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Linda De Meirleir

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Marc Degelaen; Eric Kerckhofs; Ronald Buyl; Guy Cheron; Ludo de Borre; Linda De Meirleir; Bernard Dan
Influence of botulinum toxin therapy on postural control and lower limb intersegmental coordination in children with spastic cerebral palsy.
Boel De Paepe; Dieter Deforce; Willy Lissens; Richard J Rodenburg; Sara Seneca; Joél Smet; Mado Vandewoestyne; Arnaud Vanlander; Linda De Meirleir; Rudy Van Coster
Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.
Emmanuel Scalais; Patrick Schlesser; Sara Seneca; Rene Stevens; Rudy Van Coster; Gert Van Goethem; Baudouin Francois; Ann Löfgren; Jean-Jacques Martin; C Nuttin; Frank Roels; Linda De Meirleir
Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

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2013: Marc Degelaen; Eric Kerckhofs; Ronald Buyl; Guy Cheron; Ludo de Borre; Linda De Meirleir; Bernard Dan
Influence of botulinum toxin therapy on postural control and lower limb intersegmental coordination in children with spastic cerebral palsy.
Toxins 2013;5(1):93-105.
2012: Boel De Paepe; Dieter Deforce; Willy Lissens; Richard J Rodenburg; Sara Seneca; Joél Smet; Mado Vandewoestyne; Arnaud Vanlander; Linda De Meirleir; Rudy Van Coster
Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.
Pediatric research 2012;72(3):232-40.
2012: Emmanuel Scalais; Patrick Schlesser; Sara Seneca; Rene Stevens; Rudy Van Coster; Gert Van Goethem; Baudouin Francois; Ann Löfgren; Jean-Jacques Martin; C Nuttin; Frank Roels; Linda De Meirleir
Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2012;16(5):542-8.
2012: Marc Degelean; Eric Kerckhofs; Karine Pelc; Patrick Salvia; Guy Cheron; Ludo De Borre; Linda De Meirleir; Bernard Dan
Effect of ankle-foot orthoses on trunk sway and lower limb intersegmental coordination in children with bilateral cerebral palsy.
Journal of pediatric rehabilitation medicine 2012;5(3):171-9.
2011: Joél Smet; Linda De Meirleir; Boel De Paepe; Vineta Fellman; Heike Kotarsky; Willy Lissens; Sara Seneca; Rudy Van Coster
Complex III staining in blue native polyacrylamide gels.
Journal of inherited metabolic disease 2011;34(3):741-7.
2010: Lieven Lagae; Helene Verhelst; Berten Ceulemans; Linda De Meirleir; Marie-Cécile Nassogne; Valerie De Borchgrave; Marc D'Hooghe; Martine Foulon; Patrick Van Bogaert
Treatment and long term outcome in West syndrome: the clinical reality. A multicentre follow up study.
Seizure : the journal of the British Epilepsy Association 2010;19(3):159-64.
2010: Ann Meulemans; Sara Seneca; Thomas Pribyl; Joel Smet; Valerie Alderweirldt; Anouk Waeytens; Willy Lissens; Rudy Van Coster; Linda De Meirleir; Jean-Paul di Rago; Domenico L Gatti; Sharon H Ackerman
Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model.
The Journal of biological chemistry 2010;285(6):4099-109.
2010: Marc Degelaen; Eric Kerckhofs; Françoise Leurs; Guy Cheron; Ludo De Borre; Linda De Meirleir; Bernard Dan
Effect of ankle-foot orthoses on gait in typically developing children: Developmental trend in segmental coordination.
Journal of pediatric rehabilitation medicine 2010;3(3):163-70.
2009: Joél Smet; Sara Seneca; Boel De Paepe; Ann Meulemans; Helene Verhelst; Jules Leroy; Linda De Meirleir; Willy Lissens; Rudy Van Coster
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.
Electrophoresis 2009;30(20):3565-72.
