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Pirjo Isohanni

  • Finland

1990 …2019
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Publications 1990 2019

2019

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

Jokela, M., Tasca, G., Vihola, A., Mercuri, E., Jonson, P-H., Lehtinen, S., Välipakka, S., Pane, M., Donati, M., Johari, M., Savarese, M., Huovinen, S., Isohanni, P., Palmio, J., Hartikainen, P. & Udd, B., 2 Apr 2019, In : Neurology. 92, 14, p. E1600-E1609 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Veltto imeväinen

Seppä-Moilanen, M., Isohanni, P. & Lönnqvist, T., 2019, In : Duodecim. 135, 4, p. 359-366 8 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

2018

A complex genomic locus drives mtDNA replicase POLG expression to its disease-related nervous system regions

Nikkanen, J., Landoni, J. C., Balboa, D., Haugas, M., Partanen, J., Paetau, A., Isohanni, P., Brilhante, V. & Suomalainen, A., Jan 2018, In : EMBO molecular medicine. 10, 1, p. 13-21 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease

Bruni, F., Di Meo, I., Bellacchio, E., Webb, B. D., McFarland, R., Chrzanowska-Lightowlers, Z. M. A., He, L., Skorupa, E., Moroni, I., Ardissone, A., Walczak, A., Tyynismaa, H., Isohanni, P., Mandel, H., Prokisch, H., Haack, T., Bonnen, P. E., Enrico, B., Pronicka, E., Ghezzi, D. & 2 others, Taylor, R. W. & Diodato, D., Apr 2018, In : Human Mutation. 39, 4, p. 563-578 16 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Isohanni, P., Carroll, C. J., Jackson, C. B., Pohjanpelto, M., Lonnqvist, T. & Suomalainen, A., Jan 2018, In : Neurogenetics. 19, 1, p. 49-53 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications

Hikmat, O., Naess, K., Engvall, M., Klingenberg, C., Rasmussen, M., Tallaksen, C. M. E., Brodtkorb, E., Fiskerstrand, T., Isohanni, P., Uusimaa, J., Darin, N., Rahman, S. & Bindoff, L. A., Aug 2018, In : Epilepsia. 59, 8, p. 1595-1602 8 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Sofou, K., de Coo, I. F. M., Ostergaard, E., Isohanni, P., Naess, K., De Meirleir, L., Tzoulis, C., Uusimaa, J., Lönnqvist, T., Bindoff, L. A., Tulinius, M. & Darin, N., Jan 2018, In : Journal of Medical Genetics. 55, 1, p. 21-27 7 p.

Research output: Contribution to journalArticleScientificpeer-review

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Reijnders, M. R. F., Janowski, R., Alvi, M., Self, J. E., van Essen, T. J., Vreeburg, M., Rouhl, R. P. W., Stevens, S. J. C., Stegmann, A. P. A., Schieving, J., Pfundt, R., van Dijk, K., Smeets, E., Stumpel, C. T. R. M., Bok, L. A., Cobben, J. M., Engelen, M., Mansour, S., Whiteford, M., Chandler, K. E. & 31 others, Douzgou, S., Cooper, N. S., Tan, E-C., Foo, R., Lai, A. H. M., Rankin, J., Green, A., Lönnqvist, T., Isohanni, P., Williams, S., Ruhoy, I., Carvalho, K. S., Dowling, J. J., Lev, D. L., Sterbova, K., Lassuthova, P., Neupauerova, J., Waugh, J. L., Keros, S., Clayton-Smith, J., Smithson, S. F., Brunner, H. G., van Hoeckel, C., Anderson, M., Clowes, V. E., Siu, V. M., Selber, P., Leventer, R. J., Nellaker, C., Niessing, D. & DDD Study, Feb 2018, In : Journal of Medical Genetics. 55, 2, p. 104-113 10 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

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

Isohanni, P., Carroll, C. J., Jackson, C. B., Pohjanpelto, M., Lönnqvist, T. & Suomalainen, A., May 2018, In : Neurogenetics. 19, 2, p. 133-134 2 p.

