Photo of Henna Tyynismaa

Henna Tyynismaa

dosentti, associate professor (tenure track)

  • PL 63 (Haartmaninkatu 8)

    00014

    Finland

19992020

Research output per year

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Publications

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome

Nevanlinna, V., Konovalova, S., Ceulemans, B., Muona, M., Laari, A., Hilander, T., Gorski, K., Valanne, L., Anttonen, A-K., Tyynismaa, H., Carolina, C. & Anna-Elina, L., Mar 2020, In : European Journal of Medical Genetics. 63, 3, 7 p., 103766.

Research output: Contribution to journalArticleScientificpeer-review

Attitudes towards genetic testing and information: does parenthood shape the views?

Saastamoinen, A., Hyttinen, V., Kortelainen, M., Aaltio, J., Auranen, M., Ylikallio, E., Lönnqvist, T., Sainio, M., Suomalainen, A., Tyynismaa, H. & Isohanni, P., 4 Apr 2020, In : Journal of Community Genetics. 11, p. pages461–473 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

Woldegebriel, R., Kvist, J., Andersson, N., Ounap, K., Reinson, K., Wojcik, M. H., Bijlsma, E. K., Hoffer, M. J., Ryan, M. M., Stark, Z., Walsh, M., Cuppen, I., van den Boogaard, M-J. H., Bharucha-Goebel, D., Donkervoort, S., Winchester, S., Zori, R., Bonnemann, C. G., Maroofian, R., O'Connor, E. & 8 others, Houlden, H., Zhao, F., Carpen, O., White, M., Sreedharan, J., Stewart, M., Ylikallio, E. & Tyynismaa, H., 1 May 2020, In : Human Molecular Genetics. 29, 9, p. 1426-1439 14 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease

Rönkkö, J., Molchanova, S., Revah-Politi, A., Pereira, E. M., Auranen, M., Toppila, J., Kvist, J., Ludwig, A., Neumann, J., Bultynck, G., Humblet-Baron, S., Liston, A., Paetau, A., Rivera, C., Harms, M. B., Tyynismaa, H. & Ylikallio, E., 19 Sep 2020, In : Annals of Clinical and Translational Neurology. 7, 10, p. 1962-1972 11 p.

Research output: Contribution to journalArticleScientificpeer-review

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Metaboliset muutokset verkkokalvosairaudessa: Uusi tutkimus sfingolipidisynteesistä tuo mahdollisuuksia täsmähoitoihin

Tyynismaa, H. & Turunen, J. A., 2020, In : Duodecim. 136, 15, p. 1629-1630 2 p.

Research output: Contribution to journalEditorialProfessional

2019

A Metabolic Vulnerability of Vision

Tyynismaa, H., 10 Oct 2019, In : New England Journal of Medicine. 381, 15, p. 1474-1476 3 p.

Research output: Contribution to journalEditorialScientificpeer-review

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

Sommerville, E. W., Zhou, X-L., Olahova, M., Jenkins, J., Euro, L., Konovalova, S., Hilander, T., Pyle, A., He, L., Habeebu, S., Saunders, C., Kelsey, A., Morris, A. A. M., McFarland, R., Suomalainen, A., Gorman, G. S., Wang, E-D., Thiffault, I., Tyynismaa, H. & Taylor, R. W., 15 Jan 2019, In : Human Molecular Genetics. 28, 2, p. 258-268 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy

Samuelsson, K., Radovic, A., Press, R., Auranen, M., Ylikallio, E., Tyynismaa, H., Kärppä, M., Veteläinen, M., Peltola, N., Mellgren, S. I., Mygland, Å., Tallaksen, C., Andersen, H., Terkelsen, A. J., Fontain, F. & Hietaharju, A., Mar 2019, In : Muscle & Nerve. 59, 3, p. 354-357 4 p.

Research output: Contribution to journalArticleScientificpeer-review

TRIM2, a novel member of the antiviral family, limits New World arenavirus entry

Sarute, N., Ibrahim, N., Fagla, B. M., Lavanya, M., Cuevas, C., Stavrou, S., Otkiran-Clare, G., Tyynismaa, H., Henao-Mejia, J. & Ross, S. R., Feb 2019, In : PLoS Biology. 17, 2, 26 p., 3000137.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2018

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy

Sainio, M. T., Ylikallio, E., Mäenpää, L., Lahtela, J. S. P., Mattila, P. M., Auranen, M., Palmio, J. & Tyynismaa, H., 5 Jun 2018, In : Neurology Genetics. 4, 3, 10 p., e244.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Analysis of Mitochondrial Protein Synthesis: De Novo Translation, Steady‐State Levels, and Assembled OXPHOS Complexes

Hilander, T., Konovalova, S., Terzioglu, M. & Tyynismaa, H., 31 Jul 2018, In : Current Protocols in Toxicology. 77, 1, e56.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

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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Editing activity for eliminating mischarged tRNAs is essential in mammalian mitochondria

Hilander, T., Zhou, X-L., Konovalova, S., Zhang, F-P., Euro, L., Shilov, D., Poutanen, M., Chihade, J., Wang, E-D. & Tyynismaa, H., 25 Jan 2018, In : Nucleic Acids Research. 46, 2, p. 849–860 12 p.