2009: Alexandra Zecic; Joél E Smet; Claudine M De Praeter; Piet Vanhaesebrouck; Carlo Viscomi; Caroline Van den Broecke; Boel De Paepe; Peter Lohse; Jean-Jacques Martin; Joshua G Jackson; Colin R Campbell; Linda De Meirleir; Massimo Zeviani; Sara Seneca; Willy Lissens; Rudy Van Coster
Lactic acidosis in a newborn with adrenal calcifications.
Pediatric research 2009;66(3):317-22.
2009: Boel De Paepe; Joél Smet; M Lammens; Sara Seneca; Jean-Jacques Martin; Jan L De Bleecker; Linda De Meirleir; Willy Lissens; Rudy Van Coster
Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects.
Journal of clinical pathology 2009;62(2):172-6.
2008: Eva Morava; Dirk J Lefeber; Z Urban; Linda De Meirleir; Peter Meinecke; Gabriele Gillessen-Kaesbach; Jolanta Sykut-Cegielska; Maciej Adamowicz; I Salafsky; J Ranells; E Lemyre; Jeroen van Reeuwijk; Han G Brunner; Ron A Wevers
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.
European journal of human genetics : EJHG 2008;16(1):28-35.
2007: Emmanuel Scalais; C Nuttin; Sara Seneca; Joél Smet; Boel De Paepe; J-J Martin; R Stevens; F Pierart; O Battisti; Willy Lissens; Linda De Meirleir; R Van Coster
Infantile presentation of the mitochondrial A8344G mutation.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2007;14(11):e3-5.
2007: Ann Meulemans; Erik Gerlo; Sara Seneca; Willy Lissens; Joél Smet; Rudy Van Coster; Linda De Meirleir
The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders.
Acta neurologica Belgica 2007;107(3):78-83.
2007: Ann Meulemans; Boel De Paepe; Jan L De Bleecker; Joél Smet; Willy Lissens; Rudy Van Coster; Linda De Meirleir; Sara Seneca
Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.
Archives of neurology 2007;64(9):1339-43.
2007: Eva Morava; Renate Zeevaert; Eckhard Korsch; Karin M L C Huijben; Suzan Wopereis; Gert Matthijs; Kathelijn Keymolen; Dirk J Lefeber; Linda De Meirleir; Ron A Wevers
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
European journal of human genetics : EJHG 2007;15(6):638-45.
2007: Ann Meulemans; Sara Seneca; Joél Smet; Boel De Paepe; Willy Lissens; Rudy Van Coster; Anne Debeer; Linda De Meirleir; Jaak Jaeken
A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2007;11(1):17-20.
2006: Carine de Beaufort; Peter Beck; Roland Seligmann; Linda De Meirleir; Jean De Schepper
Acute pancreatitis after growth hormone treatment: disease or treatment linked?
European journal of pediatrics 2006;165(9):652-3.
2006: Ann Meulemans; Sara Seneca; Lieven Lagae; Willy Lissens; Boel De Paepe; Joél Smet; Rudy Van Coster; Linda De Meirleir
A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure.
Archives of neurology 2006;63(8):1194-8.
2006: Erik Gerlo; Rudy Van Coster; Willy Lissens; Gerda Winckelmans; Linda De Meirleir; Ron A Wevers
Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: the first case of aminoacylase I deficiency.
Analytica chimica acta 2006;571(2):191-9.
2006: Eva Morava; Richard J T Rodenburg; Frans A Hol; Linda De Meirleir; Sara Seneca; Rebekka Busch; Lambert van Den Heuvel; jan smeitink
Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome.
American journal of medical genetics. Part A 2006;140(7):752-6.
2006: Nathalie Verpoorten; Kristl G Claeys; Liesbet Deprez; An Jacobs; Veerle Van Gerwen; Lieven Lagae; W F M Arts; Linda De Meirleir; Kathelijn Keymolen; Chantal Ceuterick-de Groote; Peter De Jonghe; Vincent Timmerman; Eva Nelis
Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.
Neuromuscular disorders : NMD 2006;16(1):19-25.