Research output: Contribution to journalLetterScientificpeer-review

Open Access
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Retrospective natural history of thymidine kinase 2 deficiency

Garone, C., Taylor, R. W., Nascimento, A., Poulton, J., Fratter, C., Dominguez-Gonzalez, C., Evans, J. C., Loos, M., Isohanni, P., Suomalainen, A., Ram, D., Hughes, M. I., McFarland, R., Barca, E., Gomez, C. L., Jayawant, S., Thomas, N. D., Manzur, A. Y., Kleinsteuber, K., Martin, M. A. & 23 others, Kerr, T., Gorman, G. S., Sommerville, E. W., Chinnery, P. F., Hofer, M., Karch, C., Ralph, J., Camara, Y., Madruga-Garrido, M., Dominguez-Carral, J., Ortez, C., Emperador, S., Montoya, J., Chakrapani, A., Kriger, J. F., Schoenaker, R., Levin, B., Thompson, J. L. P., Long, Y., Rahman, S., Donati, M. A., DiMauro, S. & Hirano, M., Aug 2018, In : Journal of Medical Genetics. 55, 8, p. 515-521 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2017

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

Vasilescu, C., Isohanni, P., Palomäki, M., Pihko, H., Suomalainen, A. & Carroll, C. J., Feb 2017, In : European Journal of Human Genetics. 25, 3, p. 366-370 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

Cooper, H. M., Yang, Y., Ylikallio, E., Khairullin, R., Woldegebriel, R., Lin, K-L., Euro, L., Palin, E., Wolf, A., Trokovic, R., Isohanni, P., Kaakkola, S., Auranen, M., Lonnqvist, T., Wanrooij, S. & Tyynismaa, H., 15 Apr 2017, In : Human Molecular Genetics. 26, 8, p. 1432-1443 12 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome

Matilainen, S., Carroll, C. J., Richter, U., Euro, L., Pohjanpelto, M., Paetau, A., Isohanni, P. & Suomalainen, A., 1 Sep 2017, In : Human Molecular Genetics. 26, 17, p. 3352-3361 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Ylikallio, E., Woldegebriel, R., Tumiati, M., Isohanni, P., Ryan, M. M., Stark, Z., Walsh, M., Sawyer, S. L., Bell, K. M., Oshlack, A., Lockhart, P. J., Shcherbii, M., Estrada-Cuzcano, A., Atkinson, D., Hartley, T., Tetreault, M., Cuppen, I., van der Pol, W. L., Candayan, A., Battaloglu, E. & 8 others, Parman, Y., van Gassen, K. L. I., van den Boogaard, M-J. H., Boycott, K. M., Kauppi, L., Jordanova, A., Lonnqvist, T. & Tyynismaa, H., Aug 2017, In : Brain : a journal of neurology. 140, p. 2093-2103 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

Thi Tuyet Mai Nguyen, Murakami, Y., Sheridan, E., Ehresmann, S., Rousseau, J., St-Denis, A., Chai, G., Ajeawung, N. F., Fairbrother, L., Reimschisel, T., Bateman, A., Berry-Kravis, E., Xia, F., Tardif, J., Parry, D. A., Logan, C. V., Diggle, C., Bennett, C. P., Hattingh, L., Rosenfeld, J. A. & 12 others, Perry, M. S., Parker, M. J., Le Deist, F., Zaki, M. S., Ignatius, E., Isohanni, P., Lonnqvist, T., Carroll, C. J., Johnson, C. A., Gleeson, J. G., Kinoshita, T. & Campeau, P. M., 2 Nov 2017, In : American Journal of Human Genetics. 101, 5, p. 856-865 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

