• Finland

Publications 1988 2019

2006

Phenotypic spectrum associated with mutations of the mitochondrial polymerase [gamma] gene

Horvath, R., Hudson, G., Ferrari, G., Futterer, N., Ahola-Erkkilä, S. T., Lamantea, E., Prokisch, H., Lochmuller, H., McFarland, R., Ramesh, V., Klopstock, T., Freisinger, P., Salvi, F., Mayr, J. A., Santer, R., Tesarova, M., Zeman, J., Udd, B., Taylor, R. W., Turnbull, D. & 5 othersHanna, M., Fialho, D., Suomalainen, A. E., Zeviani, M. & Chinnery, P. F., 2006, In : Brain : a journal of neurology. 129, Pt 7, p. 1674-1684 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium

Paisan-Ruiz, C., Evans, E. W., Xiromerisiou, G., Gibbs, J. R., Eerola-Rautio, J., Gourbali, V., Hellström, O., Duckworth, J., Papaditmiriou, A., Tienari, P. J., Hadjigeorgiou, G. M. & Singleton, A. B., 2006, In : Journal of Medical Genetics.

Research output: Contribution to journalArticleScientificpeer-review

2005

Affinity-capture and solid-phase sequencing of biotinylated PCR products

Suomalainen Wartiovaara, A. & Syvänen, A-C., 2005, Nucleic acids protocols handbook. Morgan, J. (ed.). Humana Press

Research output: Chapter in Book/Report/Conference proceedingChapterScientific

ApoE e3 haplotype modulating the risk of Alzheimer's disease does not affect the risk of age-related macular degeneration

Immonen, I. J., Eerola, J., Tienari, P. J., Tervo, T., Moilanen, J., Ranta, P., Tommila, P. & Holopainen, J., 2005, In : Investigative Ophthalmology & Visual Science. 46, p. - 1 p.

Research output: Contribution to journalConference articleScientificpeer-review

A rare truncating mutation in ADH1C (G 78Stop) shows significant association with Parkinson disease in a large international sample

Buervenich, S., Carmine, A., Galter, D., Shahabi, H. N., Johnels, B., Holmberg, B., Ahlberg, J., Nissbrandt, H., Eerola, J., Hellstrom, O., Tienari, P., Matsuura, T., Ashizawa, T., Wullner, U., Klockgether, T., Zimprich, A., Gasser, T., Hanson, M., Waseem, S., Singleton, A. & 4 othersMcMahon, F. J., Anvret, M., Sydow, O. & Olson, L., 2005, In : Archives of Neurology. 62, p. 74-78 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Interaction of herpesviridae, APOE gene, and education in cognitive impairment

Strandberg, T. E., Pitkälä, K., Eerola-Rautio, J., Tilvis, R. & Tienari, P. J., 2005, In : Neurobiology of Aging. 26, p. 1001-1004 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Lack of evidence for a genetic association between FGF20 and Parkinson's disease in Finnish and Greek patients

Clarimon, J., Xiromerisiou, G., Eerola-Rautio, J., Gourbali, V., Hellström, O., Dardiotis, E., Peuralinna, T., Papadimitriou, A., Hadjigeorgiou, G. M., Tienari, P. J. & Singleton, A. B., 2005, In : BMC Neurology. Jun 20, 5 s

Research output: Contribution to journalArticleScientificpeer-review

Tyrosinase exacerbates dopamine toxicity but is not genetically associated with Parkinson's disease

Greggio, E., Bergantino, E., Carter, D., Ahmad, R., Costin, G-E., Hearing, V. J., Clarimon, J., Singleton, A., Eerola-Rautio, J., Hellström, O., Tienari, P. J., Miller, D. W., Beilina, A., Bubacco, L. & Cookson, M. R., 2005, In : Journal of Neurochemistry. 93, p. 246-256 11 p.

Research output: Contribution to journalArticleScientificpeer-review

2004

Cultured cell phenotypes of patients with Twinkle and POLG mutations

Lampinen, M., Tyynismaa, H., Ahlqvist, K. & Suomalainen, A., 2004, In : Biochimica et Biophysica Acta. Bioenergetics. 1657, p. 90-91 2 p.

Research output: Contribution to journalConference articleScientificpeer-review

Late-onset disease model for adPEO-Twinkle

Tyynismaa, H., Paetau, A., Rustin, P., Spelbrink, H. & Suomalainen, A., 2004, In : Biochimica et Biophysica Acta. Bioenergetics. 1657, p. 65-65 1 p.