2006: Boel De Paepe; Joél Smet; Jules G Leroy; Sara Seneca; Edith George; Dirk Matthys; Lionel Van Maldergem; Emmanuel Scalais; Willy Lissens; Linda De Meirleir; Ann Meulemans; Rudy Van Coster
Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects.
Pediatric research 2006;59(1):2-6.
2005: Rudy Van Coster; Erik Gerlo; Thierry Giardina; Udo F H Engelke; Joél Smet; Claudine De Praeter; V A Meersschaut; Linda De Meirleir; Sara Seneca; Bart Devreese; Jules G Leroy; S Herga; Josette Perrier; Ron A Wevers; Willy Lissens
Aminoacylase I deficiency: a novel inborn error of metabolism.
Biochemical and biophysical research communications 2005;338(3):1322-6.
2005: Patrick Haentjens; Linda De Meirleir; Roger Abs; Johan Verhelst; Kris Poppe; Brigitte Velkeniers
Glomerular filtration rate in patients with Cushing's disease: a matched case-control study.
European journal of endocrinology / European Federation of Endocrine Societies 2005;153(6):819-29.
2004: Sara Seneca; Domique Fagnart; Kathelijn Keymolen; Willy Lissens; Daniele Hasaerts; Sara Debulpaep; Brigitte Desprechins; Inge Liebaers; Linda De Meirleir
Early onset Huntington disease: a neuronal degeneration syndrome.
European journal of pediatrics 2004;163(12):717-21.
2004: Linda De Meirleir; Sara Seneca; Willy Lissens; I De Clercq; F Eyskens; Erik Gerlo; Joél Smet; Rudy Van Coster
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12.
Journal of medical genetics 2004;41(2):120-4.
2004: Ann Meulemans; Willy Lissens; Rudy Van Coster; Linda De Meirleir; Joél Smet; Marie-Cécile Nassogne; Inge Liebaers; Sara Seneca
Analysis of the mitochondrial encoded subunits of complex I in 20 patients with a complex I deficiency.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2004;8(6):299-306.
2003: Linda De Meirleir; Sara Seneca; Eliane Damis; Brigitte Sepulchre; Anne Hoorens; Erik Gerlo; M Teres García Silva; Elena Martín Hernandez; Willy Lissens; Rudy Van Coster
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.
American journal of medical genetics. Part A 2003;121A(2):126-31.
2003: Rudy Van Coster; Sara Seneca; Joél Smet; R Van Hecke; Erik Gerlo; Bart Devreese; Jozef Van Beeumen; Jules G Leroy; Linda De Meirleir; Willy Lissens
Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II.
American journal of medical genetics. Part A 2003;120A(1):13-8.
2003: L Lagae; Gunnar Buyse; Berten Ceulemans; Pieter Claeys; Stefanie Dedeurwaerdere; Linda De Meirleir; R Hauman; A Janssen; E Schmedding; Helene Verhelst; Kristl Vonck
Anti-epileptogenesis research: the clinical relevance.
Acta neurologica Belgica 2003;103(2):78-82.
2002: Anne-Marie Lamhonwah; Simon E Olpin; Rodney J Pollitt; Christine Vianey-Saban; Priscille Divry; Nathalie Guffon; G T N Besley; Russell Onizuka; Linda De Meirleir; Ljerka Cvitanovic-Sojat; Ivo Baric; Carlo Dionisi Vici; Ksenija Fumic; Miljenka Maradin; Ingrid Tein
Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.
American journal of medical genetics 2002;111(3):271-84.
2001: Rudy Van Coster; Joél Smet; E George; Linda De Meirleir; Sara Seneca; Johan L K Van Hove; G Sebire; Helene Verhelst; Jan L De Bleecker; Bruno van Vlem; P Verloo; J Leroy
Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects.
Pediatric research 2001;50(5):658-65.
2001: Sara Seneca; Helene Verhelst; Linda De Meirleir; F Meire; Chantal Ceuterick-de Groote; Willy Lissens; Rudy Van Coster
A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome.
