Publications by authors named "Metodi D Metodiev"

22Publications

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.

Am J Hum Genet 2018 02;102(2):266-277

UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France; Laboratory of Excellence GR-Ex, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183000
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http://dx.doi.org/10.1016/j.ajhg.2018.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985451PMC
February 2018

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency.

J Med Genet 2018 Jun 22;55(6):378-383. Epub 2018 Jan 22.

Department of Pediatric Radiology, INSERM UMR 1163 and INSERM U1000, Paris Descartes University, Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-105094DOI Listing
June 2018

Mouse models for mitochondrial diseases.

Hum Mol Genet 2016 Oct 21;25(R2):R115-R122. Epub 2016 Jun 21.

INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France

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http://dx.doi.org/10.1093/hmg/ddw176DOI Listing
October 2016

Overexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal methylation status or hearing.

Hum Mol Genet 2015 Dec 12;24(25):7286-94. Epub 2015 Oct 12.

Department of Laboratory Medicine, Karolinska Institutet, Retzius väg 8, 171 77 Stockholm, Sweden, Max Planck Institute for Biology of Ageing, Joseph-Stelzmann-Strasse 9b, 50931 Cologne, Germany

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http://dx.doi.org/10.1093/hmg/ddv427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664167PMC
December 2015

Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.

Eur J Hum Genet 2015 Jun 17;23(6):880-2. Epub 2014 Sep 17.

INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795040PMC
June 2015