Publications by authors named "Kari Majamaa"

99Publications

Analysis of functional variants in mitochondrial DNA of Finnish athletes.

BMC Genomics 2019 Oct 29;20(1):784. Epub 2019 Oct 29.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12864-019-6171-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819560PMC
October 2019

Mitochondrial DNA variation in sudden cardiac death: a population-based study.

Int J Legal Med 2020 Jan 31;134(1):39-44. Epub 2019 May 31.

Division of Clinical Neurosciences, University of Turku and Turku University Hospital, Kiinamyllynkatu 4-8, 20520, Turku, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00414-019-02091-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6949201PMC
January 2020

HTT haplogroups in Finnish patients with Huntington disease.

Neurol Genet 2019 Jun 22;5(3):e334. Epub 2019 Apr 22.

Division of Clinical Neuroscience (S.Y., K.M.), Neurology, University of Oulu; Department of Neurology and Medical Research Center (S.Y., K.M.), Oulu University Hospital; Department of Neurology (J.O.T.S.), North Karelia Central Hospital, Siun Sote, Joensuu; Division of Clinical Neurosciences (J.O.T.S.), Turku University Hospital; Neurology (J.O.T.S.), University of Turku; Department of Clinical Genetics (M.H.), Turku University Hospital; and Institute of Biomedicine (M.H.), University of Turku, Finland.

View Article

Download full-text PDF

Source
http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
Publisher Site
http://dx.doi.org/10.1212/NXG.0000000000000334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481225PMC
June 2019

Prehospital and hospital delays for stroke patients treated with thrombolysis: A retrospective study from mixed rural-urban area in Northern Finland.

Australas Emerg Care 2019 Jun 22;22(2):76-80. Epub 2019 Feb 22.

Research Unit of Surgery, Anesthesiology and Intensive Care, Oulu University, Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.auec.2019.01.008DOI Listing
June 2019

Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.

BMC Neurol 2018 Sep 20;18(1):149. Epub 2018 Sep 20.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12883-018-1159-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6147040PMC
September 2018

The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype.

Brain Behav 2017 12 19;7(12):e00859. Epub 2017 Nov 19.

Division of Clinical Neurosciences University of Turku and Turku University Hospital Turku Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/brb3.859DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5745241PMC
December 2017

Genetic risk factors in Finnish patients with Parkinson's disease.

Parkinsonism Relat Disord 2017 Dec 29;45:39-43. Epub 2017 Sep 29.

Institute of Clinical Medicine, Department of Neurology, University of Oulu, Oulu, Finland; Department of Neurology and Medical Research Center, Oulu University Hospital, Oulu, Finland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2017.09.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812481PMC
December 2017

A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment.

Hear Res 2017 11 28;355:97-101. Epub 2017 Sep 28.

Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland; Research Unit of Clinical Neuroscience, University of Oulu, P.O. Box 5000, FI-90014 Oulu, Finland; Department of Neurology, Oulu University Hospital, P.O. Box 20, FI-90029 Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.heares.2017.09.013DOI Listing
November 2017

Comparison of mid-age-onset and late-onset Huntington's disease in Finnish patients.

J Neurol 2017 Oct 28;264(10):2095-2100. Epub 2017 Aug 28.

Unit of Neuroscience, Neurology, University of Oulu, Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-017-8600-2DOI Listing
October 2017

Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study.

Neuroepidemiology 2017 16;49(1-2):34-39. Epub 2017 Aug 16.

Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000478860DOI Listing
May 2018

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.

View Article

Download full-text PDF

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

Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study.

Neurobiol Aging 2017 05 2;53:195.e7-195.e10. Epub 2017 Feb 2.

Research Unit of Clinical Neuroscience, Department of Neurology, University of Oulu, Oulu, Finland; Medical Research Center Oulu, Department of Neurology, Oulu University Hospital and University of Oulu, Oulu, Finland; Department of Neurology, Oulu University Hospital, Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2017.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5385296PMC
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.

View Article

Download full-text PDF

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

Psychiatric and neurological disorders are associated with bullous pemphigoid - a nationwide Finnish Care Register study.

Sci Rep 2016 11 15;6:37125. Epub 2016 Nov 15.

PEDEGO Research Unit, University of Oulu; Department of Dermatology and Medical Research Center Oulu, Oulu University Hospital, P.O. Box 20, 90029 Oulu University Hospital, Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/srep37125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109264PMC
November 2016

A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.