Maas, R. R., Iwanicka-Pronicka, K., Ucar, S. K., Alhaddad, B., AlSayed, M., Al-Owain, M. A., Al-Zaidan, H. I., Balasubramaniam, S., Baric, I., Bubshait, D. K., Burlina, A., Christodoulou, J., Chung, W. K., Colombo, R., Darin, N., Freisinger, P., Garcia Silva, M. T., Grunewald, S., Haack, T. B., van Hasselt, P. M. & 38 others, Hikmat, O., Hoerster, F., Isohanni, P., Ramzan, K., Kovacs-Nagy, R., Krumina, Z., Martin-Hernandez, E., Mayr, J. A., McClean, P., De Meirleir, L., Naess, K., Ngu, L. H., Pajdowska, M., Rahman, S., Riordan, G., Riley, L., Roeben, B., Rutsch, F., Santer, R., Schiff, M., Seders, M., Sequeira, S., Sperl, W., Staufner, C., Synofzik, M., Taylor, R. W., Trubicka, J., Tsiakas, K., Unal, O., Wassmer, E., Wedatilake, Y., Wolff, T., Prokisch, H., Morava, E., Pronicka, E., Wevers, R. A., de Brouwer, A. P. & Wortmann, S. B., Dec 2017, In : Annals of Neurology. 82, 6, p. 1004-1015 12 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
2016

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Haack, T. B., Ignatius, E., Calvo-Garrido, J., Iuso, A., Isohanni, P., Maffezzini, C., Lönnqvist, T., Suomalainen, A., Gorza, M., Kremer, L. S., Graf, E., Hartig, M., Berutti, R., Paucar, M., Svenningsson, P., Stranneheim, H., Brandberg, G., Wedell, A., Kurian, M. A., Hayflick, S. A. & 13 others, Venco, P., Tiranti, V., Strom, T. M., Dichgans, M., Horvath, R., Holinski-Feder, E., Freyer, C., Meitinger, T., Prokisch, H., Senderek, J., Wredenberg, A., Carroll, C. J. & Klopstock, T., 2016, In : American Journal of Human Genetics. 99, 3, p. 735-743 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

Lehtonen, J. M., Forsstrom, S., Bottani, E., Viscomi, C., Baris, O. R., Isoniemi, H., Hockerstedt, K., Osterlund, P., Hurme, M., Jylhava, J., Leppa, S., Markkula, R., Helio, T., Mombelli, G., Uusimaa, J., Laaksonen, R., Laaksovirta, H., Auranen, M., Zeviani, M., Smeitink, J. & 4 others, Wiesner, R. J., Nakada, K., Isohanni, P. & Suomalainen, A., 29 Nov 2016, In : Neurology. 87, 22, p. 2290-2299 10 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Nikkanen, J., Forsstrom, S., Euro, L., Paetau, I., Kohnz, R. A., Wang, L., Chilov, D., Viinamaki, J., Roivainen, A., Marjamaki, P., Liljenback, H., Ahola, S., Buzkova, J., Terzioglu, M., Khan, N. A., Pirnes-Karhu, S., Paetau, A., Lonnqvist, T., Sajantila, A., Isohanni, P. & 6 others, Tyynismaa, H., Nomura, D. K., Battersby, B. J., Velagapudi, V., Carroll, C. J. & Suomalainen, A., 12 Apr 2016, In : Cell Metabolism. 23, 4, p. 635-648 14 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Mitokondriotaudit: Opas sairastuneille, heidän perheilleen sekä lääketieteen opiskelijoille ja ammattilaisille

Koene, S. (ed.), Smeitink, J. (ed.), Wartiovaara, A. (ed.) & Isohanni, P. (ed.), 2016, Toinen laitos, 1. suomenkielinen versio ed. Nijmegen, Alankomaat: Khondrion BV. 141 p.

