an increased intrahepatic triglyceride content.

Simons N, Debray FG, Schaper NC, Kooi ME, Feskens EJM, Hollak CEM, Lindeboom L, Koek GH, Bons JAP, Lefeber DJ, Hodson L, Schalkwijk CG, Stehouwer CDA, Cassiman D, Brouwers MCGJ.

J Clin Endocrinol Metab. 2019 Mar 22. pii: jc.2018-02795. doi: 10.1210/jc.2018-02795. [Epub ahead of print]

PMID:
30901028
10.

Desialylation of platelets induced by Von Willebrand Factor is a novel mechanism of platelet clearance in dengue.

Riswari SF, Tunjungputri RN, Kullaya V, Garishah FM, Utari GSR, Farhanah N, Overheul GJ, Alisjahbana B, Gasem MH, Urbanus RT, de Groot PG, Lefeber DJ, van Rij RP, van der Ven A, de Mast Q.

PLoS Pathog. 2019 Mar 8;15(3):e1007500. doi: 10.1371/journal.ppat.1007500. eCollection 2019 Mar.

11.

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI; EPGEN Study, Ng BG, Freeze HH, Lefeber DJ, Õunap K.

J Inherit Metab Dis. 2019 May;42(3):553-564. doi: 10.1002/jimd.12055. Epub 2019 Feb 11.

PMID:
30746764
12.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E.

J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. Review. Erratum in: J Inherit Metab Dis. 2019 May;42(3):577.

PMID:
30740725
13.

O-glycosylation disorders pave the road for understanding the complex human O-glycosylation machinery.

van Tol W, Wessels H, Lefeber DJ.

Curr Opin Struct Biol. 2019 Jan 29;56:107-118. doi: 10.1016/j.sbi.2018.12.006. [Epub ahead of print] Review.

14.

Combined sialic acid and histone deacetylase (HDAC) inhibitor treatment up-regulates the neuroblastoma antigen GD2.

van den Bijgaart RJE, Kroesen M, Wassink M, Brok IC, Kers-Rebel ED, Boon L, Heise T, van Scherpenzeel M, Lefeber DJ, Boltje TJ, den Brok MH, Hoogerbrugge PM, Büll C, Adema GJ.

J Biol Chem. 2019 Mar 22;294(12):4437-4449. doi: 10.1074/jbc.RA118.002763. Epub 2019 Jan 22.

PMID:
30670592
15.

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García-Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez MR, García-Silva MT, González-Gutiérrez-Solana L, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, Mártinez-Bugallo F, Martín-Viota L, Vitoria-Miñana I, Lefeber DJ, Girós ML, Serrano Gimare M, Ugarte M, Pérez B, Pérez-Cerdá C.

Clin Genet. 2019 May;95(5):615-626. doi: 10.1111/cge.13508. Epub 2019 Apr 3.

PMID:
30653653
16.

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.

Wen XY, Tarailo-Graovac M, Brand-Arzamendi K, Willems A, Rakic B, Huijben K, Da Silva A, Pan X, El-Rass S, Ng R, Selby K, Philip AM, Yun J, Ye XC, Ross CJ, Lehman AM, Zijlstra F, Abu Bakar N, Drögemöller B, Moreland J, Wasserman WW, Vallance H, van Scherpenzeel M, Karbassi F, Hoskings M, Engelke U, de Brouwer A, Wevers RA, Pshezhetsky AV, van Karnebeek CD, Lefeber DJ.

JCI Insight. 2018 Dec 20;3(24). pii: 122373. doi: 10.1172/jci.insight.122373.

17.

The Challenges and Achievements of Experimental Implementation of an Active Transfemoral Prosthesis Based on Biological Quasi-Stiffness: The CYBERLEGs Beta-Prosthesis.

Flynn L, Geeroms J, Jimenez-Fabian R, Heins S, Vanderborght B, Munih M, Molino Lova R, Vitiello N, Lefeber D.

Front Neurorobot. 2018 Dec 4;12:80. doi: 10.3389/fnbot.2018.00080. eCollection 2018.

18.

Powered ankle-foot orthoses: the effects of the assistance on healthy and impaired users while walking.

Moltedo M, Baček T, Verstraten T, Rodriguez-Guerrero C, Vanderborght B, Lefeber D.

J Neuroeng Rehabil. 2018 Oct 1;15(1):86. doi: 10.1186/s12984-018-0424-5. Review.

19.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.

Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK.

Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w.

20.

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.

Abu Bakar N, Voermans NC, Marquardt T, Thiel C, Janssen MCH, Hansikova H, Crushell E, Sykut-Cegielska J, Bowling F, MØrkrid L, Vissing J, Morava E, van Scherpenzeel M, Lefeber DJ.

Transl Res. 2018 Sep;199:62-76. doi: 10.1016/j.trsl.2018.04.008. Epub 2018 May 10.

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