J Neurol 2016 Nov 8;263(11):2188-2195. Epub 2016 Aug 8.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-016-8249-2DOI Listing
November 2016

Chronic subdural hematomas in Finnish patients with Huntington's disease.

Acta Neurochir (Wien) 2016 08 6;158(8):1487-90. Epub 2016 Jun 6.

Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00701-016-2845-xDOI Listing
August 2016

Comorbid epilepsy in Finnish patients with adult-onset Huntington's disease.

BMC Neurol 2016 Feb 10;16:24. Epub 2016 Feb 10.

Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12883-016-0545-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748597PMC
February 2016

Glycosaminoglycans in subdural fluid and CSF after meningeal injury.

Acta Neurochir (Wien) 2015 Dec 30;157(12):2105-10; discussion 2110. Epub 2015 Sep 30.

Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00701-015-2591-5DOI Listing
December 2015

A 13-year follow-up of Finnish patients with Salla disease.

J Neurodev Disord 2015 13;7(1):20. Epub 2015 Jul 13.

Department of Neurology, Oulu University Hospital, P.O. Box 20, 90029 Oulu, Finland ; Department of Clinical Medicine, Neurology, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s11689-015-9116-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4499899PMC
July 2015

Myocardial glucose uptake in patients with the m.3243A > G mutation in mitochondrial DNA.

J Inherit Metab Dis 2016 Jan 26;39(1):67-74. Epub 2015 Jun 26.

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

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
Web Search
http://link.springer.com/10.1007/s10545-015-9865-1
Publisher Site
http://dx.doi.org/10.1007/s10545-015-9865-1DOI Listing
January 2016

Epidemiology of early-onset Parkinson's disease in Finland.

Parkinsonism Relat Disord 2015 Aug 4;21(8):938-42. Epub 2015 Jun 4.

Division of Clinical Neurosciences, Neurology, University of Oulu, Oulu, Finland; Department of Neurology and Medical Research Center, Oulu University Hospital, Oulu, Finland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2015.06.003DOI Listing
August 2015

Association of mitochondrial DNA haplogroups and vascular complications of diabetes mellitus: A population-based study.

Diab Vasc Dis Res 2015 Jul 28;12(4):302-4. Epub 2015 Apr 28.

Department of Clinical Medicine, Neurology, University of Oulu and Oulu University Hospital, Oulu, Finland Medical Research Center Oulu, Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1479164115579007DOI Listing
July 2015

Effects of pathogenic mutations in membrane subunits of mitochondrial Complex I on redox activity and proton translocation studied by modeling in Escherichia coli.

Mitochondrion 2015 May 5;22:23-30. Epub 2015 Mar 5.

Faculty of Biochemistry and Molecular Medicine, University of Oulu, P.O. Box 5000, FIN-90014 Oulu, Finland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2015.02.007DOI Listing
May 2015

Epidemiology of Huntington's disease in Finland.

Parkinsonism Relat Disord 2015 Jan 3;21(1):46-9. Epub 2014 Nov 3.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2014.10.025DOI Listing
January 2015

Childhood hearing impairment in northern Finland, etiology and additional disabilities.

Int J Pediatr Otorhinolaryngol 2014 Nov 17;78(11):1852-6. Epub 2014 Aug 17.

Department of Otorhinolaryngology, Oulu University Hospital, Oulu, Finland; Institute of Clinical Medicine, Department of Otorhinolaryngology, University of Oulu, Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2014.08.007DOI Listing
November 2014

Response to Dobie.

J Am Acad Audiol 2014 Apr;25(4):415

Department of Clinical Medicine, Otorhinolaryngology,University of Oulu, Oulu, Finland.

View Article

Download full-text PDF

Source
April 2014

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.

View Article

Download full-text PDF

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

WFS1 mutations in hearing-impaired children.

Int J Audiol 2014 Jul 10;53(7):446-51. Epub 2014 Mar 10.

* Department of Otorhinolaryngology, Oulu University Hospital , Oulu , Finland.

View Article

Download full-text PDF

Source
http://www.tandfonline.com/doi/full/10.3109/14992027.2014.88
Publisher Site
http://dx.doi.org/10.3109/14992027.2014.887230DOI Listing
July 2014

Novel mitofusin 2 splice-site mutation causes Charcot-Marie-Tooth disease type 2 with prominent sensory dysfunction.

Neuromuscul Disord 2014 Apr 27;24(4):360-4. Epub 2014 Jan 27.

