Hubert J M Smeets

Hubert J M Smeets

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Hubert J M Smeets

Hubert J M Smeets

Publications by authors named "Hubert J M Smeets"

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55Publications

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A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

Neuromuscul Disord 2019 Sep 21;29(9):693-697. Epub 2019 Aug 21.

Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

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http://dx.doi.org/10.1016/j.nmd.2019.08.005DOI Listing
September 2019

A zebrafish model to study small-fiber neuropathy reveals a potential role for GDAP1.

Mitochondrion 2019 Jul 22;47:273-281. Epub 2019 Jan 22.

Department of Genetics and Cell Biology, Clinical Genomics Unit, Maastricht University, P.O. Box 616, 6200 MD, Maastricht, The Netherlands.; MHeNs School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2019.01.002DOI Listing
July 2019

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

Neuroimage Clin 2018 31;18:231-244. Epub 2018 Jan 31.

Department of Cognitive Neuroscience, Maastricht University, PO Box 616, 6200MD Maastricht, Netherlands.

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http://dx.doi.org/10.1016/j.nicl.2018.01.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984598PMC
February 2019

Expression of pathogenic SCN9A mutations in the zebrafish: A model to study small-fiber neuropathy.

Exp Neurol 2019 01 11;311:257-264. Epub 2018 Oct 11.

Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands; GROW-School for Oncology and Developmental Biology, Maastricht University, Maastricht, the Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S00144886183057
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http://dx.doi.org/10.1016/j.expneurol.2018.10.008DOI Listing
January 2019

Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices.

J Med Genet 2017 10 1;54(10):693-697. Epub 2017 Jul 1.

Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2017-104633DOI Listing
October 2017

A comprehensive strategy for exome-based preconception carrier screening.

Genet Med 2017 05 27;19(5):583-592. Epub 2016 Oct 27.

Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.

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http://dx.doi.org/10.1038/gim.2016.153DOI Listing
May 2017

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.

J Pediatr 2017 03 9;182:371-374.e2. Epub 2017 Jan 9.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2016.12.032DOI Listing
March 2017

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.

Hum Reprod 2017 03;32(3):698-703

Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.

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http://dx.doi.org/10.1093/humrep/dew356DOI Listing
March 2017

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.

Front Neurol 2016 16;7:203. Epub 2016 Nov 16.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, Netherlands; Maastricht Centre for Systems Biology (MaCSBio), Maastricht, Netherlands.

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http://dx.doi.org/10.3389/fneur.2016.00203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110515PMC
November 2016

Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells.

Cell Rep 2016 07 30;16(3):622-30. Epub 2016 Jun 30.

Department of Genetics and Cell Biology, Clinical Genomics Unit, School for Oncology and Developmental Biology (GROW), Maastricht University Medical Centre, 6200MD Maastricht, the Netherlands; Maastricht Centre for Systems Biology (MaCSBio), Maastricht University Medical Centre, 6200MD, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.06.023DOI Listing
July 2016

Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.

Eur Heart J 2016 06 24;37(23):1815-22. Epub 2015 Oct 24.

Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, P.O. Box 5800, 6229 GR Maastricht, The Netherlands School for Cardiovascular Diseases, Maastricht University Medical Centre, Maastricht, The Netherlands.

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http://dx.doi.org/10.1093/eurheartj/ehv522DOI Listing
June 2016

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.

Eur J Hum Genet 2016 Apr 22;24(4):619-22. Epub 2015 Jul 22.

Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, Maastricht, The Netherlands.

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http://www.nature.com/articles/ejhg2015158
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http://dx.doi.org/10.1038/ejhg.2015.158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929877PMC
April 2016

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.

Mol Genet Metab 2016 Mar 19;117(3):300-12. Epub 2015 Dec 19.

Department of Clinical Genetics, Research School GROW, Maastricht University Medical Centre, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2015.12.004DOI Listing
March 2016

Evolutionary defined role of the mitochondrial DNA in fertility, disease and ageing.

Hum Reprod Update 2015 Sep-Oct;21(5):671-89. Epub 2015 May 14.

Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, PO box 616 (box 16), 6200 MD Maastricht, The Netherlands School for Oncology and Developmental Biology (GROW), Maastricht University Medical Centre, Maastricht, The Netherlands

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http://dx.doi.org/10.1093/humupd/dmv024DOI Listing
February 2016

Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis.

Ann N Y Acad Sci 2015 Sep 27;1350:29-36. Epub 2015 Aug 27.

Department of Neurology, Erasmus MC-Sophia Children's Hospital, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1111/nyas.12866DOI Listing
September 2015

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

BMC Genomics 2015 Sep 15;16:691. Epub 2015 Sep 15.

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, PO BOX 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1186/s12864-015-1883-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570683PMC
September 2015

Preventing the transmission of mitochondrial DNA disorders: selecting the good guys or kicking out the bad guys.

Reprod Biomed Online 2013 Dec 7;27(6):599-610. Epub 2013 Sep 7.

Unit Clinical Genomics, Department of Genetics and Cell Biology, School for Growth and Development and for Cardiovascular Research, Maastricht University Medical Centre, Maastricht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.rbmo.2013.08.007DOI Listing
December 2013

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

J Inherit Metab Dis 2010 Dec 12;33 Suppl 3:S139-43. Epub 2010 Feb 12.

Department of Clinical Genetics, Laboratory for Biochemical Genetics, Maastricht University Medical Centre, P Debyelaan 25, 6229 HX, Maastricht, The Netherlands.

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http://dx.doi.org/10.1007/s10545-010-9049-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757267PMC
December 2010

Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association.

Biochem Biophys Res Commun 2010 Nov 1;402(2):203-8. Epub 2010 Oct 1.

Department of Clinical Genomics, Maastricht University, Universiteitssingel 50, P.O. Box 616, 6200 MD, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.bbrc.2010.09.109DOI Listing
November 2010

Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation.

Biochim Biophys Acta 2010 Feb 15;1797(2):197-203. Epub 2009 Oct 15.

Department of Neurology, Erasmus MC Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbabio.2009.10.003DOI Listing
February 2010

Aortic distensibility alterations in adults with m.3243A>G MELAS gene mutation.

Swiss Med Wkly 2009 Feb;139(7-8):117-20

Department of Cardiology, Thorax Centre, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/smw-12390DOI Listing
February 2009

Cardiac involvement in adults with m.3243A>G MELAS gene mutation.

Am J Cardiol 2007 Jan 29;99(2):264-9. Epub 2006 Nov 29.

Department of Cardiology, Thoraxcenter, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.amjcard.2006.07.089DOI Listing
January 2007

Biologically relevant effects of mRNA amplification on gene expression profiles.

BMC Bioinformatics 2006 Apr 11;7:200. Epub 2006 Apr 11.

BiGCaT Bioinformatics, University of Maastricht and Technical University Eindhoven, Maastricht, The Netherlands.

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http://dx.doi.org/10.1186/1471-2105-7-200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1523219PMC
April 2006

HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency.

Cardiovasc Res 2005 Aug;67(3):467-75

Department of Genetics and Cell Biology (CARIM/NUTRIM), University of Maastricht, P.O. Box 616 (#16), 6200 MD Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.cardiores.2005.05.017DOI Listing
August 2005

Regional absence of mitochondria causing energy depletion in the myocardium of muscle LIM protein knockout mice.

Cardiovasc Res 2005 Feb;65(2):411-8

Cardiovascular Research Institute Maastricht (CARIM), Department of Genetics and Cell Biology, Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands.

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https://academic.oup.com/cardiovascres/article-lookup/doi/10
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http://dx.doi.org/10.1016/j.cardiores.2004.10.025DOI Listing
February 2005

Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.

J Mol Med (Berl) 2004 Mar 4;82(3):182-8. Epub 2004 Feb 4.

Department of Pharmacogenomics, Johnson & Johnson Pharmaceutical Research and Development, Turnhoutseweg 30, Beerse, Belgium.

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http://dx.doi.org/10.1007/s00109-003-0522-zDOI Listing
March 2004