Archives of neurology 2001;58(7):1113-8.
2000: Sara Seneca; C Ceuterik-De Groote; Rudy Van Coster; Linda De Meirleir
A novel mitochondrial transfer RNA proline mutation.
Journal of inherited metabolic disease 2000;23(8):853-4.
2000: A K Cardozo; Linda De Meirleir; Inge Liebaers; Willy Lissens
Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency.
Pediatric research 2000;48(6):748-53.
2000: Rudy Van Coster; Linda De Meirleir
Mitochondrial cytopathies and neuromuscular disorders.
Acta neurologica Belgica 2000;100(3):156-61.
2000: Willy Lissens; Linda De Meirleir; Sara Seneca; Inge Liebaers; G K Brown; R M Brown; M Ito; E Naito; Y Kuroda; Douglas S Kerr; ID Wexler; Mulchand S Patel; B H Robinson; A Seyda
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
Human mutation 2000;15(3):209-19.
1999: Willy Lissens; P Vreken; Peter G Barth; F A Wijburg; Wim Ruitenbeek; Ronald J A Wanders; Sara Seneca; Inge Liebaers; Linda De Meirleir
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
European journal of pediatrics 1999;158(10):853-7.
1998: Sara Seneca; Willy Lissens; I Liebaers; P van den Bergh; Marie-Cécile Nassogne; A Benatar; Linda De Meirleir
Pitfalls in the diagnosis of mtDNA mutations.
Journal of medical genetics 1998;35(11):963-4.
1998: K Michael Gibson; R S Wappner; S Jooste; Elardus Erasmus; Lodewyk J Mienie; Erik Gerlo; Brigitte Desprechins; Linda De Meirleir
Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency.
Journal of inherited metabolic disease 1998;21(6):631-8.
1998: Linda De Meirleir; N Specola; Sara Seneca; Willy Lissens
Pyruvate dehydrogenase E1 alpha deficiency in a family: different clinical presentation in two siblings.
Journal of inherited metabolic disease 1998;21(3):224-6.
1998: Ekkehard Wilichowski; Georg Christoph Korenke; Wim Ruitenbeek; Linda De Meirleir; A Hagendorff; Antoon J M Janssen; Willy Lissens; Folker Hanefeld
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation.
Journal of the neurological sciences 1998;157(2):206-13.
1998: Linda De Meirleir; Willy Lissens; Chantal Benelli; Cécile Marsac; J De Klerk; J Scholte; O van Diggelen; W Kleijer; Sara Seneca; Inge Liebaers
Pyruvate dehydrogenase complex deficiency and absence of subunit X.
Journal of inherited metabolic disease 1998;21(1):9-16.
1998: Carlo Dionisi Vici; Sara Seneca; M Zeviani; Giuseppe Fariello; M Rimoldi; Enrico Bertini; Linda De Meirleir
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
Journal of inherited metabolic disease 1998;21(1):2-8.
1997: Cécile Marsac; Chantal Benelli; Isabelle Desguerre; M Diry; Françoise Fouque; Linda De Meirleir; Gérard Ponsot; Sara Seneca; F Poggi; Jean-Marie Saudubray; Marie-Thérèse Zabot; D Fontan; Willy Lissens
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.
Human genetics 1997;99(6):785-92.
1997: Sara Seneca; Linda De Meirleir; Jean De Schepper; N Balduck; K Jochmans; Inge Liebaers; Willy Lissens
Pearson marrow pancreas syndrome: a molecular study and clinical management.
Clinical genetics 1997;51(5):338-42.
1996: Paz Briones; M J López; Linda De Meirleir; Antonia Ribes; Marga Rodés; C Martinez-Costa; M Peris; Willy Lissens
Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy.
Journal of inherited metabolic disease 1996;19(6):795-6.
1996: Sara Seneca; M Abramowicz; Willy Lissens; M F Muller; Esther Vamos; Linda De Meirleir
A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis.
Journal of inherited metabolic disease 1996;19(2):115-8.