University of Oulu and Oulu University Hospital, Department of Clinical Medicine, Neurology, Medical Research Center Oulu, Oulu, Finland.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09608966140002
Publisher Site
http://dx.doi.org/10.1016/j.nmd.2014.01.007DOI Listing
April 2014

Novel GJB1 mutation causing adult-onset Charcot-Marie-Tooth disease in a female patient.

Neuromuscul Disord 2013 Nov 6;23(11):899-901. Epub 2013 Jul 6.

University of Turku and Turku University Hospital, Division of Clinical Neurosciences, Turku, Finland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2013.06.004DOI Listing
November 2013

New treatments for mitochondrial disease-no time to drop our standards.

Nat Rev Neurol 2013 Aug 2;9(8):474-81. Epub 2013 Jul 2.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Ageing and Health, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrneurol.2013.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4967498PMC
August 2013

Impaired information-processing speed and working memory in leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) and DARS2 mutations: a report of three adult patients.

J Neurol 2013 Aug 8;260(8):2078-83. Epub 2013 May 8.

Division of Clinical Neurosciences, University of Turku and Turku University Hospital, Kiinamyllynkatu 4-8, 20520 Turku, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-013-6940-0DOI Listing
August 2013

Characterization of chronic subdural hematoma fluid proteome.

Neurosurgery 2013 Aug;73(2):317-31

‡Department of Clinical Medicine, Neurosurgery, University of Oulu, Oulu, Finland; §Department of Neurosurgery, Oulu University Hospital, Oulu, Finland; ¶Department of Clinical Medicine, Neurology, University of Oulu, Oulu, Finland; ‖Department of Neurology, Oulu University Hospital, Oulu, Finland; #Clinical Research Center, Oulu University Hospital, Oulu, Finland; **Proteomics Core Facility, Biocenter Oulu, Department of Biochemistry, University of Oulu, Oulu, Finland; ‡‡Department of Surgery and Department of Neurology, Seinäjoki Central Hospital, Seinäjoki, Finland.

View Article

Download full-text PDF

Source
https://academic.oup.com/neurosurgery/article-lookup/doi/10.
Publisher Site
http://dx.doi.org/10.1227/01.neu.0000430323.24623.deDOI Listing
August 2013

Characterization of chronic subdural hematoma fluid proteome.

Neurosurgery 2013 Aug;73(2):317-31

‡Department of Clinical Medicine, Neurosurgery, University of Oulu, Oulu, Finland; §Department of Neurosurgery, Oulu University Hospital, Oulu, Finland; ¶Department of Clinical Medicine, Neurology, University of Oulu, Oulu, Finland; ‖Department of Neurology, Oulu University Hospital, Oulu, Finland; #Clinical Research Center, Oulu University Hospital, Oulu, Finland; **Proteomics Core Facility, Biocenter Oulu, Department of Biochemistry, University of Oulu, Oulu, Finland; ‡‡Department of Surgery and Department of Neurology, Seinäjoki Central Hospital, Seinäjoki, Finland.

View Article

Download full-text PDF

Source
https://academic.oup.com/neurosurgery/article-lookup/doi/10.
Publisher Site
http://dx.doi.org/10.1227/01.neu.0000430323.24623.deDOI Listing
August 2013

Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA.

Mitochondrion 2013 Mar 7;13(2):83-6. Epub 2013 Feb 7.

University of Turku and Turku University Hospital, Division of Clinical Neurosciences, Turku, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2013.01.012DOI Listing
March 2013

Successful treatment of POLG-related mitochondrial epilepsy with antiepileptic drugs and low glycaemic index diet.

Epileptic Disord 2012 Dec;14(4):438-41

Department of Neurology, University of Turku, Turku.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/epd.2012.0543DOI Listing
December 2012

An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation.

Case Rep Neurol Med 2012 22;2012:615721. Epub 2012 Nov 22.

Department of Neurology, Oulu University Hospital, P.O. Box 20, 90029 Oulu, Finland ; Department of Clinical Medicine, Neurology, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland.

View Article

Download full-text PDF

Source
http://www.hindawi.com/journals/crinm/2012/615721/
Publisher Site
http://dx.doi.org/10.1155/2012/615721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3512220PMC
December 2012

Audiological follow-up of children with the m.1555A>G mutation in mitochondrial DNA.

Audiol Neurootol 2013 10;18(1):23-30. Epub 2012 Oct 10.

