L. de Meirleir

发表

Study of pediatric brain development using magnetic resonance imaging of anisotropic diffusion.

S. Sourbron, S. Boujraf, R. Luypaert, 2002, Magnetic resonance imaging.

Effect of ankle-foot orthoses on trunk sway and lower limb intersegmental coordination in children with bilateral cerebral palsy.

G. Cheron, B. Dan, L. de Meirleir, 2012, Journal of pediatric rehabilitation medicine.

Effect of ankle-foot orthoses on gait in typically developing children: Developmental trend in segmental coordination.

G. Cheron, F. Leurs, B. Dan, 2010, Journal of pediatric rehabilitation medicine.

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype–phenotype correlation in 38 classical citrullinemia patients

S. Seneca, H. Mandel, L. de Meirleir, 2003, Human mutation.

A novel mitochondrial transfer RNA proline mutation

S. Seneca, L. de Meirleir, W. Lissens, 2000, Journal of Inherited Metabolic Disease.

Disorders of the Pyruvate Metabolism and the Krebs Cycle

R. Carrozzo, L. de Meirleir, E. Morava, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

F. Baas, D. Ferriero, J. Graham, 2011, Brain : a journal of neurology.

Glomerular filtration rate in patients with Cushing's disease: a matched case-control study.

L. de Meirleir, B. Velkeniers, P. Haentjens, 2005, European journal of endocrinology.

Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C disease

L. de Meirleir, S. Wouters, E. Campforts, 2014, Child and Adolescent Psychiatry and Mental Health.

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).

S. Seneca, L. de Meirleir, A. Ribes, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome

L. de Meirleir, J. Zeman, A. Broomfield, 2018, Acta paediatrica.

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

M. Baumgartner, D. Rizopoulos, Y. Chien, 2019, Molecular genetics and metabolism.

Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease.

L. de Meirleir, L. Becker, B. Robinson, 1987, The Journal of pediatrics.

Prognostic utility of SEPs in comatose children.

M. Taylor, L. de Meirleir, M. Taylor, 1987, Pediatric neurology.

Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency

S. Seneca, L. de Meirleir, B. Poll-The, 1996, Human mutation.

Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.

G. Brown, L. de Meirleir, D. Kerr, 1992, Human mutation.

Mutations and polymorphisms in the pyruvate dehydrogenase E1α gene

G. Brown, L. de Meirleir, D. Kerr, 1992 .

De novo LMNA mutations cause a new form of congenital muscular dystrophy

E. Bertini, F. Muntoni, L. de Meirleir, 2008, Annals of neurology.

Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation.

L. de Meirleir, W. Lissens, A. Saini, 2013, JIMD reports.

Mitochondrial dysfunction in Brooks–Wisniewski–Brown syndrome

S. Seneca, L. de Meirleir, R. Rodenburg, 2006, American journal of medical genetics. Part A.

Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex.

L. de Meirleir, B. Robinson, L. Meirleir, 1988, The Journal of biological chemistry.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Y. Wada, J. Veltman, C. Stanley, 2014, The New England journal of medicine.

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

L. de Meirleir, L. Bindoff, E. Ostergaard, 2017, Journal of Medical Genetics.

Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria.

L. de Meirleir, E. Gerlo, Y. Vandenplas, 1994, The Journal of pediatrics.

Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases

S. Rossi, L. Defebvre, M. Vidailhet, 2014, Neurology.

Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome

L. de Meirleir, R. Wevers, S. Wortmann, 2015, Neuropediatrics.

Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA

S. Seneca, L. de Meirleir, W. Lissens, 2009, Electrophoresis.

A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure.

L. Lagae, S. Seneca, L. de Meirleir, 2006, Archives of neurology.

Mutations in PEX10 are a cause of autosomal recessive ataxia

H. Waterham, R. Wanders, L. de Meirleir, 2010, Annals of neurology.

Mutations in SACS cause atypical and late-onset forms of ARSACS

W. Robberecht, P. van Damme, L. de Meirleir, 2010, Neurology.

Clinical implementation of gene panel testing for lysosomal storage diseases

S. Seneca, P. Verloo, L. de Meirleir, 2018, Molecular genetics & genomic medicine.

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.

S. Seneca, L. de Meirleir, Jean-Jacques Martin, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Unusual findings in Leigh syndrome caused by T8993C mutation.

S. Seneca, L. de Meirleir, E. Ozer, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

L. de Meirleir, J. Zeman, P. Hensman, 2011, Orphanet journal of rare diseases.

Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses

L. de Meirleir, K. V. van Gassen, E. Scalais, 2019, JIMD reports.

Unexpected diagnosis of Candida albicans meningitis in a premature neonate.

