J. Smet

发表

No evidence for involvement of SDHD in neuroblastoma pathogenesis

F. Speleman, J. Vandesompele, A. De Paepe, 2004, BMC Cancer.

Linezolid-induced inhibition of mitochondrial protein synthesis.

L. Van Haute, S. Seneca, Jean-Jacques Martin, 2006, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

High‐dose statins and skeletal muscle metabolism in humans: A randomized, controlled trial

T. Lehtimäki, R. Laaksonen, J. Laakso, 2005, Clinical pharmacology and therapeutics.

Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia

I. Smuts, F. H. Westhuizen, R. Louw, 2010, Journal of Inherited Metabolic Disease.

Butylated hydroxyanisole is more than a reactive oxygen species scavenger

P. Vandenabeele, X. Saelens, N. Festjens, 2006, Cell Death and Differentiation.

Forearm muscle oxygenation responses during and following arterial occlusion in patients with mitochondrial myopathy

T. Barstow, J. Bourgois, J. Boone, 2014, Respiratory Physiology & Neurobiology.

Neonatal lactic acidosis explained by LARS2 defect

H. Prokisch, A. Vanlander, B. De Paepe, 2022, Pediatric Research.

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.

Mitochondria in peroxisome-deficient hepatocytes exhibit impaired respiration, depleted DNA, and PGC-1α independent proliferation.

P. Carmeliet, I. Vanhorebeek, A. Vanlander, 2015, Biochimica et biophysica acta.

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Robert W. Taylor, M. Minczuk, E. Bertini, 2014, American journal of human genetics.

Possible Pathogenic Mechanism of Propofol Infusion Syndrome Involves Coenzyme Q

G. Dacremont, P. Jorens, N. Van Regenmortel, 2015, Anesthesiology.

Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

S. Seneca, G. G. Van den Eynden, P. Jorens, 2012, Acta anaesthesiologica Scandinavica.

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

S. Seneca, F. Debray, F. Boemer, 2014, Mitochondrion.

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

S. Seneca, R. Rodenburg, M. Vandewoestyne, 2012, Pediatric Research.

Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA

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

Lactic Acidosis in a Newborn With Adrenal Calcifications

M. Zeviani, S. Seneca, W. Lissens, 2009, Pediatric Research.

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

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

Diagnostic Value of Immunostaining in Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects

S. Seneca, D. Matthys, W. Lissens, 2006, Pediatric Research.

Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT

S. Seneca, B. Menten, M. Acou, 2018, Neurology: Genetics.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency

T. Wieland, A. Munnich, H. Smeets, 2018 .

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

S. Seneca, A. Vanlander, J. De Ceulaer, 2017, Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases.

Nondenaturing Polyacrylamide Gel Electrophoresis as a Method for Studying Protein Interactions: Applications in the Analysis of Mitochondrial Oxidative Phosphorylation Complexes

B. Devreese, J. Beeumen, J. Smet, 2006 .

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

S. Seneca, V. Bours, V. Dideberg, 2015, Journal of Inherited Metabolic Disease.

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.

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.

P. Govaert, F. Eyskens, B. Loeys, 2013, Human molecular genetics.

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

E. Holme, J. Zeman, J. Houštěk, 2006, Neuromuscular Disorders.

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

I. Lemmens, B. Cravatt, D. Pagliarini, 2021, iScience.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, Genome Medicine.

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.

Mass spectrometric identification of mitochondrial oxidative phosphorylation subunits separated by two‐dimensional blue‐native polyacrylamide gel electrophoresis

J. V. Van Beeumen, B. Devreese, R. Van Coster, 2002, Electrophoresis.

Proteomic analysis in giant axonal neuropathy: New insights into disease mechanisms

B. Devreese, W. Lissens, B. De Paepe, 2012, Muscle & nerve.

Ethylmalonic Encephalopathy: Clinical and Biochemical Observations

D. Zafeiriou, N. Gregersen, A. Sewell, 2007, Neuropediatrics.

The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival

J. Vandesompele, J. Marine, S. Eyckerman, 2021, Oncogene.

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

R. Schiffmann, I. Krägeloh-Mann, C. Florentz, 2007, Nature Genetics.

Automated Nanoflow Liquid Chromatography/Tandem Mass Spectrometric Identification of Liver Mitochondrial Proteins

B. Devreese, J. Beeumen, J. Smet, 2003 .

Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Tool in Diagnosis of Oxidative Phosphorylation Defects

Guillaume Sebire, Sara Seneca, S. Seneca, 2001, Pediatric Research.

