Reka Kovacs-Nagy

Reka Kovacs-Nagy

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Reka Kovacs-Nagy

Reka Kovacs-Nagy

Publications by authors named "Reka Kovacs-Nagy"

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Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

Eur J Med Genet 2019 Nov 10;62(11):103572. Epub 2018 Nov 10.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.11.006DOI Listing
November 2019

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

Am J Hum Genet 2019 Jul 13;105(1):108-121. Epub 2019 Jun 13.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612521PMC
July 2019

A rare P2RX7 variant in a Hungarian family with multiple sclerosis.

Mult Scler Relat Disord 2019 01 27;27:340-341. Epub 2018 Oct 27.

Department of Neurology, Medical University of Vienna, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.msard.2018.10.110DOI Listing
January 2019

A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental Delay.

Neuropediatrics 2018 12 10;49(6):401-404. Epub 2018 Sep 10.

Institute of Human Genetics, Technical University of Munich, Munich, Germany.

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http://dx.doi.org/10.1055/s-0038-1669926DOI Listing
December 2018

Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy.

Neuropediatrics 2018 02 15;49(1):59-62. Epub 2017 Sep 15.

Institute of Human Genetics, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1055/s-0037-1606370DOI Listing
February 2018

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.

Clin Chim Acta 2017 Aug 17;471:95-100. Epub 2017 May 17.

Department of Human Genetics, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.05.023DOI Listing
August 2017

Association of impulsivity and polymorphic microRNA-641 target sites in the SNAP-25 gene.

PLoS One 2013 31;8(12):e84207. Epub 2013 Dec 31.

Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest, Hungary.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0084207PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3877256PMC
September 2014

Glycogen synthase kinase 3 beta gene structural variants as possible risk factors of bipolar depression.

Am J Med Genet B Neuropsychiatr Genet 2014 Apr 21;165B(3):217-22. Epub 2014 Feb 21.

Institute of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest, Hungary.

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http://dx.doi.org/10.1002/ajmg.b.32223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980030PMC
April 2014

Association of impulsivity and polymorphic microRNA-641 target sites in the SNAP-25 gene.

PLoS One 2013 31;8(12):e84207. Epub 2013 Dec 31.

Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest, Hungary.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0084207PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3877256PMC
September 2014

Haplotyping of putative microRNA-binding sites in the SNAP-25 gene.

Electrophoresis 2011 Aug 9;32(15):2013-20. Epub 2011 May 9.

Department of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest, Hungary.

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http://dx.doi.org/10.1002/elps.201000536DOI Listing
August 2011

Association between hypnotizability and the catechol-O-methyltransferase (COMT) polymorphism.

Int J Clin Exp Hypn 2010 Jul;58(3):301-15

Institute of Psychology, Eötvös Loránd University, Budapest, Hungary.

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http://dx.doi.org/10.1080/00207141003760827DOI Listing
July 2010

[Association between nicotine dependence and the -521 promoter polymorfism of the dopamine D4 receptor in patients with major depression].

Neuropsychopharmacol Hung 2009 Jun;11(2):59-67

Eötvös Loránd Tudományegyetem, Pszichológiai Intézet, Budapest.

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June 2009

SNAP-25: a novel candidate gene in psychiatric genetics.

Neuropsychopharmacol Hung 2009 Jun;11(2):89-94

Institute of Medical Chemistry, Molecular Biology and Pathobiochemistry, Semmelweis University, Budapest, Hungary.

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June 2009