Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome

por Bakker, Jaap A., Schlesser, Patrick, Smeets, Hubert J. M., Francois, Baudouin, Bierau, Jörgen
Publicado 2010

Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system

por van der Lee, Robin, Szklarczyk, Radek, Smeitink, Jan, Smeets, Hubert J M, Huynen, Martijn A., Vogel, Rutger
Publicado 2015

Tfam Knockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos

por Otten, Auke B. C., Kamps, Rick, Lindsey, Patrick, Gerards, Mike, Pendeville-Samain, Hélène, Muller, Marc, van Tienen, Florence H. J., Smeets, Hubert J. M.
Publicado 2020

Neurodegenerative and functional signatures of the cerebellar cortex in m.3243A > G patients

por Haast, Roy A. M., De Coo, Irenaeus F. M., Ivanov, Dimo, Khan, Ali R., Jansen, Jacobus F. A., Smeets, Hubert J. M., Uludağ, Kâmil
Publicado 2022

Non-extensitivity and criticality of atomic hydropathicity around a voltage-gated sodium channel’s pore: a modeling study

por Xenakis, Markos N., Kapetis, Dimos, Yang, Yang, Heijman, Jordi, Waxman, Stephen G., Lauria, Giuseppe, Faber, Catharina G., Smeets, Hubert J., Lindsey, Patrick J., Westra, Ronald L.
Publicado 2021

Correction to: Non-extensitivity and criticality of atomic hydropathicity around a voltage-gated sodium channel’s pore: a modeling study

por Xenakis, Markos N., Kapetis, Dimos, Yang, Yang, Heijman, Jordi, Waxman, Stephen G., Lauria, Giuseppe, Faber, Catharina G., Smeets, Hubert J., Lindsey, Patrick J., Westra, Ronald L.
Publicado 2022

Plasma GDF-15 concentration is not elevated in open-angle glaucoma

por Hubens, Wouter H. G., Kievit, Mariëlle T., Berendschot, Tos T. J. M., de Coo, Irenaeus F. M., Smeets, Hubert J. M., Webers, Carroll A. B., Gorgels, Theo G. M. F.
Publicado 2021

Hydropathicity-based prediction of pain-causing NaV1.7 variants

por Xenakis, Makros N., Kapetis, Dimos, Yang, Yang, Gerrits, Monique M., Heijman, Jordi, Waxman, Stephen G., Lauria, Giuseppe, Faber, Catharina G., Westra, Ronald L., Lindsey, Patrick J., Smeets, Hubert J.
Publicado 2021

Lacosamide Inhibition of Na(V)1.7 Channels Depends on its Interaction With the Voltage Sensor Domain and the Channel Pore

por Labau, Julie I. R., Alsaloum, Matthew, Estacion, Mark, Tanaka, Brian, Dib-Hajj, Fadia B., Lauria, Giuseppe, Smeets, Hubert J. M., Faber, Catharina G., Dib-Hajj, Sulayman, Waxman, Stephen G.
Publicado 2021

Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study

por Haast, Roy A.M., Ivanov, Dimo, IJsselstein, Rutger J.T., Sallevelt, Suzanne C.E.H., Jansen, Jacobus F.A., Smeets, Hubert J.M., de Coo, Irenaeus F.M., Formisano, Elia, Uludağ, Kâmil
Publicado 2018

Myelin-Derived Lipids Modulate Macrophage Activity by Liver X Receptor Activation

por Bogie, Jeroen F. J., Timmermans, Silke, Huynh-Thu, Vân Anh, Irrthum, Alexandre, Smeets, Hubert J. M., Gustafsson, Jan-Åke, Steffensen, Knut R., Mulder, Monique, Stinissen, Piet, Hellings, Niels, Hendriks, Jerome J. A.
Publicado 2012

Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy

por Ślęczkowska, Milena, Almomani, Rowida, Marchi, Margherita, Salvi, Erika, de Greef, Bianca T A, Sopacua, Maurice, Hoeijmakers, Janneke G J, Lindsey, Patrick, Waxman, Stephen G, Lauria, Giuseppe, Faber, Catharina G, Smeets, Hubert J M, Gerrits, Monique M
Publicado 2022

