Ghent University Academic Bibliography

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Your filters: cql: author exact 002001372607 or (type any "bookEditor issueEditor" and editor exact 002001372607) cql: subject exact "Biology and Life Sciences"

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Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Nika Schuermans (UGent) , Salima El Chehadeh, Dimitri Hemelsoet (UGent) , Jérémie Gautheron, Marie-Christine Vantyghem, Sonia Nouioua, Meriem Tazir, Corinne Vigouroux, Martine Auclair, Elke Bogaert (UGent) , et al.

(2023) NATURE GENETICS. 55(11). p.1929-1940
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Clinical heterogeneity in MT-ATP6 pathogenic variants : same genotype—different onset

Sara Capiau, Joél Smet (UGent) , Boel De Paepe (UGent) , Yilmaz Yildiz, Mutluay Arslan, Olivier Stevens, Maxime Verschoore (UGent) , Hedwig Stepman (UGent) , Sara Seneca and Arnaud Vanlander (UGent)

(2022) CELLS. 11(3).
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Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function

Karen Rosier, Molly T. McDevitt, Joél Smet (UGent) , Brendan J. Floyd, Maxime Verschoore (UGent) , Maria J. Marcaida, Craig A. Bingman, Irma Lemmens (UGent) , Matteo Dal Peraro, Jan Tavernier (UGent) , et al.

(2021) ISCIENCE. 24(12).
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- C3
The presence of serum autoantibodies and donor-specific anti-HLA antibodies in pediatric liver tranplant recipients is associated with histological and biochemical parameter of graft dysfunction

Emma Saelens, Carolien Bonroy (UGent) , Saskia Vande Velde (UGent) , Stephanie Van Biervliet (UGent) , Myriam Van Winckel (UGent) , Xavier Rogiers (UGent) , Arnaud Vanlander (UGent) and Ruth De Bruyne (UGent)

(2019) PEDIATRIC TRANSPLANTATION. In Pediatric Transplantation 23(Supplement 1).
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De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Gregory Costain, Bert Callewaert (UGent) , Heinz Gabriel, Tiong Y Tan, Susan Walker, John Christodoulou, Tamas Lazar, Björn Menten (UGent) , Julia Orkin, Simon Sadedin, et al.

(2019) GENETICS IN MEDICINE. 21(4). p.1021-1026
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- Conference Paper
- C3
The clinical heterogeneity of the NARS2 c.822G>C mutation clearly illustrated in two siblings : epilepsy and myopathy

Arnaud Vanlander (UGent) , Helene Verhelst (UGent) , Elise Vantroys, Joél Smet (UGent) , Boel De Paepe (UGent) , Sarah Vergult (UGent) , Björn Menten (UGent) and Rudy Van Coster (UGent)

(2018) J. Inherit. Metab. Dis.. In JOURNAL OF INHERITED METABOLIC DISEASE 41(suppl. 1). p.S156-S156
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- Conference Paper
- C3
Cyclic vomiting in a subject with homoplasmic m.14674T>C alteration

Elise Vantroys, Boel De Paepe (UGent) , Joél Smet (UGent) , Femke Nachtergaele, Sara Seneca, Arnaud Vanlander (UGent) and Rudy Van Coster (UGent)

(2018) J. Inherit. Metab. Dis.. In JOURNAL OF INHERITED METABOLIC DISEASE 41(suppl. 1). p.S160-S160
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Tigecycline-induced inhibition of mitochondrial DNA translation may cause lethal mitochondrial dysfunction in humans

S. J. Vandecasteele, S. Seneca, Joél Smet (UGent) , M. Reynders, J. De Ceulaer, Arnaud Vanlander (UGent) and Rudy Van Coster (UGent)

(2018) CLINICAL MICROBIOLOGY AND INFECTION. 24(4). p.431.e1-431.e3
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A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects

Delfien Bogaert (UGent) , Hye Sun Kuehn, Carolien Bonroy (UGent) , Katherine R Calvo, Jo Dehoorne (UGent) , Arnaud Vanlander (UGent) , Marieke De Bruyne (UGent) , Urszula Cytlak, Venetia Bigley, Frans De Baets (UGent) , et al.

(2018) JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 141(1). p.432-435
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Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway

Arnaud Vanlander (UGent) and Rudy Van Coster (UGent)

(2018) JOURNAL OF BIOLOGICAL INORGANIC CHEMISTRY. 23(4). p.495-506

Academic Bibliography

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Clinical heterogeneity in MT-ATP6 pathogenic variants : same genotype—different onset

Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function

The presence of serum autoantibodies and donor-specific anti-HLA antibodies in pediatric liver tranplant recipients is associated with histological and biochemical parameter of graft dysfunction

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

The clinical heterogeneity of the NARS2 c.822G>C mutation clearly illustrated in two siblings : epilepsy and myopathy

Cyclic vomiting in a subject with homoplasmic m.14674T>C alteration

Tigecycline-induced inhibition of mitochondrial DNA translation may cause lethal mitochondrial dysfunction in humans

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects

Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway

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