L. de Meirleir, A. Bougatef, L. Sacré, 1989, Pediatric neurology.

A Bumpy Ride on the Diagnostic Bench of Massive Parallel Sequencing, the Case of the Mitochondrial Genome

S. Seneca, L. de Meirleir, W. Lissens, 2014, PloS one.

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

L. de Meirleir, J. Zeman, O. Bodamer, 2007, European Journal of Pediatrics.

Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

L. de Meirleir, J. Zeman, A. Lund, 2018, Acta paediatrica.

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

L. de Meirleir, D. Ardigò, A. Lund, 2018, Journal of Inherited Metabolic Disease.

Dancing eye syndrome and hyperphosphatasemia.

L. de Meirleir, F. Gorus, D. Hasaerts, 1998, Pediatric neurology.

Shwachman–Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype

L. de Meirleir, A. Kolivras, M. Alders, 2016, American journal of medical genetics. Part A.

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

L. de Meirleir, S. Kalko, E. Ruiz-Pesini, 2014, BMC Genomics.

S. Seneca, L. de Meirleir, Ç. Kasapkara, 2013, Journal of pediatric gastroenterology and nutrition.

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

L. de Meirleir, P. Divry, G. Besley, 2002, American journal of medical genetics.

A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.

S. Seneca, L. de Meirleir, T. Coşkun, 2011, The Turkish journal of pediatrics.

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

S. Seneca, L. de Meirleir, I. De Clercq, 2004, Journal of Medical Genetics.

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

S. Seneca, L. de Meirleir, W. Lissens, 2003, American journal of medical genetics. Part A.

Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing

Gene W. Yeo, S. Gabriel, F. Baas, 2016, Nature Genetics.

Mutation of a potassium channel–related gene in progressive myoclonic epilepsy

L. de Meirleir, M. Abramowicz, P. van Bogaert, 2007, Annals of neurology.

Delineating the GRIN1 phenotypic spectrum

D. Misceo, L. de Meirleir, J. Hentschel, 2016, Neurology.

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

Wolfgang Müller-Felber, Arnold Munnich, Laurence Hubert, 2010, Human mutation.

Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation

H. Waterham, L. de Meirleir, P. Witters, 2016, American journal of medical genetics. Part A.

Mutations in the X‐linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

S. Seneca, L. de Meirleir, E. Naito, 2000, Human mutation.

TUBA1A mutations

S. Seneca, P. Verloo, L. de Meirleir, 2011, Neurology.

Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature.

L. de Meirleir, K. V. Van Rompaey, A. Jansen, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Defects of Pyruvate Metabolism and the Krebs Cycle

L. de Meirleir, 2002, Journal of child neurology.

Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis.

L. de Meirleir, J. Brucher, A. Michotte, 1993, Pediatric neurology.

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

Robert W. Taylor, W. Chung, H. Prokisch, 2017, Annals of neurology.

Multimodal Evoked Potential Studies in Leukodystrophies of Children

L. de Meirleir, M. Taylor, W. Logan, 1988, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.

P. Kaplan, F. Andermann, R. Hegele, 2007, Archives of neurology.

Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.

S. Seneca, L. de Meirleir, W. Lissens, 1995, Pediatric neurology.

Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene

S. Seneca, L. de Meirleir, P. Briones, 2009, Clinical genetics.

Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial

L. de Meirleir, D. Ardigò, A. Lund, 2018, Journal of Inherited Metabolic Disease.

ALG11-CDG: Three novel mutations and further characterization of the phenotype

L. de Meirleir, K. Jansen, G. Matthijs, 2014, Molecular genetics and metabolism reports.

Bathing-induced seizures.

L. de Meirleir, A. D'allest, J. Ramet, 1989, Pediatric neurology.

Disorders of pyruvate metabolism.

L. de Meirleir, 2013, Handbook of clinical neurology.

Defining the Pathogenesis of the Human Atp12p W94R Mutation Using a Saccharomyces cerevisiae Yeast Model*

Willy Lissens, Sara Seneca, S. Seneca, 2009, The Journal of Biological Chemistry.

PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure

C. de Beaufort, L. de Meirleir, J. Jaeken, 2016, Acta clinica Belgica.

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

S. Seneca, L. de Meirleir, J. V. Van Beeumen, 2003, American journal of medical genetics. Part A.

Aminoacylase I deficiency: a novel inborn error of metabolism.