Department of Otorhinolaryngology, Oulu University Hospital, Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000342905DOI Listing
May 2013

Prevalence of the primary LHON mutations in Northern Finland associated with bilateral optic atrophy and tobacco-alcohol amblyopia.

Acta Ophthalmol 2013 Nov 12;91(7):630-4. Epub 2012 Sep 12.

Department of Ophthalmology, Institute of Clinical Medicine, University of Oulu and Clinical Research Center, Oulu University Hospital, Oulu, FinlandDepartment of Neurology, Institute of Clinical Medicine, University of Oulu and Clinical Research Center, Oulu University Hospital, Oulu, FinlandDepartment of Pediatrics, Institute of Clinical Medicine, University of Oulu and Clinical Research Center, Oulu University Hospital, Oulu, FinlandDepartment of Neurology, Institute of Clinical Medicine, University of Eastern, FinlandDepartment of Neurology, Kuopio University Hospital, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1755-3768.2012.02506.xDOI Listing
November 2013

Ear diseases and other risk factors for hearing impairment among adults: an epidemiological study.

Int J Audiol 2012 Nov 30;51(11):833-40. Epub 2012 Aug 30.

Department of Clinical Medicine, Otorhinolaryngology, University of Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/14992027.2012.707334DOI Listing
November 2012

Genome wide assessment of young onset Parkinson's disease from Finland.

PLoS One 2012 24;7(7):e41859. Epub 2012 Jul 24.

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0041859PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404082PMC
February 2013

Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.

Alzheimer Dis Assoc Disord 2014 Apr-Jun;28(2):190-3

Departments of *Neurology ‡Ophthalmology, Institute of Clinical Medicine, University of Oulu †Clinical Research Center, Oulu University Hospital, Oulu, Finland §Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD ∥Department of Neurology, Institute of Clinical Medicine, University of Eastern Finland ¶Department of Neurology, Kuopio University Hospital, Kuopio, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/WAD.0b013e318266fae5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511614PMC
January 2015

Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus.

BMC Res Notes 2012 Jul 10;5:350. Epub 2012 Jul 10.

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

View Article

Download full-text PDF

Source
http://bmcresnotes.biomedcentral.com/articles/10.1186/1756-0
Publisher Site
http://dx.doi.org/10.1186/1756-0500-5-350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3434112PMC
July 2012

Treatment for mitochondrial disorders.

Cochrane Database Syst Rev 2012 Apr 18(4):CD004426. Epub 2012 Apr 18.

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/14651858.CD004426.pub3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201312PMC
April 2012

Prevalence of mitochondrial diabetes in southwestern Finland: a molecular epidemiological study.

Acta Diabetol 2013 Oct 11;50(5):737-41. Epub 2012 Apr 11.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00592-012-0393-2DOI Listing
October 2013

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.

View Article

Download full-text PDF

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

A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease.

J Neurol 2012 Aug 6;259(8):1585-9. Epub 2012 Jan 6.

Department of Clinical Medicine, Neurology, University of Oulu, P.O. Box 5000, 90014 Oulu, Finland.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00415-011-6382-5
Publisher Site
http://dx.doi.org/10.1007/s00415-011-6382-5DOI Listing
August 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.

View Article

Download full-text PDF

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

Self-reported hearing problems among older adults: prevalence and comparison to measured hearing impairment.

J Am Acad Audiol 2011 Sep;22(8):550-9

Department of Clinical Medicine, Otorhinolaryngology, University of Oulu, Oulu, Finland.

View Article

Download full-text PDF

Source
http://openurl.ingenta.com/content/xref?genre=article&is
Publisher Site
http://dx.doi.org/10.3766/jaaa.22.8.7DOI Listing
September 2011

Audiogram configurations among older adults: prevalence and relation to self-reported hearing problems.

Int J Audiol 2011 Nov 15;50(11):793-801. Epub 2011 Sep 15.

Department of Clinical Medicine, Otorhinolaryngology, University of Oulu, Finland.

View Article

Download full-text PDF

Source
http://www.tandfonline.com/doi/full/10.3109/14992027.2011.59
Publisher Site
http://dx.doi.org/10.3109/14992027.2011.593562DOI Listing
November 2011

Mitochondrial diabetes is associated with insulin resistance in subcutaneous adipose tissue but not with increased liver fat content.

J Inherit Metab Dis 2011 Dec 10;34(6):1205-12. Epub 2011 May 10.

