Works matching AU Smeitink, Jan A.

Results: 129

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

Published in:

Human Mutation, 2017, v. 38, n. 12, p. 1786, doi. 10.1002/humu.23340

By:

Wortmann, Saskia B.;
Timal, Sharita;
Venselaar, Hanka;
Wintjes, Liesbeth T.;
Kopajtich, Robert;
Feichtinger, René G.;
Onnekink, Carla;
Mühlmeister, Mareike;
Brandt, Ulrich;
Smeitink, Jan A.;
Veltman, Joris A.;
Sperl, Wolfgang;
Lefeber, Dirk;
Pruijn, Ger;
Stojanovic, Vesna;
Freisinger, Peter;
v Spronsen, Francjan;
Derks, Terry GJ;
Veenstra-Knol, Hermine E.;
Mayr, Johannes A

Publication type:

Article

Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy.

Published in:

Human Mutation, 2015, v. 36, n. 1, p. 34, doi. 10.1002/humu.22715

By:

Baertling, Fabian;
van den Brand, Mariel;
Hertecant, Jozef L.;
Al‐Shamsi, Aisha;
van den Heuvel, Lambert;
Distelmaier, Felix;
Mayatepek, Ertan;
Smeitink, Jan A.;
Nijtmans, Leo G.J.;
Rodenburg, Richard J.T.

Publication type:

Article

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

Published in:

Human Mutation, 2009, v. 30, n. 7, p. E728, doi. 10.1002/humu.21037

By:

Hoefs, Saskia J.G.;
Dieteren, Cindy E.J.;
Rodenburg, Richard J.;
Naess, Karin;
Bruhn, Helene;
Wibom, Rolf;
Wagena, Esther;
Willems, Peter H.;
Smeitink, Jan A.M.;
Nijtmans, Leo G.;
van den Heuvel, Lambert P.

Publication type:

Article

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 130, doi. 10.1002/humu.20062

By:

Gootjes, Jeannette;
Schmohl, Frank;
Mooijer, Petra A.W.;
Dekker, Conny;
Mandel, Hanna;
Topcu, Meral;
Huemer, Martina;
von Schütz, M.;
Marquardt, Thorsten;
Smeitink, Jan A.;
Waterham, Hans R.;
Wanders, Ronald J.A.

Publication type:

Article

Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature.

Published in:

Clinical Kidney Journal, 2019, v. 12, n. 6, p. 840, doi. 10.1093/ckj/sfz020

By:

Laat, Paul de;
Engelen, Nienke van;
Wetzels, Jack F;
Smeitink, Jan A M;
Janssen, Mirian C H

Publication type:

Article

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

Published in:

2007

By:

De Vries, Maaike C.;
Rodenburg, Richard J.;
Morava, Eva;
Van Kaauwen, Edwin P. M.;
Ter Laak, Henk;
Mullaart, Reinier A.;
Snoeck, Irina N.;
Van Hasselt, Peter M.;
Harding, Peter;
Van den Heuvel, Lambert P. W.;
Smeitink, Jan A. M.

Publication type:

journal article

Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.

Published in:

2004

By:

Morava, Eva;
Sengers, Rob;
Ter Laak, Henk;
Van den Heuvel, Lambert;
Janssen, Antoon;
Trijbels, Frans;
Cruysberg, Hans;
Boelen, Carolien;
Smeitink, Jan

Publication type:

journal article

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.

Published in:

2003

By:

Grafakou, Olga;
Oexle, Konrad;
van den Heuvel, Lambert;
Smeets, Roel;
Trijbels, Frans;
Goebel, Hans H.;
Bosshard, Nils;
Superti-Furga, Andrea;
Steinmann, Beat;
Smeitink, Jan

Publication type:

journal article

Nuclear genes and oxidative phosphorylation disorders: a review.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 15, p. S227, doi. 10.1007/PL00014408

By:

Smeitink, Jan A. M.;
Sengers, Rob C. A.;
Trijbels, Frans J. M.;
van den Heuvel, Lambert P.

