Pirjo Isohanni

Pirjo Isohanni

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Pirjo Isohanni

Pirjo Isohanni

Publications by authors named "Pirjo Isohanni"

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41Publications

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An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy.

Neurology 2019 04 6;92(14):e1600-e1609. Epub 2019 Mar 6.

From the Neuromuscular Research Center (M. Jokela, S.L., J.P., B.U.), Department of Neurology, University Hospital and University of Tampere; Division of Clinical Neurosciences (M. Jokela), Department of Neurology, Turku University Hospital and University of Turku; Kiinamyllynkatu 4-8 (M. Jokela), Turku, Finland; Unità Operativa Complessa di Neurologia (G.T.), Dipartimento di Scienze dell'Invecchiamento, Neurologiche, Ortopediche e della Testa-Collo, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Folkhälsan Institute of Genetics and Department of Medical Genetics (A.V., P.-H.J., S.V., M. Johari, M.S.), Haartman Institute, University of Helsinki, Finland; Institute of Pediatric Neurology (E.M., M.P.), Catholic University School of Medicine, Rome, Italy; Department of Pathology (S.H.), Fimlab Laboratories, Tampere University Hospital, Finland; Metabolic and Neuromuscular Unit (M.D.), Meyer Hospital, Florence, Italy; Department of Pediatric Neurology (P.I.), Children's Hospital, University of Helsinki and Helsinki University Hospital; Department of Neurology (P.H.), Kuopio University Hospital and University of Eastern Finland; and Department of Neurology (B.U.), Vasa Central Hospital, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000007246DOI Listing
April 2019

Reply to 'Letter to Editor by Finsterer J and Zarrouk-Mahjoub S: Phenotypic manifestations of the m.8969G>A variant'.

Neurogenetics 2018 05 26;19(2):133-134. Epub 2018 Feb 26.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1007/s10048-018-0542-zDOI Listing
May 2018

Myotonia in ion channel diseases of muscle.

Duodecim 2016;132(19):1810-4

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January 2018

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.

J Med Genet 2018 01 3;55(1):21-27. Epub 2017 Nov 3.

Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1136/jmedgenet-2017-104891DOI Listing
January 2018

Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.

Neurogenetics 2018 01 19;19(1):49-53. Epub 2018 Jan 19.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1007/s10048-018-0537-9DOI Listing
January 2018

Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome.

Hum Mol Genet 2017 09;26(17):3352-3361

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki 00290, Finland.

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http://dx.doi.org/10.1093/hmg/ddx221DOI Listing
September 2017

Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy.

Eur J Hum Genet 2017 02 21;25(3):366-370. Epub 2016 Dec 21.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/ejhg.2016.189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5315520PMC
February 2017

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders.

Neurology 2016 Nov 28;87(22):2290-2299. Epub 2016 Oct 28.

From the Research Programs Unit, Molecular Neurology (J.M.L., S.F., H.L., M.A., P.I.), Faculty of Medicine/Clinicum, Oncology (P.O.), and Finland Genome Scale Biology Program (S.L.), University of Helsinki, Finland; Mitochondrial Medicine Group (E.B., C.V., M.Z.), Medical Research Council Mitochondrial Biology Unit, Cambridge, UK; Center for Physiology and Pathophysiology (O.R.B., R.J.W.), Institute of Vegetative Physiology, University of Köln, Germany; Transplantation and Liver Surgery Clinic (H.I., K.H.), Department of Oncology (P.O., S.L.), and Heart and Lung Center, Department of Cardiology (T.H.), Helsinki University Hospital; School of Medicine (M.H., J.J., R.L.), University of Tampere; Anaesthesiology, Intensive Care and Pain Medicine (R.M.), Clinical Neurosciences, Neurology (H.L., M.A., A.S.), and Child Neurology, Children's Hospital (P.I.), University of Helsinki and Helsinki University Hospital, Finland; Dyslipidemia Center (G.M.), Cardiotoracovascular Department, Niguarda Hospital, Milan, Italy; PEDEGO Research Unit (J.U.) and Biocenter Oulu (J.U.), University of Oulu; Finnish Clinical Biobank Tampere (R.L.), Tampere University Hospital, Finland; Nijmegen Centre for Mitochondrial Disorders (J.S.), Radboud University Medical Centre, Nijmegen, the Netherlands; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) (R.J.W.), Köln; Center for Molecular Medicine Cologne (R.J.W.), CMMC, University of Köln, Germany; Faculty of Life and Environmental Sciences (K.N.), University of Tsukuba, Japan; and Medical Research Center Oulu (J.U.), Oulu University Hospital and University of Oulu, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000003374DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5270510PMC
November 2016

Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome.

Hum Mutat 2016 09 27;37(9):884-8. Epub 2016 Jun 27.

Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/humu.23021DOI Listing
September 2016

Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism.

Cell Metab 2016 Apr 25;23(4):635-48. Epub 2016 Feb 25.

Research Programs Unit, Molecular Neurology, University of Helsinki, 00290 Helsinki, Finland; Department of Neurology, University of Helsinki, Helsinki University Hospital, 00290 Helsinki, Finland; Neuroscience Center, University of Helsinki, 00790 Helsinki, Finland. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2016.01.019DOI Listing
April 2016

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.

Eur J Hum Genet 2015 Oct 14;23(10):1427-30. Epub 2015 Jan 14.

Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://www.nature.com/articles/ejhg2014297
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http://dx.doi.org/10.1038/ejhg.2014.297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592090PMC
October 2015

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate.

Neurology 2015 Jul 26;85(4):306-15. Epub 2015 Jun 26.

