Works by Smeitink, Jan A.

Results: 129

Author’s reply to: anesthesia care for muscle biopsy in children with myopathies by Dr Ferrari Fabio.

Published in:

2009

By:

DRIESSEN, JACQUES;
SMEITINK, JAN

Publication type:

Letter

Anesthesia-related morbidity and mortality after surgery for muscle biopsy in children with mitochondrial defects.

Published in:

Pediatric Anesthesia, 2007, v. 17, n. 1, p. 16, doi. 10.1111/j.1460-9592.2006.02043.x

By:

DRIESSEN, JACQUES;
WILLEMS, SIMONE;
DERCKSEN, SANDER;
GIELE, JANNEKE;
VAN DER STAAK, FRANS;
SMEITINK, JAN

Publication type:

Article

Development of subdural effusions in association with pyruvate dehydrogenase deficiency.

Published in:

2005

By:

Raissaki, Maria;
Grafakou, Olga;
Giannopoulos, Andreas;
Spilioti, Martha;
Rodenburg, Richard;
Smeitink, Jan;
Evangeliou, Athanasios;
Gourtsoyiannis, Nicholas

Publication type:

Case Study

Intra‐patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.523

By:

de Laat, Paul;
Rodenburg, Richard J.;
Smeitink, Jan A. M.;
Janssen, Mirian C. H.

Publication type:

Article

The human mitochondrial ribosome recycling factor is essential for cell viability.

Published in:

Nucleic Acids Research, 2008, v. 36, n. 18, p. 5787, doi. 10.1093/nar/gkn576

By:

Rorbach, Joanna;
Richter, Ricarda;
Wessels, Hans J.;
Wydro, Mateusz;
Pekalski, Marcin;
Farhoud, Murtada;
Kühl, Inge;
Gaisne, Mauricette;
Bonnefoy, Nathalie;
Smeitink, Jan A.;
Lightowlers, Robert N.;
Chrzanowska-Lightowlers, Zofia M.A.

Publication type:

Article

Reconstructing the evolution of the mitochondrial ribosomal proteome.

Published in:

Nucleic Acids Research, 2007, v. 35, n. 14, p. 4686, doi. 10.1093/nar/gkm441

By:

Smits, Paulien;
Smeitink, Jan A. M.;
van den Heuvel, Lambert P.;
Huynen, Martijn A.;
Ettema, Thijs J. G.

Publication type:

Article

Sequence Analysis of the Structural Nuclear Encoded Subunits and Assembly Genes of Cytochrome c Oxidase in a Cohort of 10 Isolated Complex IV--Deficient Patients Revealed Five Mutations.

Published in:

Journal of Child Neurology, 2006, v. 21, n. 6, p. 508, doi. 10.1177/08830738060210062501

By:

Coenen, Marieke J. H.;
Smeitink, Jan A. M.;
Pots, Jeanette M.;
van Kaauwen, Edwin;
Trijbels, Frans J. M.;
Hol, Frans A.;
van den Heuvel, Lambert P.

Publication type:

Article

Application of a Ketogenic Diet in Children With Autistic Behavior: Pilot Study.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 2, p. 113, doi. 10.1177/08830738030180020501

By:

Evangeliou, Athanasios;
Vlachonikolis, Ioannis;
Mihailidou, Helen;
Spilioti, Martha;
Skarpalezou, Astrinia;
Makaronas, Nikolaos;
Prokopiou, Ahilleas;
Christodoulou, Panagiotis;
Liapi-Adamidou, Georgia;
Helidonis, Emmanouel;
Stylianos;
Smeitink, Jan

Publication type:

Article

Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study.

Published in:

2017

By:

Ramakers, Rob;
Koene, Saskia;
Groothuis, Jan T;
de Laat, Paul;
Janssen, Mirian C H;
Smeitink, Jan

Publication type:

journal article

KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers.

Published in:

2017

By:

Koene, Saskia;
Spaans, Edwin;
Van Bortel, Luc;
Van Lancker, Griet;
Delafontaine, Brant;
Badilini, Fabio;
Beyrath, Julien;
Smeitink, Jan

Publication type:

journal article

Quantification of gait in mitochondrial m.3243A > G patients: a validation study.