Publication type:

Article

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

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

Functional consequences of mitochondrial tRNATrp and tRNAArg mutations causing combined OXPHOS defects.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 3, p. 324, doi. 10.1038/ejhg.2009.169

By:

Smits, Paulien;
Mattijssen, Sandy;
Morava, Eva;
van den Brand, Mariël;
van den Brandt, Frans;
Wijburg, Frits;
Pruijn, Ger;
Smeitink, Jan;
Nijtmans, Leo;
Rodenburg, Richard;
van den Heuvel, Lambert

Publication type:

Article

The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 2, p. 155, doi. 10.1038/sj.ejhg.5201735

By:

Ruiter, E. Mariken;
Siers, Marloes H.;
van den Elzen, Christa;
van Engelen, Baziel G.;
Smeitink, Jan A. M.;
Rodenburg, Richard J.;
Hol, Frans A.

Publication type:

Article

Defective protein glycosylation in patients with cutis laxa syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 414, doi. 10.1038/sj.ejhg.5201361

By:

Morava, Eva;
Wopereis, Suzan;
Coucke, Paul;
Gillessen-Kaesbach, Gabrielle;
Voit, Thomas;
Smeitink, Jan;
Wevers, Ron;
Grünewald, Stephanie

Publication type:

Article

Fear of disease progression in carriers of the m.3243A > G mutation.

Published in:

2018

By:

Custers, José A. E.;
de Laat, Paul;
Koene, Saskia;
Smeitink, Jan;
Janssen, Mirian C. H.;
Verhaak, Christianne

Publication type:

journal 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

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.

Published in:

Nature Genetics, 2007, v. 39, n. 4, p. 534, doi. 10.1038/ng2013

By:

Scheper, Gert C.;
van der Klok, Thom;
van Andel, Rob J.;
van Berkel, Carola G. M.;
Sissler, Marie;
Smet, Joél;
Muravina, Tatjana I.;
Serkov, Sergey V.;
Uziel, Graziella;
Bugiani, Marianna;
Schiffmann, Raphael;
Krägeloh-Mann, Ingeborg;
Smeitink, Jan A. M.;
Florentz, Catherine;
Van Coster, Rudy;
Pronk, Jan C.;
van der Knaap, Marjo S.

Publication type:

Article

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 260, doi. 10.1038/6772

By:

Schuelke, Markus;
Smeitink, Jan;
Mariman, Edwin;
Loeffen, Jan;
Plecko, Barbara;
Trijbels, Frans;
Stöckler-Ipsiroglu, Sylvia;
Heuvel, Lambert van den

Publication type:

Article

Unusual features of mitochondrial degeneration in skeletal muscle of patients with nuclear complex I mutation.

Published in:

Acta Neuropathologica, 2005, v. 110, n. 2, p. 199, doi. 10.1007/s00401-005-1036-2

By:

Dinopoulos, Argirios;
Smeitink, Jan;
Laak, Henk

Publication type:

Article

The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases.

Published in:

BioEssays, 2001, v. 23, n. 6, p. 518, doi. 10.1002/bies.1071

By:

van den Heuvel, Lambert;
Smeitink, Jan

Publication type:

Article

Cellular and animal models for mitochondrial complex I deficiency: A focus on the NDUFS4 subunit.

Published in:

IUBMB Life, 2013, v. 65, n. 3, p. 202, doi. 10.1002/iub.1127

By:

Breuer, Megan E.;
Willems, Peter H.G.M.;
Smeitink, Jan A.M.;
Koopman, Werner J.H.;
Nooteboom, Marco

Publication type:

Article

Photo-Induction and Automated Quantification of Reversible Mitochondrial Permeability Transition Pore Opening in Primary Mouse Myotubes.

Published in:

PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0114090

By:

Blanchet, Lionel;
Grefte, Sander;
Smeitink, Jan A. M.;
Willems, Peter H. G. M.;
Koopman, Werner J. H.

Publication type:

Article

Analysis of 953 Human Proteins from a Mitochondrial HEK293 Fraction by Complexome Profiling.

Published in:

PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068340

By:

Wessels, Hans J. C. T.;
Vogel, Rutger O.;
Lightowlers, Robert N.;
Spelbrink, Johannes N.;
Rodenburg, Richard J.;
van den Heuvel, Lambert P.;
van Gool, Alain J.;
Gloerich, Jolein;
Smeitink, Jan A. M.;
Nijtmans, Leo G.

Publication type:

Article

Towards the harmonization of outcome measures in children with mitochondrial disorders.

Published in:

Developmental Medicine & Child Neurology, 2013, v. 55, n. 8, p. 698, doi. 10.1111/dmcn.12119

By:

Koene, Saskia;
Jansen, Merel;
Verhaak, Chris M;
Vrueh, Remco LA;
Groot, Imelda JM;
Smeitink, Jan AM

Publication type:

Article

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.