1996: Willy Lissens; Linda De Meirleir; Sara Seneca; Chantal Benelli; Cécile Marsac; B T Poll-The; Paz Briones; W Ruitenbeek; O van Diggelen; D Chaigne; V Ramaekers; Inge Liebaers
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
Human mutation 1996;7(1):46-51.
1995: Linda De Meirleir; Sara Seneca; Willy Lissens; E Schoentjes; Brigitte Desprechins
Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.
Pediatric neurology 1995;13(3):242-6.
1995: Willy Lissens; Isabelle Desguerre; Chantal Benelli; Cécile Marsac; Françoise Fouque; C Haenggeli; Gérard Ponsot; Sara Seneca; Inge Liebaers; Linda De Meirleir
Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 alpha gene.
Human molecular genetics 1995;4(2):307-8.
1995: Sara Seneca; Linda De Meirleir; Inge Liebaers; Willy Lissens
Importance of sequence analysis in NARP syndrome.
Journal of inherited metabolic disease 1995;18(1):97-8.
1994: Linda De Meirleir; Willy Lissens; Chantal Benelli; Gérard Ponsot; Isabelle Desguerre; Cécile Marsac; D Rodriguez; Jean-Marie Saudubray; F Poggi; Inge Liebaers
Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy.
Pediatric research 1994;36(6):707-12.
1994: Linda E De Raeve; Linda De Meirleir; Jose Ramet; Y Vandenplas; Erik Gerlo
Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria.
The Journal of pediatrics 1994;124(3):416-20.
1994: U Blecker; Linda De Meirleir; Linda E De Raeve; Jose Ramet; Y Vandenplas
Acrodermatitis-like syndrome in organic aciduria.
Pediatrics 1994;93(3):537.
1993: Linda De Meirleir; Willy Lissens; R Denis; J L Wayenberg; A Michotte; J M Brucher; E Vamos; Erik Gerlo; I Liebaers
Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis.
Pediatric neurology 1993;9(3):216-20.
1993: G Bonne; Chantal Benelli; Linda De Meirleir; Willy Lissens; M Chaussain; M Diry; Jean-Pierre Clot; Gérard Ponsot; V Geoffroy; J P Leroux
E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy.
Pediatric research 1993;33(3):284-8.
1993: A Michotte; Linda De Meirleir; Willy Lissens; R Denis; J L Wayenberg; I Liebaers; J M Brucher
Neuropathological findings of a patient with pyruvate dehydrogenase E1 alpha deficiency presenting as a cerebral lactic acidosis.
Acta neuropathologica 1993;85(6):674-8.
1992: Linda De Meirleir; Willy Lissens; Esther Vamos; Inge Liebaers
Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit.
Human genetics 1992;88(6):649-52.
1992: N Telerman-Toppet; D Biarent; J M Bouton; Linda De Meirleir; C Elmer; S Noel; Esther Vamos; S DiMauro
Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts.
Journal of inherited metabolic disease 1992;15(3):323-6.
1990: Said Hachimi-Idrissi; M Willemsen; Brigitte Desprechins; A Naessens; A Goossens; Linda De Meirleir; Jose Ramet
Pseudallescheria boydii and brain abscesses.
The Pediatric infectious disease journal 1990;9(10):737-41.
1990: Ingrid Tein; Darryl C De Vivo; Fredrick Bierman; P Pulver; Linda De Meirleir; L Cvitanovic-Sojat; R A Pagon; Enrico Bertini; Carlo Dionisi Vici; S Servidei
Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy.
Pediatric research 1990;28(3):247-55.
1989: P Lenoir; Linda De Meirleir; Adel Bougatef; J Marchand; L Sacré
Unexpected diagnosis of Candida albicans meningitis in a premature neonate.
Pediatric neurology 1989;5(6):370-2.
1989: P Lenoir; Jose Ramet; Linda De Meirleir; Anne-Marie d'Allest; Brigitte Desprechins; H Loeb
Bathing-induced seizures.
Pediatric neurology 1989;5(2):124-5.