De novo mtDNA point mutations are common and have a low recurrence risk

por Sallevelt, Suzanne C E H, de Die-Smulders, Christine E M, Hendrickx, Alexandra T M, Hellebrekers, Debby M E I, de Coo, Irenaeus F M, Alston, Charlotte L, Knowles, Charlotte, Taylor, Robert W, McFarland, Robert, Smeets, Hubert J M
Publicado 2017

Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

por van Rij, Maartje C., Jansen, Fenna A. R., Hellebrekers, Debby M. E. I., Onkenhout, W., Smeets, Hubert J. M., Hendrickx, Alexandra T., Gottschalk, Ralph W. H., Steggerda, Sylke J., Peeters‐Scholte, Cacha M. P. C. D., Haak, Monique C., Hilhorst‐Hofstee, Yvonne
Publicado 2016

Differential effect of lacosamide on Na(v)1.7 variants from responsive and non-responsive patients with small fibre neuropathy

por Labau, Julie I R, Estacion, Mark, Tanaka, Brian S, de Greef, Bianca T A, Hoeijmakers, Janneke G J, Geerts, Margot, Gerrits, Monique M, Smeets, Hubert J M, Faber, Catharina G, Merkies, Ingemar S J, Lauria, Giuseppe, Dib-Hajj, Sulayman D, Waxman, Stephen G
Publicado 2020

Lead-exposure associated miRNAs in humans and Alzheimer’s disease as potential biomarkers of the disease and disease processes

por Wen, Qingfeng, Verheijen, Marcha, Wittens, Mandy Melissa Jane, Czuryło, Julia, Engelborghs, Sebastiaan, Hauser, Duncan, van Herwijnen, Marcel H. M., Lundh, Thomas, Bergdahl, Ingvar A., Kyrtopoulos, Soterios A., de Kok, Theo M., Smeets, Hubert J. M., Briedé, Jacco Jan, Krauskopf, Julian
Publicado 2022

Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy

por Ślęczkowska, Milena, Almomani, Rowida, Marchi, Margherita, de Greef, Bianca T. A., Sopacua, Maurice, Hoeijmakers, Janneke G. J., Lindsey, Patrick, Salvi, Erika, Bönhof, Gidon J., Ziegler, Dan, Malik, Rayaz A., Waxman, Stephen G., Lauria, Giuseppe, Faber, Catharina G., Smeets, Hubert J. M., Gerrits, Monique M.
Publicado 2022

Hypoxic oligodendrocyte precursor cell-derived VEGFA is associated with blood–brain barrier impairment

por Manukjan, Narek, Majcher, Daria, Leenders, Peter, Caiment, Florian, van Herwijnen, Marcel, Smeets, Hubert J., Suidgeest, Ernst, van der Weerd, Louise, Vanmierlo, Tim, Jansen, Jacobus F. A., Backes, Walter H., van Oostenbrugge, Robert J., Staals, Julie, Fulton, Daniel, Ahmed, Zubair, Blankesteijn, W. Matthijs, Foulquier, Sébastien
Publicado 2023

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

por Wilson, Ian J., Carling, Phillipa J., Alston, Charlotte L., Floros, Vasileios I., Pyle, Angela, Hudson, Gavin, Sallevelt, Suzanne C.E.H., Lamperti, Costanza, Carelli, Valerio, Bindoff, Laurence A., Samuels, David C., Wonnapinij, Passorn, Zeviani, Massimo, Taylor, Robert W., Smeets, Hubert J.M., Horvath, Rita, Chinnery, Patrick F
Publicado 2016

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect

por Theunissen, Tom E. J., Gerards, Mike, Hellebrekers, Debby M. E. I., van Tienen, Florence H., Kamps, Rick, Sallevelt, Suzanne C. E. H., Hartog, Elvira N. M. M.-D., Scholte, Hans R., Verdijk, Robert M., Schoonderwoerd, Kees, de Coo, Irenaeus F. M., Szklarczyk, Radek, Smeets, Hubert J. M.
Publicado 2017