Research output: Book/ReportBook

Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathypatients

Ahola, S., Auranen, M., Isohanni, P., Niemisalo, S., Urho, N., Buzkova, J., Velagapudi, V., Lundbom, N., Hakkarainen, A., Muurinen, T., Piirilä, P., Pietilainen, K. H. & Suomalainen, A., Nov 2016, In : EMBO molecular medicine. 8, 11, p. 1234-1247 14 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Myotonia lihaksen ionikanavataudeissa

Partanen, J., Isohanni, P. & Auranen, M., 2016, In : Duodecim. 132, 19, p. 1810-1814 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Thompson, K., Majd, H., Dallabona, C., Reinson, K., King, M. S., Alston, C. L., He, L., Lodi, T., Jones, S. A., Fattal-Valevski, A., Fraenkel, N. D., Saada, A., Haham, A., Isohanni, P., Vara, R., Barbosa, I. A., Simpson, M. A., Deshpande, C., Puusepp, S., Bonnen, P. E. & 8 others, Rodenburg, R. J., Suomalainen, A., Ounap, K., Elpeleg, O., Ferrero, I., McFarland, R., Kunji, E. R. S. & Taylor, R. W., 6 Oct 2016, In : American Journal of Human Genetics. 99, 4, p. 860-876 17 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Linnankivi, T., Neupane, N., Richter, U., Isohanni, P. & Tyynismaa, H., Sep 2016, In : Human Mutation. 37, 9, p. 884-888 5 p.

Research output: Contribution to journalArticleScientificpeer-review

2015

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

Ylikallio, E., Kim, D., Isohanni, P., Auranen, M., Kim, E., Lonnqvist, T. & Tyynismaa, H., Oct 2015, In : European Journal of Human Genetics. 23, 10, p. 1427-1430 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Leigh Syndrome: Neuropathology and Pathogenesis

Lake, N. J., Bird, M. J., Isohanni, P. & Paetau, A., Jun 2015, In : Journal of Neuropathology and Experimental Neurology. 74, 6, p. 482-492 11 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

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

Matilainen, S., Isohanni, P., Euro, L., Lonnqvist, T., Pihko, H., Kivela, T., Knuutila, S. & Suomalainen, A., Mar 2015, In : European Journal of Human Genetics. 23, 3, p. 325-330 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

Anttonen, A-K., Hilander, T., Linnankivi, T., Isohanni, P., French, R. L., Liu, Y., Simonovic, M., Soell, D., Somer, M., Muth-Pawlak, D., Corthals, G. L., Laari, A., Ylikallio, E., Lahde, M., Valanne, L., Lonnqvist, T., Pihko, H., Paetau, A., Lehesjoki, A-E., Suomalainen, A. & 1 others, Tyynismaa, H., 28 Jul 2015, In : Neurology. 85, 4, p. 306-315 10 p.

Research output: Contribution to journalArticleScientificpeer-review

2014

A multicenter study on Leigh syndrome: disease course and predictors of survival

Sofou, K., De Coo, I. F. M., Isohanni, P., Ostergaard, E., Naess, K., De Meirleir, L., Tzoulis, C., Uusimaa, J., De Angst, I. B., Lonnqvist, T., Pihko, H., Mankinen, K., Bindoff, L. A., Tulinius, M. & Darin, N., 15 Apr 2014, In : Orphanet journal of rare diseases. 9, 16 p., 52.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

van Berge, L., Hamilton, E. M., Linnankivi, T., Uziel, G., Steenweg, M. E., Isohanni, P., Wolf, N. I., Kraegeloh-Mann, I., Brautaset, N. J., Andrews, P. I., de Jong, B. A., al Ghamdi, M., van Wieringen, W. N., Tannous, B. A., Hulleman, E., Wuerdinger, T., van Berkel, C. G. M., Polder, E., Abbink, T. E. M., Struys, E. A. & 3 others, Scheper, G. C., van der Knaap, M. S. & LBSL Res Grp, Apr 2014, In : Brain : a journal of neurology. 137, p. 1019-1029 11 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Ahola, S., Isohanni, P., Euro, L., Brilhante, V., Palotie, A., Pihko, H., Lonnqvist, T., Lehtonen, T., Laine, J., Tyynismaa, H. & Suomalainen, A., 19 Aug 2014, In : Neurology. 83, 8, p. 743-751 9 p.

