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Author Details

Hubert J M Smeets
Maastricht University Medical Centre+
1987
238
55
PMIDPaper TitleJournal TitlePublished Year
36769001Fusion of Wild-Type Mesoangioblasts with Myotubes of mtDNA Mutation Carriers Leads to a Proportional Reduction in mtDNA Mutation Load.Int J Mol Sci2023
37178956Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients.Exp Eye Res2023
37175987Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.Int J Mol Sci2023
36813314Reproductive options in mitochondrial disease.Handb Clin Neurol2023
34740866Blood biomarkers for assessment of mitochondrial dysfunction: An expert review.Mitochondrion2022
35806193Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy.Int J Mol Sci2022
35617047RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.J Clin Invest2022
36430572Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy.Int J Mol Sci2022
36370323Correction to: Non-extensitivity and criticality of atomic hydropathicity around a voltage-gated sodium channel's pore: a modeling study.J Biol Phys2022
36153426Lead-exposure associated miRNAs in humans and Alzheimer's disease as potential biomarkers of the disease and disease processes.Sci Rep2022
35187487Neurodegenerative and functional signatures of the cerebellar cortex in m.3243Aâ¿¿>â¿¿G patients.Brain Commun2022
34022688Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene.Clin Neurol Neurosurg2021
33651841Correction: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.PLoS One2021
33735400Non-extensitivity and criticality of atomic hydropathicity around a voltage-gated sodium channel's pore: a modeling study.J Biol Phys2021
33892629Hydropathicity-based prediction of pain-causing NaV1.7 variants.BMC Bioinformatics2021
33497358Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.J Clin Invest2021
34992539Lacosamide Inhibition of Na<sub>V</sub>1.7 Channels Depends on its Interaction With the Voltage Sensor Domain and the Channel Pore.Front Pharmacol2021
34384384Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.BMC Neurol2021
34426662Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.Eur J Hum Genet2021
34419324Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions.Neuromuscul Disord2021
34048486Plasma GDF-15 concentration is not elevated in open-angle glaucoma.PLoS One2021
32231567Fitter Mitochondria Are Associated With Radioresistance in Human Head and Neck SQD9 Cancer Cells.Front Pharmacol2020
32011655Differential effect of lacosamide on Nav1.7 variants from responsive and non-responsive patients with small fibre neuropathy.Brain2020
32596237<i>Tfam</i> Knockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos.Front Cell Dev Biol2020
32877464Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.PLoS One2020
32447794Cumulative hydropathic topology of a voltage-gated sodium channel at atomic resolution.Proteins2020
32301730GAT-1 (rs2697153) and GAT-3 (rs2272400) polymorphisms are associated with febrile seizures and temporal lobe epilepsy.Epileptic Disord2020
32203199Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations.Eur J Hum Genet2020
32201741Between innovation and precaution: how did offspring safety considerations play a role in strategies of introducing new reproductive techniques?Hum Reprod Open2020
30316835Expression of pathogenic SCN9A mutations in the zebrafish: A model to study small-fiber neuropathy.Exp Neurol2019
31864395Healthy, mtDNA-mutation free mesoangioblasts from mtDNA patients qualify for autologous therapy.Stem Cell Res Ther2019
31488384A novel mitochondrial m.4414T&gt;C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.Neuromuscul Disord2019
30911575Leigh syndrome caused by mutations in <i>MTFMT</i> is associated with a better prognosis.Ann Clin Transl Neurol2019
30554136Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.J Neurol Neurosurg Psychiatry2019
30677530A zebrafish model to study small-fiber neuropathy reveals a potential role for GDAP1.Mitochondrion2019
29267140Human Wharton's Jelly-Derived Stem Cells Display a Distinct Immunomodulatory and Proregenerative Transcriptional Signature Compared to Bone Marrow-Derived Stem Cells.Stem Cells Dev2018
30025539Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Orphanet J Rare Dis2018
30020439Of mice and human embryos: is there an ethically preferred order of preclinical research on new assisted reproductive technologies?Hum Reprod2018
29850888Mutation-specific effects in germline transmission of pathogenic mtDNA variants.Hum Reprod2018
29868447Anatomic &amp; metabolic brain markers of the m.3243A&gt;G mutation: A multi-parametric 7T MRI study.Neuroimage Clin2018
30369941Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.Front Genet2018
29440775Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.Eur J Hum Genet2018
26951855Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.Clin Genet2017
28081892Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.J Pediatr2017
28122886PGD for the m.14487 T&gt;C mitochondrial DNA mutation resulted in the birth of a healthy boy.Hum Reprod2017
28121219Amiloride-sensitive cation channel 2 genotype affects the response to a carbon dioxide panic challenge.J Psychopharmacol2017
28179228Dietary nitrate does not reduce oxygen cost of exercise or improve muscle mitochondrial function in patients with mitochondrial myopathy.Am J Physiol Regul Integr Comp Physiol2017
28443623Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.Eur J Hum Genet2017
28492530A comprehensive strategy for exome-based preconception carrier screening.Genet Med2017
29093663Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.Front Mol Neurosci2017
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Collaborators

Irenaeus F M de Coo
Unit Clinical Genomics, Maastricht University
Co-authored papers 67
Han G Brunner
Maastricht University Medical Centre
Co-authored papers 30
Patrick F Chinnery
School of Clinical Medicine, University of Cambridge
Co-authored papers 12
Robert W Taylor
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 8
An M Voets
Maastricht University Medical Centre
Co-authored papers 7
Rita Horvath
School of Clinical Medicine, University of Cambridge
Co-authored papers 5
Erika Salvi
Co-authored papers 5
David C Samuels
Vanderbilt University
Co-authored papers 3
Robert McFarland
Newcastle University
Co-authored papers 3
Frances Flinter
Guys' and St Thomas' NHS Foundation Trust
Co-authored papers 3
Philippe Lambin
Maastricht University
Co-authored papers 3
Gert Matthijs
Center for Human Genetics, KU Leuven and University Hospitals Leuven
Co-authored papers 3
Alessandra Renieri
University of Siena
Co-authored papers 3
Filippo Martinelli Boneschi
Co-authored papers 3
Marike W van Gisbergen
Maastricht University
Co-authored papers 3
Gr??inne S Gorman
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 3
Benjamin D Solomon
Co-authored papers 2
Maximilian Muenke
National Human Genome Research Institute, The National Institutes of Health
Co-authored papers 2
Holger Fr??hlich
Bonn-Aachen International Center for IT (B-IT), University of Bonn
Co-authored papers 2
Ludwig Dubois
Maastricht University
Co-authored papers 2
Patrick Yu-Wai-Man
University of Cambridge
Co-authored papers 2
Daniel E Pineda-Alvarez
Invitae Corporation
Co-authored papers 2
Kim M Smits
Maastricht University Medical Center+
Co-authored papers 2
Ruth J F Loos
Co-authored papers 2
Wolfgang Wagner
Center for Integrated Oncology Aachen Bonn Cologne Dusseldorf (CIO ABCD)
Co-authored papers 2
Cary Oberije
Maastricht University Medical Centre
Co-authored papers 1
Margaret A Pericak-Vance
Co-authored papers 1
Claudia B Catarino
Friedrich-Baur-Institut, Ludwig-Maximilians-Universitat Munchen
Co-authored papers 1
Caroline C W Klaver
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Release 1.2