Research output: Contribution to journalArticleScientificpeer-review

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Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

Genin, E. C., Bannwarth, S., Lespinasse, F., Ortega-Vila, B., Fragaki, K., Itoh, K., Villa, E., Lacas-Gervais, S., Jokela, M., Auranen, M., Ylikallio, E., Mauri-Crouzet, A., Tyynismaa, H., Vihola, A., Auge, G., Cochaud, C., Sesaki, H., Ricci, J-E., Udd, B., Vives-Bauza, C. & 1 others, Paquis-Flucklinger, V., Nov 2018, In : Neurobiology of Disease. 119, p. 159-171 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Perinnöllinen neuropatia ja spastinen parapareesi

Ylikallio, E., Tyynismaa, H. & Auranen, M., 2018, In : Duodecim. 134, 15, p. 1484-1492 9 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

Open Access
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Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

Sainio, M. T., Välipakka, S., Rinaldi, B., Lapatto, H., Paetau, A., Ojanen, S., Brilhante, V., Jokela, M., Huovinen, S., Auranen, M., Palmio, J., Friant, S., Ylikallio, E., Udd, B. & Tyynismaa, H., 4 Dec 2018, In : Journal of Neurology. p. 353-360 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Redox regulation of GRPEL2 nucleotide exchange factor for mitochondrial HSP70 chaperone

Konovalova, S., Liu, X., Manjunath, P., Baral, S., Neupane, N., Hilander, T., Yang, Y., Balboa, D., Terzioglu, M., Euro, L., Varjosalo, M. & Tyynismaa, H., Oct 2018, In : Redox biology. 19, p. 37-45 9 p.

Research output: Contribution to journalArticleScientificpeer-review

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2017

ABCD1-geenin mutaatiosta johtuva adrenomyeloneuropatia spastisen parapareesin taustatekijänä

Ylikallio, E., Rahikkala, E., Keski-Filppula, R., Auranen, M. & Tyynismaa, H., 2017, In : Duodecim. 133, 7, p. 683-687 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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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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CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients.

Penttilä, S., Jokela, M., Saukkonen, A. M., Toivanen, J., Palmio, J., Lähdesmäki, J., Sandell, S., Shcherbii, M., Auranen, M., Ylikallio, E., Tyynismaa, H. & Udd, B., 2017, In : Journal of Neurology, Neurosurgery and Psychiatry. 88, 3, p. 272-277

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C

Auranen, M., Toppila, J., Suriyanarayanan, S., Lone, M. A., Paetau, A., Tyynismaa, H., Hornemann, T. & Ylikallio, E., 21 Nov 2017, In : Cold Spring Harbor Molecular Case Studies. 3, 6, 8 p., a002212.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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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

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2016

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

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

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy

Suriyanarayanan, S., Auranen, M., Toppila, J., Paetau, A., Shcherbii, M., Palin, E., Wei, Y., Lohioja, T., Schlotter-Weigel, B., Schoen, U., Abicht, A., Rautenstrauss, B., Tyynismaa, H., Walter, M. C., Hornemann, T. & Ylikallio, E., Mar 2016, In : NeuroMolecular Medicine. 18, 1, p. 81-90 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Unique Exercise Lactate Profile in Muscle phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease

Piirilä, P., Similä, M. E., Palmio, J., Wuorimaa, T., Ylikallio, E., Sandell, S., Haapalahti, P., Uotila, L., Tyynismaa, H., Udd, B. & Auranen, M., 30 May 2016, In : Frontiers in neurology. 7, 6 p., 82.

Research output: Contribution to journalArticleScientificpeer-review

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2015

CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease

Auranen, M., Ylikallio, E., Scherbii, M., Paetau, A., Kiuru-Enari, S., Toppila, J. P. & Tyynismaa, H. R. S., 14 Apr 2015, In : Neurology Genetics. 1, 1

Research output: Contribution to journalArticleScientificpeer-review

Open Access

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Lee, J-R., Srour, M., Kim, D., Hamdan, F. F., Lim, S-H., Brunel-Guitton, C., Decarie, J-C., Rossignol, E., Mitchell, G. A., Schreiber, A., Moran, R., Van Haren, K., Richardson, R., Nicolai, J., Oberndorff, K. M. E. J., Wagner, J. D., Boycott, K. M., Rahikkala, E., Junna, N., Tyynismaa, H. & 10 others, Cuppen, I., Verbeek, N. E., Stumpel, C. T. R. M., Willemsen, M. A., de Munnik, S. A., Rouleau, G. A., Kim, E., Kamsteeg, E-J., Kleefstra, T. & Michaud, J. L., Jan 2015, In : Human Mutation. 36, 1, p. 69-78 10 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Exposure to arginine analog canavanine induces aberrant mitochondrial translation products, mitoribosome stalling, and instability of the mitochondrial proteome

Konovalova, S., Hilander, T., Loayza-Puch, F., Rooijers, K., Agami, R. & Tyynismaa, H., Aug 2015, In : International Journal of Biochemistry & Cell Biology. 65, p. 268-274 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Generating Mouse Models of Mitochondrial Disease

Ylikallio, E. & Tyynismaa, H., 2015, Movement Disorders: Genetics and Models. LeDoux, MS. (ed.). 2nd ed. ed. London: Academic Press, p. 689-701 13 p.