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Robert W. Taylor, T. Meitinger, S. Seneca, 2015, Front. Genet..

Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation.

V. Fellman, M. Mörgelin, H. Kotarsky, 2010, Mitochondrion.

Complex III staining in blue native polyacrylamide gels

S. Seneca, V. Fellman, W. Lissens, 2011, Journal of Inherited Metabolic Disease.

New insights into the phenotype of FARS2 deficiency

M. Minczuk, S. Seneca, B. Menten, 2017, Molecular genetics and metabolism.

Nanoscopic X-ray imaging and quantification of the iron cellular architecture within single fibroblasts of Friedreich's ataxia patients.

P. Cloetens, L. Vincze, T. Vanden Berghe, 2020, Journal of synchrotron radiation.

Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function

P. Verstreken, L. Scorrano, W. Wurst, 2009, EMBO molecular medicine.

Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype—Different Onset

S. Seneca, A. Vanlander, B. De Paepe, 2022, Cells.

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.

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.

Clinical , biochemical , and genetic spectrum of seven patients with NFU 1 deficiency

Robert W. Taylor, T. Meitinger, S. Seneca, 2017 .

A Systems Biology Strategy Reveals Biological Pathways and Plasma Biomarker Candidates for Potentially Toxic Statin-Induced Changes in Muscle

Marko Sysi-Aho, Matej Orešič, Terho Lehtimäki, 2006, PloS one.

TMEM70 deficiency: long-term outcome of 48 patients

E. Bertini, H. Mandel, S. Rahman, 2015, Journal of Inherited Metabolic Disease.

A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.

J. V. Van Hove, G. Scharer, Carter D Wray, 2013, Mitochondrion.

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.

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Katrien Stouffs, Melanie Bahlo, Holger Prokisch, 2016, American journal of human genetics.

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.

A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome

M. Abramowicz, I. Pirson, P. van Bogaert, 2012, Clinical genetics.

Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses.

S. Seneca, A. Vanlander, T. Deconinck, 2016, Mitochondrion.

Isolated defects of mitochondrial ATP synthase: overview of 15 cases.

J. Zeman, J. Houštěk, W. Sperl, 2005 .

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

B. Menten, H. Roeyers, A. Vanlander, 2018, Orphanet Journal of Rare Diseases.

A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy

S. Seneca, R. Sciot, N. Goemans, 2005, American journal of medical genetics. Part A.

Nondenaturing polyacrylamide gel electrophoresis as a method for studying protein interactions: applications in the analysis of mitochondrial OXPHOS complexes

B. Devreese, J. Beeumen, J. Smet, 2005 .

Effect of Resveratrol on Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects

S. Seneca, W. Lissens, K. Vandemeulebroecke, 2014, Phytotherapy research : PTR.

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.

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

S. Seneca, P. Verloo, F. Eyskens, 2009, BMC clinical pathology.

Unraveling the Mechanisms Behind the Enhanced MTT Conversion by Irradiated Breast Cancer Cells

C. De Wagter, S. Blockhuys, M. Bracke, 2013, Radiation research.

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.

A capital role for the brain's insula in the diverse fibromyalgia-associated symptoms.

C. Baeken, M. Meeus, J. Van Oosterwijck, 2020, Medical hypotheses.

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.

Abdominal pain and vomiting as first sign of mitochondrial disease.

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

Forearm Deoxyhemoglobin and Deoxymyoglobin (Deoxy[Hb + Mb]) Measured by Near-Infrared Spectroscopy (NIRS) Using a Handgrip Test in Mitochondrial Myopathy

A. Vanlander, J. D. De Bleecker, J. Bourgois, 2015, Applied spectroscopy.

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.

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

S. Seneca, C. Sempoux, W. Lissens, 2014, Molecular genetics and metabolism reports.

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.