Publications by authors named "Hubert Smeets"

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Short-term high-dose nicotinamide treatment across glaucoma subtypes reveals increased mtDNA content and minimal metabolomic change in blood.
Antoni Vallbona-Garcia, James R Tribble, Simon T Gustavsson, Birke J Benedikter, Patrick J Lindsey, Hubert Jm Smeets

Exp Eye Res· December 2025

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A bioinformatics pipeline for identifying homoplasmic and heteroplasmic mitochondrial DNA SNVs in single-cell RNA-Seq datasets.
Zhiling Guan, Patrick Lindsey, Rick Kamps, Hubert J M Smeets

Genomics· November 2025

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Intra-arterial transplantation of autologous mesoangioblasts in m.3243A>G mutation carriers is safe: First phase 1/2 human clinical study.
Florence H J van Tienen, Janneke G J Hoeijmakers, Christiaan van der Leij, Erika Timmer, Nikki Wanders, Hubert J M Smeets

Mol Ther· October 2025

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Wnt7a Decreases Brain Endothelial Barrier Function Via β-Catenin Activation.
Narek Manukjan, Steven Chau, Florian Caiment, Marcel van Herwijnen, Hubert J Smeets

Mol Neurobiol· July 2024

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Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.
Kaalindi Misra, Milena Ślęczkowska, Silvia Santoro, Monique M Gerrits, Elisabetta Mascia, Hubert J M Smeets

Int J Mol Sci· June 2024

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Spinning Disk Confocal Microscopy for Optimized and Quantified Live Imaging of 3D Mitochondrial Network.
Somaieh Ahmadian, Patrick J Lindsey, Hubert J M Smeets, Florence H J van Tienen, Marc A M J van Zandvoort

Int J Mol Sci· April 2024

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European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17-19, 2023, Barcelona, Spain.
Hubert Smeets, Bram Verbrugge, Xavier Bulbena, Liliya Hristova, Julia Vogt

Neuromuscul Disord· March 2024

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Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight.
Joke Mertens, Florence Belva, Aafke P A van Montfoort, Marius Regin, Filippo Zambelli, Hubert J M Smeets

Nat Commun· February 2024

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Mitochondrial DNA variants correlate with a primary open-angle glaucoma subgroup.
Antoni Vallbona-Garcia, Patrick J Lindsey, Rick Kamps, Alphons P M Stassen, Nhan Nguyen, Hubert J M Smeets

Front Ophthalmol (Lausanne)· January 2024

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One-pot, degradable, silica nanocarriers with encapsulated oligonucleotides for mitochondrial specific targeting.
Chloe Trayford, Alissa Wilhalm, Pamela Habibovic, Hubert Smeets, Florence van Tienen

Discov Nano· December 2023

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Hypoxic oligodendrocyte precursor cell-derived VEGFA is associated with blood-brain barrier impairment.
Narek Manukjan, Daria Majcher, Peter Leenders, Florian Caiment, Marcel van Herwijnen, Hubert J Smeets

Acta Neuropathol Commun· August 2023

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Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients.
Antoni Vallbona-Garcia, Ilse H J Hamers, Florence H J van Tienen, Juan Ochoteco-Asensio, Tos T J M Berendschot, Hubert J M Smeets

Exp Eye Res· July 2023

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Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.
Rowida Almomani, Maurice Sopacua, Margherita Marchi, Milena Ślęczkowska, Patrick Lindsey, Hubert J M Smeets

Int J Mol Sci· May 2023

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Reproductive options in mitochondrial disease.
Hubert J M Smeets, Suzanne C E H Sallevelt, Mary Herbert

Handb Clin Neurol· February 2023

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Fusion of Wild-Type Mesoangioblasts with Myotubes of mtDNA Mutation Carriers Leads to a Proportional Reduction in mtDNA Mutation Load.
Ruby Zelissen, Somaieh Ahmadian, Joaquin Montilla-Rojo, Erika Timmer, Monique Ummelen, Hubert Smeets

Int J Mol Sci· January 2023

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Correction to: Non-extensitivity and criticality of atomic hydropathicity around a voltage-gated sodium channel's pore: a modeling study.
Markos N Xenakis, Dimos Kapetis, Yang Yang, Jordi Heijman, Stephen G Waxman, Hubert J Smeets

J Biol Phys· December 2022

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Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy.
Milena Ślęczkowska, Rowida Almomani, Margherita Marchi, Erika Salvi, Bianca T A de Greef, Hubert J M Smeets

Int J Mol Sci· November 2022

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Lead-exposure associated miRNAs in humans and Alzheimer's disease as potential biomarkers of the disease and disease processes.
Qingfeng Wen, Marcha Verheijen, Mandy Melissa Jane Wittens, Julia Czuryło, Sebastiaan Engelborghs, Hubert J M Smeets

Sci Rep· September 2022

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Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy.
Milena Ślęczkowska, Rowida Almomani, Margherita Marchi, Bianca T A de Greef, Maurice Sopacua, Hubert J M Smeets

Int J Mol Sci· June 2022

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Neurodegenerative and functional signatures of the cerebellar cortex in m.3243A > G patients.
Roy A M Haast, Irenaeus F M De Coo, Dimo Ivanov, Ali R Khan, Jacobus F A Jansen, Hubert J M Smeets

Brain Commun· February 2022

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Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.
Le Guo, Bob P H Engelen, Irene M G M Hemel, Irenaeus F M de Coo, Maaike Vreeburg, Hubert J M Smeets

Eur J Hum Genet· December 2021

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Lacosamide Inhibition of Na1.7 Channels Depends on its Interaction With the Voltage Sensor Domain and the Channel Pore.
Julie I R Labau, Matthew Alsaloum, Mark Estacion, Brian Tanaka, Fadia B Dib-Hajj, Hubert J M Smeets

Front Pharmacol· December 2021

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Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions.
Le Guo, Periyasamy Govindaraj, Mariëlle Kievit, Irenaeus F M de Coo, Mike Gerards, Hubert J M Smeets

Neuromuscul Disord· September 2021

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Natural 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.
Karlijn Bouman, Jan T Groothuis, Jonne Doorduin, Nens van Alfen, Floris E A Udink Ten Cate, Hubert J M Smeets

BMC Neurol· August 2021

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Myogenic Cell Transplantation in Genetic and Acquired Diseases of Skeletal Muscle.
Olivier Boyer, Gillian Butler-Browne, Hector Chinoy, Giulio Cossu, Francesco Galli, Hubert Smeets

Front Genet· August 2021

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