Ghent University Academic Bibliography

Your filters: cql: author="Debray, François-Guillaume" or (type any "bookEditor issueEditor" and editor="Debray, Fra...

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- Journal Article
- A1
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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, et al.

(2021) MOLECULAR GENETICS & GENOMIC MEDICINE. 9(9).
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- Conference Paper
- C3
Complex III deficiency due to a homozygous mutation in the nuclear encoded subunit UQCRQ

Rudy Van Coster (UGent) , Joél Smet (UGent) , Boel De Paepe (UGent) , Elise Vantroys, Femke Nachtergaele, Sarah Vergult (UGent) , Björn Menten (UGent) , Arnaud Vanlander (UGent) and François-Guillaume Debray

(2018) J. Inherit. Metab. Dis.. In JOURNAL OF INHERITED METABOLIC DISEASE 41(suppl. 1). p.S153-S153
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POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism

Lionel Van Maldergem, Arnaud Besse, Boel De Paepe (UGent) , Emma L Blakely, Vivek Appadurai, Margaret M Humble, Juliette Piard, Kate Craig, Langping He, Pierre Hella, et al.

(2017) ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY. 4(1). p.4-14
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy

François-Guillaume Debray, Claudia Stümpfig, Arnaud Vanlander (UGent) , Vinciane Dideberg, Claire Josse, Jean-Hubert Caberg, François Boemer, Vincent Bours, René Stevens, Sara Seneca, et al.

(2015) JOURNAL OF INHERITED METABOLIC DISEASE. 38(6). p.1147-1153
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Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene

François-Guillaume Debray, Sara Seneca, Michel Gonce, Kim Vancampenhaut, Elettra Bianchi, François Boemer, Laurent Weekers, Joél Smet (UGent) and Rudy Van Coster (UGent)

(2014) MITOCHONDRION. 17. p.101-105
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- Journal Article
- A2
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Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

Julie Harvengt, Catherine Wanty, Boel De Paepe (UGent) , Christine Sempoux, Nicole Revencu, Joél Smet (UGent) , Rudy Van Coster (UGent) , Willy Lissens, Sara Seneca, Laurent Weekers, et al.

(2014) MOLECULAR GENETICS AND METABOLISM REPORTS. 1. p.223-231
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Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene

Adeline Jacquinet, Alain Verloes, Bert Callewaert (UGent) , Christine Coremans, Paul Coucke (UGent) , Anne De Paepe (UGent) , Uwe Kornak, Frederic Lebrun, Jacques Lombet, Gérald E Piérard, et al.

(2014) EUROPEAN JOURNAL OF MEDICAL GENETICS. 57(5). p.230-234

Academic Bibliography

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Complex III deficiency due to a homozygous mutation in the nuclear encoded subunit UQCRQ

POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy

Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene

Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene

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