Published in:

2017

By:

Ramakers, Rob;
Koene, Saskia;
Groothuis, Jan T.;
de Laat, Paul;
Janssen, Mirian C. H.;
Smeitink, Jan;
Janssen, Mirian Ch

Publication type:

journal article

Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation.

Published in:

2016

By:

Verhaak, Christianne;
de Laat, Paul;
Koene, Saskia;
Tibosch, Marijke;
Rodenburg, Richard;
de Groot, Imelda;
Knoop, Hans;
Janssen, Mirian;
Smeitink, Jan

Publication type:

journal article

OXPHOS mutations and neurodegeneration.

Published in:

EMBO Journal, 2013, v. 32, n. 1, p. 9, doi. 10.1038/emboj.2012.300

By:

Koopman, Werner J H;
Distelmaier, Felix;
Smeitink, Jan AM;
Willems, Peter HGM

Publication type:

Article

A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome.

Published in:

EMBO Journal, 2010, v. 29, n. 6, p. 1116, doi. 10.1038/emboj.2010.14

By:

Richter, Ricarda;
Rorbach, Joanna;
Pajak, Aleksandra;
Smith, Paul M.;
Wessels, Hans J.;
Huynen, Martijn A.;
Smeitink, Jan A.;
Lightowlers, Robert N.;
Chrzanowska-Lightowlers, Zofia M.

Publication type:

Article

Identifying trajectories of fatigue in patients with primary mitochondrial disease due to the m.3243A > G variant.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1130, doi. 10.1002/jimd.12546

By:

Klein, Inge‐Lot;
Verhaak, Christianne M.;
Smeitink, Jan A. M.;
de Laat, Paul;
Janssen, Mirian C. H.;
Custers, José A. E.

Publication type:

Article

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi‐based international workshop.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1267, doi. 10.1007/s10545-018-0229-5

By:

Koene, Saskia;
van Bon, Lara;
Bertini, Enrico;
Jimenez‐Moreno, Cecilia;
van der Giessen, Lianne;
de Groot, Imelda;
McFarland, Robert;
Parikh, Sumit;
Rahman, Shamima;
Wood, Michelle;
Zeman, Jiri;
Janssen, Anjo;
Smeitink, Jan

Publication type:

Article

Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1267, doi. 10.1007/s10545-018-0229-5

By:

Koene, Saskia;
van Bon, Lara;
Bertini, Enrico;
Jimenez-Moreno, Cecilia;
van der Giessen, Lianne;
de Groot, Imelda;
McFarland, Robert;
Parikh, Sumit;
Rahman, Shamima;
Wood, Michelle;
Zeman, Jiri;
Janssen, Anjo;
Smeitink, Jan

Publication type:

Article

Quantification of gait in children with mitochondrial disease.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 731, doi. 10.1007/s10545-018-0148-5

By:

Koene, Saskia;
Stolwijk, Niki M.;
Ramakers, Rob;
de Vries, Maaike;
de Boer, Lonneke;
Janssen, Mirian C. H.;
de Groot, Imelda;
Smeitink, Jan

Publication type:

Article

International Paediatric Mitochondrial Disease Scale.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 705, doi. 10.1007/s10545-016-9948-7

By:

Koene, Saskia;
Hendriks, Jan;
Dirks, Ilse;
Boer, Lonneke;
Vries, Maaike;
Janssen, Mirian;
Smuts, Izelle;
Fung, Cheuk-Wing;
Wong, Virginia;
Coo, I.;
Vill, Katharina;
Stendel, Claudia;
Klopstock, Thomas;
Falk, Marni;
McCormick, Elizabeth;
McFarland, Robert;
Groot, Imelda;
Smeitink, Jan

Publication type:

Article

Increased mitochondrial ATP production capacity in brain of healthy mice and a mouse model of isolated complex I deficiency after isoflurane anesthesia.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 59, doi. 10.1007/s10545-015-9885-x

By:

Manjeri, Ganesh;
Rodenburg, Richard;
Blanchet, Lionel;
Roelofs, Suzanne;
Nijtmans, Leo;
Smeitink, Jan;
Driessen, Jacques;
Koopman, Werner;
Willems, Peter

Publication type:

Article

High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 477, doi. 10.1007/s10545-014-9773-9

By:

