Tom E J Theunissen

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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March 2017

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

Authors:

Tom E J Theunissen Radek Szklarczyk Mike Gerards Debby M E I Hellebrekers Elvira N M Mulder-Den Hartog Jo Vanoevelen Rick Kamps Bart de Koning S Lane Rutledge Thomas Schmitt-Mechelke Carola G M van Berkel Marjo S van der Knaap Irenaeus F M de Coo Hubert J M Smeets

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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November 2016

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

Authors:

Auke B C Otten Tom E J Theunissen Josien G Derhaag Ellen H Lambrichs Iris B W Boesten Marie Winandy Aafke P A van Montfoort Katsiaryna Tarbashevich Erez Raz Mike Gerards Jo M Vanoevelen Bianca J C van den Bosch Marc Muller Hubert J M Smeets

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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July 2016

Publications by authors named "Tom E J Theunissen"

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.

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

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Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.

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

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

Authors:

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

Authors: