S. Seneca

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

Three Siblings with Progressive Encephalopathy and Destructive White Matter Lesions

S. Seneca, K. Stouffs, A. Gheldof, 2018 .

Spinocerebellar ataxias: An example of the challenges associated with genetic databases for dynamic mutations

S. Seneca, J. Sequeiros, S. Wieczorek, 2012, Human mutation.

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.

Near-Infrared Spectroscopy Screening to Allow Detection of Pathogenic Mitochondrial DNA Variants in Individuals with Unexplained Abnormal Fatigue: A Preliminary Study

S. Seneca, B. De Paepe, J. Bourgois, 2018, Applied spectroscopy.

Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells

S. Seneca, T. Voet, L. Gianaroli, 2017, European Journal of Human Genetics.

Random Mutagenesis, Clonal Events, and Embryonic or Somatic Origin Determine the mtDNA Variant Type and Load in Human Pluripotent Stem Cells

S. Seneca, S. Viville, K. Sermon, 2018, Stem cell reports.

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.

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency

S. Seneca, G. Ponsot, W. Lissens, 1997, Human Genetics.

Differences in maternally inherited and age-related de novo mitochondrial DNA variants between ART and spontaneously conceived individuals associate with low birth weight

S. Seneca, H. Tournaye, K. Sermon, 2022, medRxiv.

Mitochondrial dysfunction in Brooks–Wisniewski–Brown syndrome

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

OP10 – 2707: Childhood-onset ataxic gait solved by muscle biopsy

S. Seneca, A. Jansen, K. Stouffs, 2015 .

Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency.

S. Seneca, J. Arenas, Miguel Ángel Martín, 2015, Journal of proteomics.

Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome

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

Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation.

S. Seneca, K. Hejzlarová, V. Kaplanová, 2015, The Biochemical journal.

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

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

Analysis of the DNA binding and transcriptional activation properties of the Ets1 oncoprotein.

S. Seneca, B. Punyammalee, M. Crabeel, 1992, The New biologist.

Ets1, when fused to the GAL4 DNA binding domain, efficiently enhances galactose promotor dependent gene expression in yeast.

S. Seneca, B. Punyammalee, M. Crabeel, 1991, Oncogene.

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.

What can the CF registry tell us about rare CFTR-mutations? A Belgian study

S. Seneca, A. Malfroot, S. Wanyama, 2017, Orphanet Journal of Rare Diseases.

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.

Methylation of the CpG sites in the myotonic dystrophy locus does not correlate with CTG expansion size or with the congenital form of the disease

S. Seneca, K. Sermon, I. Liebaers, 2010, Journal of Medical Genetics.

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

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

EMQN Best Practice Guidelines for molecular genetic testing of SCAs

S. Seneca, J. Sequeiros, J. Martindale, 2010, European Journal of Human Genetics.

Human embryonic stem cells commonly display large mitochondrial DNA deletions

S. Seneca, Han-Woong Lee, Daewon Jeong, 2013, Nature Biotechnology.

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.

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.

Functional polypeptides can be synthesized from human mitochondrial transcripts lacking termination codons.

S. Seneca, Z. Chrzanowska-Lightowlers, R. Lightowlers, 2004, The Biochemical journal.

Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency

S. Seneca, P. Navas, A. Ribes, 2014, Journal of Inherited Metabolic Disease.

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.

Ovarian hyperstimulation syndrome after gonadotropin-releasing hormone agonist triggering and “freeze-all”: in-depth analysis of genetic predisposition

S. Seneca, H. Tournaye, K. Stouffs, 2015, Journal of Assisted Reproduction and Genetics.

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.

Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens.

S. Seneca, W. Lissens, A. V. Van Steirteghem, 1999, Molecular human reproduction.

Are AZFb deletions always incompatible with sperm production?

S. Seneca, H. Tournaye, K. Stouffs, 2017, Andrology.

Genetic causes of male infertility.

S. Seneca, W. Lissens, K. Stouffs, 2014, Annales d'endocrinologie.

Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities.

S. Seneca, C. Férec, H. Tournaye, 1996, Human reproduction.

Sertoli Cell-Only Syndrome: Behind the Genetic Scenes

S. Seneca, H. Tournaye, W. Lissens, 2016, BioMed research international.

Ptosis as an associated finding in maternally inherited diabetes and deafness

S. Seneca, J. D. De Bleecker, B. Leroy, 2010, Ophthalmic genetics.

DNA diagnosis of X-linked adrenoleukodystrophy

S. Seneca, W. Lissens, 1995, Journal of Inherited Metabolic Disease.

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

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.

Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency

S. Seneca, J. Arenas, Miguel Ángel Martín, 2010, Human mutation.

Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays

S. Seneca, L. Wessels, M. Blok, 2020, Clinical Cancer Research.

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.