Research output: Contribution to journalArticleScientificpeer-review

2013

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

Wortmann, S. B., Kluijtmans, L. A. J., Rodenburg, R. J., Sass, J. O., Nouws, J., van Kaauwen, E. P., Kleefstra, T., Tranebjaerg, L., de Vries, M. C., Isohanni, P., Walter, K., Alkuraya, F. S., Smuts, I., Reinecke, C. J., van der Westhuizen, F. H., Thorburn, D., Smeitink, J. A. M., Morava, E. & Wevers, R. A., Nov 2013, In : Journal of Inherited Metabolic Disease. 36, 6, p. 913-921 9 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Carroll, C. J., Isohanni, P., Poyhonen, R., Euro, L., Richter, U., Brilhante, V., Gotz, A., Lahtinen, T., Paetau, A., Pihko, H., Battersby, B. J., Tyynismaa, H. & Suomalainen, A., Mar 2013, In : Journal of Medical Genetics. 50, 3, p. 151-159 9 p.

Research output: Contribution to journalArticleScientificpeer-review

2012

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

Götz, A., Isohanni, P., Liljestrom, B., Rummukainen, J., Nikolajev, K., Herrgard, E., Marjavaara, S. & Suomalainen, A., 2012, In : Pediatric Research. 72, 1, p. 90-94 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

Elo, J. M., Yadavalli, S. S., Euro, L., Isohanni, P., Götz, A., Carroll, C. J., Valanne, L., Alkuraya, F. S., Uusimaa, J., Paetau, A., Caruso, E. M., Pihko, H., Ibba, M., Tyynismaa, H. & Suomalainen, A., 15 Oct 2012, In : Human Molecular Genetics. 21, 20, p. 4521-4529 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

Tyynismaa, H., Sun, R., Ahola-Erkkila, S., Almusa, H., Poyhonen, R., Korpela, M. P., Honkaniemi, J., Isohanni, P., Paetau, A., Wang, L. & Suomalainen, A., 2012, In : Human Molecular Genetics. 21, 1, p. 66-75 10 p.

Research output: Contribution to journalArticleScientificpeer-review

2011

Dominant encephalopathy mimicking mitochondrial disease

Lönnqvist, T., Isohanni, P., Valanne, L., Olli-Lähdesmäki, T., Suomalainen Wartiovaara, A. & Pihko, H., 2011, In : Neurology. 76, 1, p. 101-103 3 p.

Research output: Contribution to journalArticleScientific

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

Suomalainen, A., Elo, J. M., Pietiläinen, K. H., Hakonen, A. H., Sevastianova, K., Korpela, M., Isohanni, P., Marjavaara, S. K., Tyni, T., Kiuru-Enari, S., Pihko, H., Darin, N., Ounap, K., Kluijtmans, L. A. J., Paetau, A., Buzkova, J., Bindoff, L. A., Annunen-Rasila, J., Uusimaa, J., Rissanen, A. & 5 others, Yki-Järvinen, H., Hirano, M., Tulinius, M., Smeitink, J. & Tyynismaa, H., 2011, In : Lancet Neurology. 10, 9, p. 806-818 13 p.

Research output: Contribution to journalArticleScientificpeer-review

POLG1 manifestations in childhood: A study of 136 children

Isohanni, P., Hakonen, A. H., Euro, L., Paetau, I., Linnankivi, T., Liukkonen, E., Wallden, T., Luostarinen, L., Valanne, L., Paetau, A., Uusimaa, J., Lönnqvist, T., Suomalainen, A. & Pihko, H., 2011, In : Neurology. 76, 9, p. 811-815 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Verikokeella testattava FGF21 on mitokondriotautien uusi merkkiaine

Suomalainen Wartiovaara, A., Elo, J., Pietiläinen, K. H., Hakonen, A. H., Sevastianova, K., Korpela, M. P., Isohanni, P., Marjavaara, S., Tyni, T., Kiuru-Enari, S. M. K., Pihko, H., Darin, N., Õunap, K., Kluijtmans, L. A. J., Paetau, A., Buzkova, J., Bindoff, L. A., Annunen-Rasila, J., Uusimaa, J., Rissanen, A. & 5 others, Yki-Järvinen, H., Hirano, M., Tulinius, M., Smeitink, J. A. & Tyynismaa, H., 2011, In : Duodecim. 127, 20, p. 2180 1 p.