From the Department of Medical Genetics, Haartman Institute (A.-K.A., H.T.), Folkhälsan Institute of Genetics and Neuroscience Center (A.-K.A., A.L., A.-E.L.), Research Programs Unit, Molecular Neurology, Biomedicum Helsinki (T.H., P.I., A.L., E.Y., A.-E.L.), University of Helsinki; Departments of Clinical Genetics (A.-K.A.) and Neurology (A.S.), Helsinki University Central Hospital; Department of Pediatric Neurology (T. Linnankivi, P.I., T. Lönnqvist, H.P.), Children's Hospital, University of Helsinki and Helsinki University Central Hospital, Finland; Department of Biochemistry and Molecular Genetics (R.L.F., M. Simonović), University of Illinois at Chicago; Department of Molecular Biophysics and Biochemistry (Y.L., D.S.), Yale University, New Haven, CT; Norio Centre (M. Somer), Department of Medical Genetics, Helsinki, Finland; Turku Centre for Biotechnology (D.M.-P., G.L.C.), University of Turku and Åbo Akademi University; Department of Pediatric Neurology (M.L.), South Karelia Central Hospital, Lappeenranta; Department of Radiology (L.V.), HUS Medical Imaging Center, Helsinki; and Department of Pathology (A.P.), HUSLAB and University of Helsinki, Finland. G.L.C. is currently affiliated with Van't Hoff Institute for Molecular Sciences, University of Amsterdam, the Netherlands.

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http://www.neurology.org/content/85/4/306.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000178
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000001787DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520820PMC
July 2015

Leigh syndrome: neuropathology and pathogenesis.

J Neuropathol Exp Neurol 2015 Jun;74(6):482-92

From the Murdoch Children's Research Institute, The Royal Children's Hospital (NJL, MJB); and Department of Paediatrics (NJL, MJB) and Center for Neural Engineering, Department of Electrical and Electronic Engineering (MJB), The University of Melbourne, Melbourne, Victoria, Australia; Research Programs Unit, Molecular Neurology Biomedicum-Helsinki (PI), University of Helsinki; and Department of Child Neurology (PI), Children's Hospital, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland; and Department of Pathology, HUSLAB (AP), Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1097/NEN.0000000000000195DOI Listing
June 2015

Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.

Eur J Hum Genet 2015 Mar 2;23(3):325-30. Epub 2014 Jul 2.

1] Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland [2] Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland [3] Neuroscience center, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1038/ejhg.2014.128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326715PMC
March 2015

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.

Neurology 2014 Aug 18;83(8):743-51. Epub 2014 Jul 18.

From the Research Programs Unit, Molecular Neurology, Biomedicum Helsinki (S.A., P.I., L.E., V.B., H.T., A.S.), Institute for Molecular Medicine Finland (A.P.), Department of Medical Genetics, Haartman Institute (H.T.), and Neuroscience Center (A.S.), University of Helsinki; Department of Child Neurology, Children's Hospital (P.I., H.P., T. Lönnqvist), and Department of Neurology (A.S.), Helsinki University Central Hospital, Finland; Analytic and Translational Genetics Unit, Department of Medicine (A.P.), and Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry (A.P.), Massachusetts General Hospital, Boston; Program in Medical and Population Genetics (A.P.), Broad Institute of MIT and Harvard, Cambridge, MA; and Department of Pathology (T. Lehtonen, J.L.), University of Turku, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000000716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150129PMC
August 2014

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

J Inherit Metab Dis 2013 Nov 25;36(6):913-21. Epub 2013 Jan 25.

Nijmegen Center for Mitochondrial Disorders (NCMD) at the Department of Pediatrics and the Institute of Genetic and Metabolic Disease (IGMD), Radboud University Medical Centre, P.O Box 9101, 6500 HB, Nijmegen, The Netherlands,

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http://doi.wiley.com/10.1007/s10545-012-9579-6
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http://dx.doi.org/10.1007/s10545-012-9579-6DOI Listing
November 2013

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.

J Med Genet 2013 Mar 12;50(3):151-9. Epub 2013 Jan 12.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, r.C523B, Haartmaninkatu 8, Helsinki 00290, Finland.

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http://dx.doi.org/10.1136/jmedgenet-2012-101375DOI Listing
March 2013

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.

Hum Mol Genet 2012 Oct 23;21(20):4521-9. Epub 2012 Jul 23.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, 00290 Helsinki, Finland.

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http://dx.doi.org/10.1093/hmg/dds294DOI Listing
October 2012

Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation.

Pediatr Res 2012 Jul 27;72(1):90-4. Epub 2012 Mar 27.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.

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http://www.nature.com/articles/pr201243
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http://dx.doi.org/10.1038/pr.2012.43DOI Listing
July 2012

[Mitochondrial recessive ataxia syndrome (MIRAS) and valproate toxicity].

Duodecim 2010 ;126(13):1552-9

Helsingin yliopisto, Biomedicum, molekyylineurologian tutkimusohjelma.

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September 2010

Mitochondrial DNA depletion syndromes--many genes, common mechanisms.

Neuromuscul Disord 2010 Jul 4;20(7):429-37. Epub 2010 May 4.

Research Program of Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.nmd.2010.03.017DOI Listing
July 2010

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.

Brain 2008 Nov 26;131(Pt 11):2841-50. Epub 2008 Sep 26.

Research Programme of Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.

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https://academic.oup.com/brain/article-lookup/doi/10.1093/br
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http://dx.doi.org/10.1093/brain/awn236DOI Listing
November 2008

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

Brain 2007 Nov 5;130(Pt 11):3032-40. Epub 2007 Oct 5.

Research Program of Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Finland.

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http://dx.doi.org/10.1093/brain/awm242DOI Listing
November 2007