Ghent University Academic Bibliography

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New insights into the phenotype of FARS2 deficiency

Elise Vantroys (UGent) , Austin Larson, Marisa Friederich, Kaz Knight, Michael A Swanson, Christopher A Powell, Joél Smet (UGent) , Sarah Vergult (UGent) , Boel De Paepe (UGent) , Sara Seneca, et al.

(2017) MOLECULAR GENETICS AND METABOLISM. 122(4). p.172-181
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A mutation in the PSST homologue of complex I (NADH:ubiquinone oxidoreductase) from Tetranychus urticae is associated with resistance to METI acaricides

Sabina Bajda, Wannes Dermauw (UGent) , Rafaela Panteleri, Naoya Sugimoto, Vassilis Douris, Luc Tirry (UGent) , Masahiro Osakabe, John Vontas and Thomas Van Leeuwen (UGent)

(2017) INSECT BIOCHEMISTRY AND MOLECULAR BIOLOGY. 80. p.79-90
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Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)

Arnaud Vanlander (UGent) , Björn Menten (UGent) , Joél Smet (UGent) , Linda De Meirleir, Tom Sante (UGent) , Boel De Paepe (UGent) , Sara Seneca, Sarah F Pearce, Christopher A Powell, Sarah Vergult (UGent) , et al.

(2015) HUMAN MUTATION. 36(2). p.222-231
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Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

Curtis R, II Coughlin, Gunter H Scharer, Marisa W Friederich, Hung-Chun Yu, Elizabeth A Geiger, Geralyn Creadon-Swindell, Abigail E Collins, Arnaud Vanlander (UGent) , Rudy Van Coster (UGent) , Christopher A Powell, et al.

(2015) JOURNAL OF MEDICAL GENETICS. 52(8). p.532-540
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Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for detection of oxidative phosphorylation defects

Boel De Paepe (UGent) , Joél Smet (UGent) , Arnaud Vanlander (UGent) , Sara Seneca, Willy Lissens, Linda De Meirleir, Mado Vandewoestyne, Dieter Deforce (UGent) , Richard J Rodenburg and Rudy Van Coster (UGent)

(2012) PEDIATRIC RESEARCH. 72(3). p.232-240
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Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model

Ann Meulemans (UGent) , Sara Seneca, Thomas Pribyl, Joél Smet (UGent) , Valerie Alderweirldt, Anouk Waeytens (UGent) , Willy Lissens, Rudy Van Coster (UGent) , Linda De Meirleir, Jean-Paul di Rago, et al.

(2010) JOURNAL OF BIOLOGICAL CHEMISTRY. 285(6). p.4099-4109
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Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects

Boel De Paepe (UGent) , Joél Smet (UGent) , Juliaan Leroy (UGent) , S Seneca, EDITH GEORGE (UGent) , Dirk Matthys (UGent) , L Van Maldergem, E Scalais, W Lissens, L De Meirleir, et al.

(2006) PEDIATRIC RESEARCH. 59(1). p.2-6
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Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II

Rudy Van Coster (UGent) , S Seneca, Joél Smet (UGent) , Ria Van Hecke (UGent) , E Gerlo, Bart Devreese (UGent) , Jozef Van Beeumen (UGent) , JG Leroy, L De Meirleir and W Lissens

(2003) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 120A(1). p.13-18
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Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

L De Meirleir, S Seneca, E Damis, B Sepulchre, Anne Hoorens (UGent) , E Gerlo, MTG Silva, EM Hernandez, W Lissens and Rudy Van Coster (UGent)

(2003) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 121A(2). p.126-131

Academic Bibliography

New insights into the phenotype of FARS2 deficiency

A mutation in the PSST homologue of complex I (NADH:ubiquinone oxidoreductase) from Tetranychus urticae is associated with resistance to METI acaricides

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for detection of oxidative phosphorylation defects

Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model

Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects

Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

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