Research output: Contribution to journalArticleProfessional

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis

Isohanni, P., Linnankivi, T., Buzkova, J., Lönnqvist, T., Pihko, H., Valanne, L., Tienari, P., Elovaara, I., Pirttilä, T., Reunanen, M., Koivisto, K., Marjavaara, S. & Suomalainen, A., 2010, In : Journal of Medical Genetics. 47, 1, p. 66-70 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Mitochondrial DNA depletion syndromes - Many genes, common mechanisms

Wartiovaara, A. & Isohanni, P., 2010, In : Neuromuscular Disorders. 20, 7, p. 429-437 9 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

Mitokondriaalinen resessiivinen ataksia-syndrooma ja valproaattihoidon toksisuus

Translated title of the contribution: Mitochondrial recessive ataxia syndrome (MIRAS) and valproate toxicityHakonen, A. H., Isohanni, P., Rantamäki, M., Kälviäinen, R., Nordin, A., Uusimaa, J., Paetau, A., Udd, B., Pihko, H. & Wartiovaara, A., 2010, In : Duodecim. 126, 13, p. 1552-1559 8 p.

Research output: Contribution to journalArticleProfessional

2009

POLG MUTATIONS CAUSE SEVERE EARLY ONSET EPILEPSY WITH LIVER FAILURE

Isohanni, P., Loennqvist, T., Linnankivi, T., Uusimaa, J., Harju, A., Paetau, A., Kalimo, H., Valanne, L., Suomalainen, A. & Pihko, H., 2009, In : Epilepsia. 50, Supplement s4, p. 117-117 1 p.

Research output: Contribution to journalConference articleScientific

2008

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

Götz, A., Isohanni, P., Pihko, H., Paetau, A., Herva, R., Saarenpaa-Heikkila, O., Valanne, L., Marjavaara, S. & Suomalainen Wartiovaara, A., 2008, In : Brain : a journal of neurology. 131, 11, p. 2841-2850 10 p.

Research output: Contribution to journalArticleScientificpeer-review

2007

Mitochondrial myopathy caused by thymidine kinase 2 (TK2) mutation mimics congenital muscular dystrophy

Isohanni, P., Marjavaara, S., Paetau, A., Herva, R., Suomalainen, A. & Pihko, H., 2007, In : Neuromuscular Disorders. 17, p. 770-770 1 p.

Research output: Contribution to journalArticleScientificpeer-review

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion

Hakonen, A. H., Isohanni, P., Paetau, A., Herva, R., Suomalainen, A. & Lönnqvist, T., 2007, In : Brain : a journal of neurology. 130, 11, p. 3032-3040 9 p.

Research output: Contribution to journalArticleScientificpeer-review

2005

A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma

Hienonen, T., Sammalkorpi, H., Isohanni, P., Versteeg, R., Karikoski, R. & Aaltonen, L. A., 2005, In : Journal of Medical Genetics. 42, 1, p. e3 6 p.

Research output: Contribution to journalArticleScientificpeer-review

1990

UNCONSCIOUSNESS ASSOCIATED WITH MIDAZOLAM AND ERYTHROMYCIN

HILLER, A., OLKKOLA, K. T., ISOHANNI, P. & SAARNIVAARA, L., 1990, In : British Journal of Anaesthesia. 65, p. 826-828 3 p.

Research output: Contribution to journalArticleScientificpeer-review