Research output: Chapter in Book/Report/Conference proceedingChapterScientificpeer-review

Overexpression of TFAM or Twinkle Increases mtDNA Copy Number and Facilitates Cardioprotection Associated with Limited Mitochondrial Oxidative Stress

Ikeda, M., Ide, T., Fujino, T., Arai, S., Saku, K., Kakino, T., Tyynismaa, H., Yamasaki, T., Yamada, K., Kang, D., Suomalainen, A. & Sunagawa, K., 30 Mar 2015, In : PLoS One. 10, 3, 19 p., 0119687.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry

Auranen, M., Palmio, J., Ylikallio, E. A., Huovinen, S., Paetau, A. E., Sandell, S., Haapasalo, H., Viitaniemi, K., Piirilä, P., Tyynismaa, H. & Udd, A. B., 2015, In : Neurology Genetics. 1, e7.

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

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.

Euro, L., Konovalova, S., Asin-Cayuela, J., Tulinius, M., Griffin, H., Horvath, R., Taylor, R. W., Chinnery, P. F., Schara, U., Thorburn, D. R., Wartiovaara, A., Chihade, J. & Tyynismaa, H., 2015, In : Frontiers in Genetics. 6, 12 p., 21.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress

Ylikallio, E. A., Konovalova, S., Dhungana, Y., Hilander, T. A., Junna, N. J., Partanen, J., Toppila, J., Auranen, M. P. & Tyynismaa, H. R. S., 2015, In : BBA Clinical. 3, p. 233-242 10 p.

Research output: Contribution to journalArticleScientificpeer-review

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2014

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

Mixing and matching mitochondrial aminoacyl synthetases and their tRNAs: a new way to treat respiratory chain disorders?

Tyynismaa, H. & Schon, E. A., Feb 2014, In : EMBO molecular medicine. 6, 2, p. 155-157 3 p.

Research output: Contribution to journalArticleScientificpeer-review

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2013

Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy

Ylikallio, E., Poyhonen, R., Zimon, M., De Vriendt, E., Hilander, T., Paetau, A., Jordanova, A., Lönnqvist, T. & Tyynismaa, H., 1 Aug 2013, In : Human Molecular Genetics. 22, 15, p. 2975-2983 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland

Auranen, M., Ylikallio, E., Toppila, J., Somer, M., Kiuru-Enari, S. & Tyynismaa, H., May 2013, In : Neurogenetics. 14, 2, p. 123-132 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Mitochondrial aminoacyl-tRNA synthetases in human disease

Konovalova, S. & Tyynismaa, H., Apr 2013, In : Molecular Genetics and Metabolism. 108, 4, p. 206-211 6 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

The Overexpression of Twinkle Helicase Ameliorates the Progression of Cardiac Fibrosis and Heart Failure in Pressure Overload Model in Mice

Tanaka, A., Ide, T., Fujino, T., Onitsuka, K., Ikeda, M., Takehara, T., Hata, Y., Ylikallio, E., Tyynismaa, H., Suomalainen, A. & Sunagawa, K., 28 Jun 2013, In : PLoS One. 8, 6, p. Article Number: e67642 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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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

Capsid-Modified Adenoviral Vectors for Improved Muscle-Directed Gene Therapy

Guse, K., Suzuki, M., Sule, G., Bertin, T. K., Tyynismaa, H., Ahola-Erkkila, S., Palmer, D., Suomalainen, A., Ng, P., Cerullo, V., Hemminki, A. & Lee, B., 1 Oct 2012, In : Human Gene Therapy. 23, 10, p. 1065-1070 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Kantasolujen energiantuotannon häiriö mahdollisesti vanhenemiseen liittyvän rappeutumisen taustalla

Ahlqvist, K., Hämäläinen, R., Yatsuga, S., Uutela, M. J. T., Terzioglu, M., Götz, A., Forsström, S., Salven, P., Angers-Loustau, A., Kopra, O., Tyynismaa, H., Larsson, N-G., Wartiovaara, K. J., Prolla, T., Trifunovic, A. & Suomalainen Wartiovaara, A., 2012, In : Duodecim. 128, 5, p. 533 1 p.

Research output: Contribution to journalArticleProfessional

Mitochondrial Aminoacyl-tRNA Synthetases

Tyynismaa, H., 2012, Mitochondrial Disorders caused by Nuclear Genes. Wong, L-J. (ed.). New York: Springer, p. 263-276 14 p.

Research output: Chapter in Book/Report/Conference proceedingChapterScientific