Franik, Sebastian;
Huidekoper, Hidde;
Visser, Gepke;
Vries, Maaike;
Boer, Lonneke;
Hermans-Peters, Marion;
Rodenburg, Richard;
Verhaak, Chris;
Vlieger, Arine;
Smeitink, Jan;
Janssen, Mirian;
Wortmann, Saskia

Publication type:

Article

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 391, doi. 10.1007/s10545-014-9787-3

By:

Sperl, Wolfgang;
Fleuren, Leanne;
Freisinger, Peter;
Haack, Tobias;
Ribes, Antonia;
Feichtinger, René;
Rodenburg, Richard;
Zimmermann, Franz;
Koch, Johannes;
Rivera, Isabel;
Prokisch, Holger;
Smeitink, Jan;
Mayr, Johannes

Publication type:

Article

Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 467, doi. 10.1007/s10545-014-9796-2

By:

Danhauser, Katharina;
Smeitink, Jan;
Freisinger, Peter;
Sperl, Wolfgang;
Sabir, Hemmen;
Hadzik, Berit;
Mayatepek, Ertan;
Morava, Eva;
Distelmaier, Felix

Publication type:

Article

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 437, doi. 10.1007/s10545-015-9823-y

By:

Wortmann, Saskia;
Koolen, David;
Smeitink, Jan;
Heuvel, Lambert;
Rodenburg, Richard

Publication type:

Article

Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 2, p. 323, doi. 10.1007/s10545-014-9737-0

By:

Brands, Marion;
Güngör, Deniz;
Hout, Johanna;
Karstens, Francois;
Oussoren, Esmee;
Plug, Iris;
Boelens, Jaap;
Hasselt, Peter;
Hollak, Carla;
Mulder, Margot;
Gozalbo, Estela;
Smeitink, Jan;
Smit, G.;
Wijburg, Frits;
Meutgeert, Hanka;
Ploeg, Ans

Publication type:

Article

3-Methylglutaconic aciduria-lessons from 50 genes and 977 patients.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 913, doi. 10.1007/s10545-012-9579-6

By:

Wortmann, Saskia;
Kluijtmans, Leo;
Rodenburg, Richard;
Sass, Jörn;
Nouws, Jessica;
Kaauwen, Edwin;
Kleefstra, Tjitske;
Tranebjaerg, Lisbeth;
Vries, Maaike;
Isohanni, Pirjo;
Walter, Katharina;
Alkuraya, Fowzan;
Smuts, Izelle;
Reinecke, Carolus;
Westhuizen, Francois;
Thorburn, David;
Smeitink, Jan;
Morava, Eva;
Wevers, Ron

Publication type:

Article

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1059, doi. 10.1007/s10545-012-9465-2

By:

Laat, Paul;
Koene, Saskia;
Heuvel, Lambert;
Rodenburg, Richard;
Janssen, Mirian;
Smeitink, Jan

Publication type:

Article

Erratum to: Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation.

Published in:

2012

By:

Laat, Paul;
Koene, Saskia;
Heuvel, Lambert;
Rodenburg, Richard;
Janssen, Mirian;
Smeitink, Jan

Publication type:

Correction Notice

Mitochondrial ATP synthase: architecture, function and pathology.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 211, doi. 10.1007/s10545-011-9382-9

By:

Jonckheere, An;
Smeitink, Jan;
Rodenburg, Richard

Publication type:

Article

Modeling mitochondrial dysfunctions in the brain: from mice to men.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 193, doi. 10.1007/s10545-011-9375-8

By:

Breuer, Megan;
Willems, Peter;
Russel, Frans;
Koopman, Werner;
Smeitink, Jan

Publication type:

Article

Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 293, doi. 10.1007/s10545-009-9005-x

By:

Koene, Saskia;
Willems, Peter;
Roestenberg, Peggy;
Koopman, Werner;
Smeitink, Jan

Publication type:

Article

Metabolic manipulators: a well founded strategy to combat mitochondrial dysfunction.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 315, doi. 10.1007/s10545-010-9162-y

By:

Koene, Saskia;
Smeitink, Jan

Publication type:

Article

Mitochondrial medicine.

Published in:

2011

By:

Koene, Saskia;
Smeitink, Jan

Publication type:

Editorial

The Redox Modulating Sonlicromanol Active Metabolite KH176m and the Antioxidant MPG Protect Against Short-Duration Cardiac Ischemia-Reperfusion Injury.