Turku PET Centre, University of Turku and Turku University Hospital, P.O. Box 52, FIN-20521, Turku, Finland.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1007/s10545-011-9338-0
Publisher Site
http://dx.doi.org/10.1007/s10545-011-9338-0DOI Listing
December 2011

Hearing in a 54- to 66-year-old population in northern Finland.

Int J Audiol 2010 Dec 14;49(12):920-7. Epub 2010 Sep 14.

Department of Clinical Medicine, Otorhinolaryngology, University of Oulu, Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/14992027.2010.510146DOI Listing
December 2010

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Craniofacial morphology in children of mothers with the m.3243A>G mutation in mitochondrial DNA.

Cleft Palate Craniofac J 2010 May;47(3):234-40

Institute of Dentistry, University of Oulu, Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1597/08-131.1DOI Listing
May 2010

Cerebral oxygen and glucose metabolism in patients with mitochondrial m.3243A>G mutation.

Brain 2009 Dec;132(Pt 12):3274-84

Turku PET Centre, University of Turku and Turku University Hospital, Turku, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awp259DOI Listing
December 2009

Epidemiology and characteristics of occipital brain infarcts in young adults in southwestern Finland.

J Neurol 2010 Feb;257(2):259-63

Department of Neurology, Turku University Hospital, University of Turku, 20014 Turku, Finland.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00415-009-5305-1
Publisher Site
http://dx.doi.org/10.1007/s00415-009-5305-1DOI Listing
February 2010

Procollagen propeptides in chronic subdural hematoma reveal sustained dural collagen synthesis after head injury.

J Neurol 2009 Jan 9;256(1):66-71. Epub 2009 Feb 9.

Dept. of Neurosurgery, Oulu University Hospital, Kajaanintie 50, 90220 Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-009-0048-6DOI Listing
January 2009

Expression of collagen XVII and ubiquitin-binding protein p62 in motor neuron disease.

Brain Res 2009 Jan 1;1247:171-7. Epub 2008 Nov 1.

Department of Clinical Medicine, Neurology, University of Kuopio, FIN-70211 Kuopio, Finland.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S000689930802510
Publisher Site
http://dx.doi.org/10.1016/j.brainres.2008.10.020DOI Listing
January 2009

Distribution of collagen XVII in the human brain.

Brain Res 2007 Jul 6;1158:50-6. Epub 2007 May 6.

Department of Clinical Medicine, Neurology, University of Kuopio, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.brainres.2007.04.073DOI Listing
July 2007

Proteome and cytoskeleton responses in osteosarcoma cells with reduced OXPHOS activity.

Proteomics 2007 Jun;7(13):2189-200

Department of Neurology, University of Oulu, Oulu, Finland.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pmic.200601031
Publisher Site
http://dx.doi.org/10.1002/pmic.200601031DOI Listing
June 2007

Cytoskeletal structure in cells harboring two mutations: R133C in NOTCH3 and 5650G>A in mitochondrial DNA.

Mitochondrion 2007 Feb-Apr;7(1-2):96-100. Epub 2006 Dec 5.

Department of Neurology, University of Oulu, FIN-90014 Oulu, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mito.2006.11.004DOI Listing
July 2007

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.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192060028
Publisher Site
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.

View Article

Download full-text PDF

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

Collagen XVII is expressed in human CNS neurons.

Matrix Biol 2006 Apr 4;25(3):185-8. Epub 2006 Jan 4.

Department of Neurology, University of Oulu and Clinical Research Center, Oulu University Hospital, FIN-90014 Oulu, Finland.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S0945053X0500152
Publisher Site
http://dx.doi.org/10.1016/j.matbio.2005.11.004DOI Listing
April 2006

Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1).

Pediatr Nephrol 2006 Feb 17;21(2):182-9. Epub 2005 Dec 17.

Department of Pediatric Nephrology and Transplantation, Hospital for Children and Adolescents, University of Helsinki, Stenbäckinkatu 11, 00290 Helsinki, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00467-005-2116-1DOI Listing
February 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.

View Article

Download full-text PDF

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

Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.

Ann Neurol 2005 Aug;58(2):337-40

Department of Physical Medicine and Rehabilitation, Seinäjoki Central Hospital, Seinäjoki, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.20555DOI Listing
August 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.

View Article

Download full-text PDF

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

Sequence variation in the tRNA genes of human mitochondrial DNA.

J Mol Evol 2005 May;60(5):587-97

Department of Neurology, University of Oulu, Finland.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00239-003-0202-1
Publisher Site
http://dx.doi.org/10.1007/s00239-003-0202-1DOI Listing
May 2005