S. Seneca, L. de Meirleir, B. Devreese, 2005, Biochemical and biophysical research communications.

Two Siblings with Homozygous Pathogenic Splice‐Site Variant in Mitochondrial Asparaginyl–tRNA Synthetase (NARS2)

M. Minczuk, S. Seneca, B. Menten, 2015, Human mutation.

A multicenter study on Leigh syndrome: disease course and predictors of survival

L. de Meirleir, L. Bindoff, E. Ostergaard, 2014, Orphanet Journal of Rare Diseases.

Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency.

A. Heerschap, L. de Meirleir, J. Smeitink, 1999, Magnetic resonance imaging.

Analysis of the mitochondrial encoded subunits of complex I in 20 patients with a complex I deficiency.

S. Seneca, L. de Meirleir, W. Lissens, 2004, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.

S. Seneca, L. de Meirleir, W. Lissens, 2007, Archives of neurology.

Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency

L. de Meirleir, K. Gibson, E. Gerlo, 1998, Journal of Inherited Metabolic Disease.

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

L. de Meirleir, A. Ribes, W. Lissens, 2010, Clinical genetics.

Pyruvate dehydrogenase complex deficiency and absence of subunit X

S. Seneca, L. de Meirleir, W. Lissens, 1998, Journal of Inherited Metabolic Disease.

Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: the first case of aminoacylase I deficiency.

L. de Meirleir, R. Wevers, W. Lissens, 2006, Analytica chimica acta.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Robert W. Taylor, T. Wieland, A. Munnich, 2018, Orphanet Journal of Rare Diseases.

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

E. Bertini, M. Zeviani, S. Seneca, 1998, Journal of Inherited Metabolic Disease.

The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders.

S. Seneca, L. de Meirleir, W. Lissens, 2007, Acta neurologica Belgica.

Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C

W. van Paesschen, P. Parizel, S. Seneca, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.

S. Seneca, L. de Meirleir, W. Lissens, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.

E. Bertini, F. Aarsen, L. de Meirleir, 2019, The lancet. Diabetes & endocrinology.

Abdominal pain and vomiting as first sign of mitochondrial disease.

S. Seneca, P. Verloo, L. de Meirleir, 2009, Acta gastro-enterologica Belgica.

Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

S. Seneca, L. de Meirleir, W. Lissens, 2014, European Journal of Human Genetics.

Infantile presentation of the mitochondrial A8344G mutation

S. Seneca, L. de Meirleir, W. Lissens, 2007, European Journal of Neurology.

Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects

S. Seneca, L. de Meirleir, W. Lissens, 2009, Journal of Clinical Pathology.

Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1α gene

P. Vreken, S. Seneca, R. Wanders, 1999, European Journal of Pediatrics.

Familial very long chain acyl‐CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis

S. Ferdinandusse, H. Waterham, L. de Meirleir, 2015, American journal of medical genetics. Part A.

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.

S. Seneca, L. de Meirleir, G. Ponsot, 1997, Human genetics.

PRRT2 mutations: exploring the phenotypical boundaries

L. Lagae, W. van Paesschen, L. de Meirleir, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome.

S. Seneca, L. de Meirleir, W. Lissens, 2001, Archives of neurology.

Access to early diagnostics, intervention, and support for children with a neurobiological developmental delay or disorder

L. de Meirleir, M. Leys, E. Cloet, 2017, Developmental medicine and child neurology.

Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.

S. Seneca, L. de Meirleir, A. Jansen, 2018, European journal of medical genetics.

Pyruvate dehydrogenase E1α deficiency in a family: Different clinical presentation in two siblings

L. de Meirleir, W. Lissens, N. Specola, 1998, Journal of Inherited Metabolic Disease.

Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 alpha gene.

S. Seneca, L. de Meirleir, G. Ponsot, 1995, Human molecular genetics.

Pitfalls in the diagnosis of mtDNA mutations.

S. Seneca, L. de Meirleir, W. Lissens, 1998, Journal of medical genetics.

X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.

T. Shaikh, L. de Meirleir, J. V. Van Hove, 2017, Pediatric neurology.

Influence of Botulinum Toxin Therapy on Postural Control and Lower Limb Intersegmental Coordination in Children with Spastic Cerebral Palsy

G. Cheron, B. Dan, L. de Meirleir, 2013, Toxins.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Y. Wada, J. Veltman, C. Stanley, 2014, The New England journal of medicine.

Anti-epileptogenesis research: the clinical relevance.

L. Lagae, S. Dedeurwaerdere, L. de Meirleir, 2003, Acta neurologica Belgica.