Published in:

Cardiovascular Drugs & Therapy, 2021, v. 35, n. 4, p. 745, doi. 10.1007/s10557-021-07189-9

By:

Xiao, Yang;
Yim, Karen;
Zhang, Hong;
Bakker, Diane;
Nederlof, Rianne;
Smeitink, Jan A. M.;
Renkema, Herma;
Hollmann, Markus W.;
Weber, Nina C.;
Zuurbier, Coert J.

Publication type:

Article

Oxidative switch drives mitophagy defects in dopaminergic parkin mutant patient neurons.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-72345-4

By:

Schwartzentruber, Aurelie;
Boschian, Camilla;
Lopes, Fernanda Martins;
Myszczynska, Monika A.;
New, Elizabeth J.;
Beyrath, Julien;
Smeitink, Jan;
Ferraiuolo, Laura;
Mortiboys, Heather

Publication type:

Article

A Drosophila Mitochondrial Complex I Deficiency Phenotype Array.

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00245

By:

Foriel, Sarah;
Renkema, G. Herma;
Lasarzewski, Yvonne;
Berkhout, Job;
Rodenburg, Richard J.;
Smeitink, Jan A. M.;
Beyrath, Julien;
Schenck, Annette

Publication type:

Article

Live-Imaging Readouts and Cell Models for Phenotypic Profiling of Mitochondrial Function.

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00131

By:

Iannetti, Eligio F.;
Prigione, Alessandro;
Smeitink, Jan A. M.;
Koopman, Werner J. H.;
Beyrath, Julien;
Renkema, Herma

Publication type:

Article

Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD<sup>+</sup>.

Published in:

Cell Death & Disease, 2018, v. 9, n. 11, p. 1, doi. 10.1038/s41419-018-1179-4

By:

Iannetti, Eligio F.;
Smeitink, Jan A. M.;
Willems, Peter H. G. M.;
Beyrath, Julien;
Koopman, Werner J. H.

Publication type:

Article

Inhibition of the ER stress IRE1α inflammatory pathway protects against cell death in mitochondrial complex I mutant cells.

Published in:

Cell Death & Disease, 2018, v. 9, n. 6, p. 1, doi. 10.1038/s41419-018-0696-5

By:

Soustek, Meghan S.;
Balsa, Eduardo;
Barrow, Joeva J.;
Jedrychowski, Mark;
Vogel, Rutger;
Jan Smeitink;
Gygi, Steve P.;
Puigserver, Pere

Publication type:

Article

Mitochondrial disorders in children: toward development of small-molecule treatment strategies.

Published in:

EMBO Molecular Medicine, 2016, v. 8, n. 4, p. 311, doi. 10.15252/emmm.201506131

By:

Koopman, Werner JH;
Beyrath, Julien;
Fung, Cheuk‐Wing;
Koene, Saskia;
Rodenburg, Richard J;
Willems, Peter HGM;
Smeitink, Jan AM

Publication type:

Article

Enhanced number and activity of mitochondria in multiple sclerosis lesions.

Published in:

Journal of Pathology, 2009, v. 219, n. 2, p. 193, doi. 10.1002/path.2582

By:

Witte, Maarten E;
Bø, Lars;
Rodenburg, Richard J;
Belien, Jeroen A;
Musters, Rene;
Hazes, Thierry;
Wintjes, Liesbeth T;
Smeitink, Jan A;
Geurts, Jeroen JG;
De Vries, Helga E;
van der Valk, Paul;
van Horssen, Jack

Publication type:

Article

Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts.

Published in:

Annals of Neurology, 2008, v. 64, n. 5, p. 555, doi. 10.1002/ana.21492

By:

Mortiboys, Heather;
Thomas, Kelly Jean;
Koopman, Werner J. H.;
Klaffke, Stefanie;
Abou-Sleiman, Patrick;
Olpin, Simon;
Wood, Nicholas W.;
Willems, Peter H. G. M.;
Smeitink, Jan A. M.;
Cookson, Mark R.;
Bandmann, Oliver

Publication type:

Article

Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system.