Published in:

2021

By:

Bouman, Karlijn;
Groothuis, Jan T.;
Doorduin, Jonne;
van Alfen, Nens;
Udink ten Cate, Floris E. A.;
van den Heuvel, Frederik M. A.;
Nijveldt, Robin;
van Tilburg, Willem C. M.;
Buckens, Stan C. F. M.;
Dittrich, Anne T. M.;
Draaisma, Jos M. T.;
Janssen, Mirian C. H.;
Kamsteeg, Erik-Jan;
van Kleef, Esmee S. B.;
Koene, Saskia;
Smeitink, Jan A. M.;
Küsters, Benno;
van Tienen, Florence H. J.;
Smeets, Hubert J. M.;
van Engelen, Baziel G. M.

Publication type:

journal article

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

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

Metabolic impact of genetic and chemical ADP/ATP carrier inhibition in renal proximal tubule epithelial cells.

Published in:

Archives of Toxicology, 2023, v. 97, n. 7, p. 1927, doi. 10.1007/s00204-023-03510-7

By:

Hoogstraten, Charlotte A.;
Jacobs, Maaike M. E.;
de Boer, Guido;
van de Wal, Melissa A. E.;
Koopman, Werner J. H.;
Smeitink, Jan A. M.;
Russel, Frans G. M.;
Schirris, Tom J. J.

Publication type:

Article

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 14, p. 4103, doi. 10.1093/hmg/ddv149

By:

Hinttala, Reetta;
Sasarman, Florin;
Nishimura, Tamiko;
Antonicka, Hana;
Brunel-Guitton, Catherine;
Schwartzentruber, Jeremy;
Fahiminiya, Somayyeh;
Majewski, Jacek;
Faubert, Denis;
Ostergaard, Elsebet;
Smeitink, Jan A.;
Shoubridge, Eric A.

Publication type:

Article

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 656, doi. 10.1093/hmg/dds473

By:

Szklarczyk, Radek;
Wanschers, Bas F. J.;
Nijtmans, Leo G.;
Rodenburg, Richard J.;
Zschocke, Johannes;
Dikow, Nicola;
van den Brand, Mariël A. M.;
Hendriks-Franssen, Marthe G. M.;
Gilissen, Christian;
Veltman, Joris A.;
Nooteboom, Marco;
Koopman, Werner J. H.;
Willems, Peter H.G.M.;
Smeitink, Jan A. M.;
Huynen, Martijn A.;
van den Heuvel, Lambertus P.

Publication type:

Article

Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase.

Published in:

Annals of Clinical Biochemistry, 2003, v. 40, n. 1, p. 102, doi. 10.1258/000456303321016259

By:

Ruitenbeek, Wim;
Kobayashi, Keiko;
Iijima, Mikio;
Smeitink, Jan A.M.;
Engelke, Udo F.H.;
De Abreu, Ronney A.;
Kwast, Hanneke T.;
Saheki, Takeyori;
Boelen, Carolien A.;
De Jong, Jan G. N.;
Wevers, Ron A.

Publication type:

Article

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.

Published in:

Clinical Genetics, 2020, v. 97, n. 4, p. 556, doi. 10.1111/cge.13706

By:

Panneman, Daan M.;
Wortmann, Saskia B.;
Haaxma, Charlotte A.;
Hasselt, Peter M.;
Wolf, Nicole I.;
Hendriks, Yvonne;
Küsters, Benno;
Emst‐de Vries, Sjenet;
Westerlo, Els;
Koopman, Werner J.H.;
Wintjes, Liesbeth;
Brandt, Frans;
Vries, Maaike;
Lefeber, Dirk J.;
Smeitink, Jan A.M.;
Rodenburg, Richard J.

Publication type:

Article

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1544, doi. 10.1093/brain/awt086

By:

Jonckheere, An I.;
Renkema, G. Herma;
Bras, Maaike;
van den Heuvel, Lambert P.;
Hoischen, Alexander;
Gilissen, Christian;
Nabuurs, Sander B.;
Huynen, Martijn A.;
de Vries, Maaike C.;
Smeitink, Jan A.M.;
Rodenburg, Richard J.T.