Experience and outcome of 3 years of a European EQA scheme for genetic testing of the spinocerebellar ataxias

S. Seneca, S. Patton, J. Sequeiros, 2008, European Journal of Human Genetics.

EDIR: exome database of interspersed repeats

S. Seneca, Catharina Olsen, A. Gheldof, 2022, Bioinformatics.

Molecular analysis in 23 Hunter disease families

S. Seneca, W. Lissens, I. Liebaers, 1997, Journal of Inherited Metabolic Disease.

Primary Ovarian Insufficiency in RMND1 Mitochondrial Disease.

S. Seneca, A. Aeby, C. Brachet, 2022, Mitochondrion.

Additional file 14

S. Seneca, P. Divina, M. Tesařová, 2012 .

The Molecular Basis of Antithrombin Deficiency in Belgian and Dutch Families

S. Seneca, W. Lissens, I. Liebaers, 1998, Thrombosis and Haemostasis.

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation

S. Seneca, P. Marynen, E. Baere, 2014, Human Genetics.

Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis

S. Seneca, Kah Ying Ng, Uwe Richter, 2021, bioRxiv.

Mitochondrial stress response triggered by defects in protein synthesis quality control

Robert W. Taylor, S. Seneca, T. Nyman, 2019, Life Science Alliance.

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.

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease

S. Seneca, P. Bauer, D. Barton, 2012, European Journal of Human Genetics.

Severe primary pulmonary hypoplasia ( " acinar dysplasia " ) in sibs : a genetically determined mesodermal defect ?

S. Seneca, W. Lissens, I. Liebaers, 2022 .

TUBA1A mutations

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

Patient homozygous for a recessive POLG mutation presents with features of MERRF

S. Seneca, C. van Broeckhoven, J. Martín, 2003, Neurology.

TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism

S. Seneca, P. Verloo, F. Sterky, 2019, Journal of inherited metabolic disease.

Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation

S. Seneca, E. Buratti, W. Lissens, 2017, Journal of Molecular Medicine.

Pearson marrow pancreas syndrome: a molecular study and clinical management

S. Seneca, W. Lissens, I. Liebaers, 1997, Clinical genetics.

A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy

S. Seneca, R. Vervoort, W. Lissens, 1996, Journal of Inherited Metabolic Disease.

Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria.

S. Seneca, R. Lightowlers, L. Bindoff, 2003, Human molecular genetics.

A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region

S. Seneca, W. Lissens, I. Liebaers, 2007, Human mutation.

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..

Early onset Huntington disease: a neuronal degeneration syndrome

S. Seneca, W. Lissens, I. Liebaers, 2004, European Journal of Pediatrics.

A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis

S. Seneca, M. Abramowicz, W. Lissens, 1996, Journal of Inherited Metabolic Disease.

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.

Complex III staining in blue native polyacrylamide gels

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

Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.

S. Seneca, T. Gabaldón, J. Arenas, 2009, Mitochondrion.

New insights into the phenotype of FARS2 deficiency

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

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

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

Preimplantation genetic diagnosis for fragile Xa syndrome: difficult but not impossible.

S. Seneca, P. Devroey, K. Sermon, 2002, Human reproduction.

Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene

S. Seneca, J. de Zaeytijd, C. van Cauwenbergh, 2021, Ophthalmic genetics.

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.

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.

Sikandar G. Khan, R. Stephens, S. Seneca, 2016, American journal of human genetics.

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.

Further definition of the sequence and position requirements of the arginine control element that mediates repression and induction by arginine in Saccharomyces cerevisiae

M. De Rijcke, S. Seneca, M. Crabeel, 1995, Yeast.

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 .

Rare genetic variants potentially involved in ovarian hyperstimulation syndrome

S. Seneca, H. Tournaye, K. Stouffs, 2018, Journal of Assisted Reproduction and Genetics.

Severe biventricular hypertrophy in MELAS mitochondrial disease.

S. Seneca, I. Buysschaert, J. Breckpot, 2017, European Heart Journal-Cardiovascular Imaging.

Identification of intellectual disability genes in female patients with skewed X-inactivation

S. Seneca, P. Marynen, K. Devriendt, 2015 .

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.

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.

S. Seneca, M. Vincent, C. Barrea, 2016, Molecular genetics and metabolism.

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.

Pyruvate dehydrogenase complex deficiency and absence of subunit X

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

A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy

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

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.

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.

Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers

S. Seneca, V. Dideberg, K. Claes, 2021, JMIR medical informatics.

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.

Reliable and sensitive detection of fragile X (expanded) alleles in clinical prenatal DNA samples with a fast turnaround time.

S. Seneca, S. Van Dooren, P. Haentjens, 2012, The Journal of molecular diagnostics : JMD.

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.

Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene

S. Seneca, B. Velkeniers, J. de Filette, 2016, Neurology: Genetics.

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.

Distinctive phenotype in a girl with Rett syndrome and a novel 25 bp deletion mutation in exon 4 (c.881_905del25, nm_004992.3) of the MECP2 gene

S. Seneca, M. Malenica, M. Katavić, 2014 .

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency

S. Seneca, P. Divina, M. Tesařová, 2008, BMC Genomics.