Published in:

Annals of Neurology, 2008, v. 63, n. 4, p. 473, doi. 10.1002/ana.21328

By:

Janssen, Antoon J. M.;
Schuelke, Markus;
Smeitink, Jan A. M.;
Trijbels, Frans J. M.;
Sengers, Rob C. A.;
Lucke, Barbara;
Wintjes, Liesbeth T. M.;
Morava, Eva;
van Engelen, Baziel G. M.;
Smits, Bart W.;
Hol, Frans A.;
Siers, Marloes H.;
Ter Laak, Henk;
van der Knaap, Marjo S.;
Van Spronsen, Francjan J.;
Rodenburg, Richard J. T.;
van den Heuvel, Lambert P.

Publication type:

Article

Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.

Published in:

Annals of Neurology, 2007, v. 62, n. 4, p. 422, doi. 10.1002/ana.21199

By:

Verbeek, Marcel M.;
Steenbergen-Spanjers, Gerry C. H.;
Willemsen, Michèl A. A. P.;
Hol, Frans A.;
Smeitink, Jan;
Seeger, Jürgen;
Grattan-Smith, Padraic;
Ryan, Monique M.;
Hoffmann, Georg F.;
Donati, Maria A.;
Blau, Nenad;
Wevers, Ronald A.

Publication type:

Article

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

Published in:

2007

By:

Fernandez-Moreira D;
Ugalde C;
Smeets R;
Rodenburg RJ;
Lopez-Laso E;
Ruiz-Falco ML;
Briones P;
Martin MA;
Smeitink JA;
Arenas J;
Fernandez-Moreira, Daniel;
Ugalde, Cristina;
Smeets, Roel;
Rodenburg, Richard J T;
Lopez-Laso, Eduardo;
Ruiz-Falco, Maria L;
Briones, Paz;
Martin, Miguel A;
Smeitink, Jan A M;
Arenas, Joaquín

Publication type:

journal article

X‐linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

Published in:

Annals of Neurology, 2007, v. 61, n. 1, p. 73

By:

Daniel Fernandez‐Moreira;
Cristina Ugalde;
Roel Smeets;
Richard J. T. Rodenburg;
Eduardo Lopez‐Laso;
Maria L. Ruiz‐Falco;
Paz Briones;
Miguel A. Martin;
Jan A. M. Smeitink;
Joaquín Arenas

Publication type:

Article

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.

Published in:

Annals of Neurology, 2004, v. 56, n. 4, p. 560, doi. 10.1002/ana.20229

By:

Marieke J. H. Coenen;
Lambert P. van den Heuvel;
Cristina Ugalde;
Marike ten Brinke;
Leo G. J. Nijtmans;
Frans J. M. Trijbels;
Skadi Beblo;
Esther M. Maier;
Ania C. Muntau;
Jan A. M. Smeitink

Publication type:

Article

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.

Published in:

Annals of Neurology, 2003, v. 54, n. 5, p. 665

By:

Cristina Ugalde;
Ralf H. Triepels;
Marieke J.H. Coenen;
Lambert P. Van Den Heuvel;
Roel Smeets;
Johanna Uusimaa;
Paz Briones;
Jaume Campistol;
Kari Majamaa;
Jan A.M. Smeitink;
Leo G.J. Nijtmans

Publication type:

Article

Succinate in dystrophic white matter: A proton magnetic resonance spectroscopy finding characteristic for complex II deficiency.

Published in:

Annals of Neurology, 2002, v. 52, n. 1, p. 38, doi. 10.1002/ana.10232

By:

Brockmann, Knut;
Bjornstad, Alf;
Dechent, Peter;
Korenke, Christoph G.;
Smeitink, Jan;
Trijbels, J. M. Frans;
Athanassopoulos, Sabine;
Villagran, Rafael;
Skjeldal, Ola H.;
Wilichowski, Ekkehard;
Frahm, Jens;
Hanefeld, Folker

Publication type:

Article

Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome.

Published in:

2002

By:

Jordens, Eric Z.;
Palmieri, Luigi;
Huizing, Marjan;
Van Den Heuvel, Lambert P.;
Sengers, Rob C. A.;
Dörner, Andrea;
Ruitenbeek, Wim;
Trijbels, Frans J.;
Valsson, Jullius;
Sigfusson, Gunnlaugur;
Palmieri, Ferdinando;
Smeitink, Jan A. M.;
Dörner, Andrea

Publication type:

journal article