Publication type:

Article

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. 3614, doi. 10.1093/brain/aws298

By:

Neeve, Vivienne C. M.;
Samuels, David C.;
Bindoff, Laurence A.;
van den Bosch, Bianca;
Van Goethem, Gert;
Smeets, Hubert;
Lombès, Anne;
Jardel, Claude;
Hirano, Michio;
DiMauro, Salvatore;
De Vries, Maaike;
Smeitink, Jan;
Smits, Bart W.;
de Coo, Ireneus F. M.;
Saft, Carsten;
Klopstock, Thomas;
Keiling, Bianca-Cortina;
Czermin, Birgit;
Abicht, Angela;
Lochmüller, Hanns

Publication type:

Article

Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 1, p. 12, doi. 10.1093/brain/awr261

By:

Nouws, Jessica;
Nijtmans, Leo G. J.;
Smeitink, Jan A.;
Vogel, Rutger O.

Publication type:

Article

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

Published in:

Brain: A Journal of Neurology, 2009, v. 132, n. 4, p. 833

By:

Felix Distelmaier;
Werner J.H. Koopman;
Lambertus P. van den Heuvel;
Richard J. Rodenburg;
Ertan Mayatepek;
Peter H.G.M. Willems;
Jan A.M. Smeitink

Publication type:

Article

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Published in:

Brain: A Journal of Neurology, 2009, v. 132, n. 1, p. 136, doi. 10.1093/brain/awn296

By:

Saskia B. Wortmann;
Richard J. T. Rodenburg;
An Jonckheere;
Maaike C. de Vries;
Marjan Huizing;
Katrin Heldt;
Lambert P. van den Heuvel;
Udo Wendel;
Leo A. Kluijtmans;
Udo F. Engelke;
Ron A. Wevers;
Jan A. M. Smeitink;
Eva Morava

Publication type:

Article

Overexpression of Akt converts radial growth melanoma to vertical growth melanoma.

Published in:

2007

By:

Govindarajan, Baskaran;
Sligh, James E.;
Vincent, Bethaney J.;
Meiling Li;
Canter, Jeffrey A.;
Nickoloff, Brian J.;
Rodenburg, Richard J.;
Smeitink, Jan A.;
Oberley, Larry;
Yuping Zhang;
Slingerland, Joyce;
Arnold, Rebecca S.;
Lambeth, J. David;
Cohen, Cynthia;
Lu Hilenski;
Griendling, Kathy;
Martínez-Diez, Marta;
Cuezva, José M.;
Arbiser, Jack L.;
Li, Meiling

Publication type:

journal article

CIA30 complex I assembly factor: a candidate for human complex I deficiency?

Published in:

Human Genetics, 2002, v. 110, n. 3, p. 264, doi. 10.1007/s00439-001-0673-3

By:

Janssen, Rolf;
Smeitink&, Jan;
Smeets, Roel;
van den Heuvel, Lambert

Publication type:

Article

Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients.

Published in:

Human Genetics, 2000, v. 106, n. 4, p. 385, doi. 10.1007/s004390000278

By:

Triepels, Ralf;
Smeitink, Jan;
Loeffen, Jan;
Smeets, Roel;
Trijbels, Frans;
van den Heuvel, Lambert

Publication type:

Article

Mitochondrial ADP/ATP exchange inhibition: a novel off-target mechanism underlying ibipinabant-induced myotoxicity.

Published in:

Scientific Reports, 2015, p. 14533, doi. 10.1038/srep14533

By:

Schirris, Tom J. J.;
Ritschel, Tina;
Herma Renkema, G.;
Willems, Peter H. G. M.;
Smeitink, Jan A. M.;
Russel, Frans G. M.

Publication type:

Article

Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.

Published in:

Scientific Reports, 2015, p. 8035, doi. 10.1038/srep08035

By:

Blanchet, Lionel;
Smeitink, Jan A. M.;
van Emst - de Vries, Sjenet E.;
Vogels, Caroline;
Pellegrini, Mina;
Jonckheere, An I.;
Rodenburg, Richard J. T.;
Buydens, Lutgarde M. C.;
Beyrath, Julien;
Willems, Peter H. G. M.;
Koopman, Werner J. H.

Publication type:

Article

One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.

Published in:

Metabolomics, 2021, v. 17, n. 1, p. 1, doi. 10.1007/s11306-020-01769-w

By:

Esterhuizen, Karien;
Lindeque, J. Zander;
Mason, Shayne;
van der Westhuizen, Francois H.;
Rodenburg, Richard J.;
de Laat, Paul;
Smeitink, Jan A. M.;
Janssen, Mirian C. H.;
Louw, Roan

Publication type:

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

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