Publications by authors named "Reetta Hinttala"

29Publications

Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.

Seizure 2019 Jul 19;69:99-104. Epub 2019 Mar 19.

PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland; Biocenter Oulu, University of Oulu, Oulu, Finland; Department of Children and Adolescents, Division of Pediatric Neurology, Oulu University Hospital, Oulu, Finland.

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https://linkinghub.elsevier.com/retrieve/pii/S10591311173083
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http://dx.doi.org/10.1016/j.seizure.2019.03.010DOI Listing
July 2019

Mitochondrial hearing loss mutations among Finnish preterm and term-born infants.

Audiol Res 2017 Jul 3;7(2):189. Epub 2017 Nov 3.

Faculty of Medicine, Arctic Health and Thule Institute, University of Oulu, Finland.

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http://dx.doi.org/10.4081/audiores.2017.189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5736999PMC
July 2017

Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis.

Neuropediatrics 2017 12 30;48(6):467-472. Epub 2017 Jun 30.

PEDEGO Research Unit (Research Unit for Pediatrics, Pediatric Neurology, Pediatric Surgery, Child Psychiatry, Dermatology, Clinical Genetics, Obstetrics and Gynecology, Otorhinolaryngology and Ophthalmology), University of Oulu, Oulu, Finland.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0037-1603976
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http://dx.doi.org/10.1055/s-0037-1603976DOI Listing
December 2017

Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.

BMC Neurol 2017 May 18;17(1):96. Epub 2017 May 18.

Research Unit of Clinical Neuroscience, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.

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http://dx.doi.org/10.1186/s12883-017-0883-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437394PMC
May 2017

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease.

BMC Med Genet 2017 Feb 10;18(1):14. Epub 2017 Feb 10.

Research Unit of Clinical Neuroscience, Neurology, University of Oulu, P.O. Box 5000, FI-90014, Oulu, Finland.

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http://dx.doi.org/10.1186/s12881-017-0377-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303298PMC
February 2017

Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model.

Toxicology 2015 May 5;331:47-56. Epub 2015 Mar 5.

PEDEGO Research Center and Medical Research Center Oulu, P.O. Box 5000, FIN-90014, University of Oulu, Oulu, Finland; Department of Children and Adolescents, Division of Pediatric Neurology, Oulu University Hospital, P.O. Box 23, FI-90029 OYS, Oulu, Finland.

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http://dx.doi.org/10.1016/j.tox.2015.03.001DOI Listing
May 2015

Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation.

Liver Transpl 2014 Nov 3;20(11):1402-12. Epub 2014 Oct 3.

Institute of Clinical Medicine, Department of Pediatrics, University of Oulu, Oulu, Finland; Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland.

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http://dx.doi.org/10.1002/lt.23965DOI Listing
November 2014

Progressive external ophthalmoplegia in southwestern Finland: a clinical and genetic study.

Neuroepidemiology 2012 24;38(2):114-9. Epub 2012 Feb 24.

Department of Neurology, Turku University Hospital, Turku, Finland.

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http://dx.doi.org/10.1159/000336112DOI Listing
June 2012

LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1.

Biochim Biophys Acta 2012 Feb 4;1817(2):312-8. Epub 2011 Nov 4.

Department of Medical Biochemistry and Molecular Biology, University of Oulu, Finland.

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http://dx.doi.org/10.1016/j.bbabio.2011.10.014DOI Listing
February 2012

Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration.

Mol Neurodegener 2010 Feb 2;5. Epub 2010 Feb 2.

Institute of Clinical Medicine, Neurology, University of Oulu, Oulu, Finland.

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http://dx.doi.org/10.1186/1750-1326-5-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2830999PMC
February 2010

Novel POLG1 mutations in a patient with adult-onset progressive external ophthalmoplegia and encephalopathy.

BMJ Case Rep 2010 Sep 29;2010. Epub 2010 Sep 29.

Department of Neurology, Turku University Hospital, Turku, Finland.

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http://dx.doi.org/10.1136/bcr.01.2010.2604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3028303PMC
September 2010

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

Mol Genet Metab 2007 Jan 22;90(1):10-4. Epub 2006 Sep 22.

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Center, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192060028
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http://dx.doi.org/10.1016/j.ymgme.2006.08.003DOI Listing
January 2007

The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.

Hum Mol Genet 2006 Sep 18;15(17):2543-52. Epub 2006 Jul 18.

Department of Medical Biochemistry and Molecular Biology, University of Oulu, and Clinical Research Center, Oulu University Hospital, Finland.

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http://dx.doi.org/10.1093/hmg/ddl176DOI Listing
September 2006

Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.

J Mol Med (Berl) 2005 Oct 3;83(10):786-94. Epub 2005 Sep 3.

Department of Neurology, University of Oulu, Finland.

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http://dx.doi.org/10.1007/s00109-005-0712-yDOI Listing
October 2005

Secondary metabolic effects in complex I deficiency.

Ann Neurol 2005 Oct;58(4):544-52

Department of Women and Childrens Health, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ana.20570DOI Listing
October 2005