Research output: Contribution to journalConference articleScientificpeer-review

Novel splice site CACNA1A mutation causing episodic ataxia type 2

Kaunisto, M. A., Harno, H., Kallela, M., Somer, H., Sallinen, R., Hämäläinen, E., Miettinen, P. J., Vesa, J., Orpana, A., Palotie, A., Färkkilä, M. & Wessman, M., 2004, In : Neurogenetics. 5, p. 69-73 5 p.

Research output: Contribution to journalArticleScientificpeer-review

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

Van Goethem, G., Luoma, P., Rantamaki, M., Al Memar, A., Kaakkola, S., Hackman, P., Krahe, R., Lofgren, A., Martin, J. J., De Jonghe, P., Suomalainen, A., Udd, B. & Van Broeckhoven, C., 2004, In : Neurology. 63, p. 1251-1257 7 p.

Research output: Contribution to journalArticleScientificpeer-review

The tau H2 haplotype is almost exclusively Caucasian in origin

Evans, W., Fung, H. C., Steele, J., Eerola, J., Tienari, P., Pittman, A., de Silva, R., Myers, A., Wavrant-De Vrieze, F., Singleton, A. & Hardy, J., 2004, In : Neuroscience Letters. 369, p. 183-185 3 p.

Research output: Contribution to journalArticleScientificpeer-review

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA

Wanrooij, S., Luoma, P., van Goethem, G., van Broeckhoven, C., Suomalainen, A. & Spelbrink, J. N., 2004, In : Nucleic Acids Research. 32, p. 3053-3064 12 p.

Research output: Contribution to journalArticleScientificpeer-review

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

Tyynismaa, H., Sembongi, H., Bokori-Brown, M., Granycome, C., Ashley, N., Poulton, J., Jalanko, A., Spelbrink, J. N., Holt, I. J. & Suomalainen, A., 2004, In : Human Molecular Genetics. 13, p. 3219-3227 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Two families with autosomal dominant progressive external ophthalmoplegia

Kiechl, S., Horvath, R., Luoma, P., Kiechl-Kohlendorfer, U., Wallacher-Scholz, B., Stucka, R., Thaler, C., Wanschitz, J., Suomalainen, A., Jaksch, M. & Willeit, J., 2004, In : Journal of Neurology, Neurosurgery and Psychiatry. 75, p. 1125-1128 4 p.

Research output: Contribution to journalArticleScientificpeer-review

2003

Genome-wide search in Finnish families with inflammatory bowel disease provides evidence for novel susceptibility loci

Paavola-Sakki, P., Ollikainen, T., Helio, T., Halme, L., Turunen, U., Lahermo, P., Lappalainen, M., Farkkila, M. & Kontula, K., Feb 2003, In : European Journal of Human Genetics. 11, 2, p. 112-120 9 p.

Research output: Contribution to journalArticleScientificpeer-review

In vitro kinetics of allergen- and microbe-induced IL-4 and IFN-gamma mRNA expression in PBMC of pollen-allergic patients

Laaksonen, K., Waris, M., Mäkelä, M., Terho, EO. & Savolainen, J., Jan 2003, In : Allergy : European journal of allergy and clinical immunology. 58, 1, p. 62-66 5 p.

Research output: Contribution to journalArticleScientificpeer-review

POLG1 gene defects and Parkinson's disease

Suomalainen Wartiovaara, A. & Luoma, P., 2003, Patent No. PCT/FI2004/000307

Research output: PatentScientific

Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients

Enholm, S., Hienonen, T., Suomalainen, A., Lipton, L., Tomlinson, I., Karja, V., Eskelinen, M., Mecklin, J. P., Karhu, A., Jarvinen, H. J. & Aaltonen, L. A., 2003, In : The American Journal of Pathology. 163, p. 827-832 6 p.

Research output: Contribution to journalArticleScientificpeer-review

2002

Evidence for Dissociation of Spatial and Nonspatial Auditory Information Processing

Anurova, I., Nikulin, V., Ilmoniemi, R. J., Hotta, J., Aronen, H. J. & Carlson, L. S., 2002, In : NeuroImage. 14, 6, p. 1268-1277

Research output: Contribution to journalArticleScientificpeer-review

Krebs means cancer

Suomalainen Wartiovaara, A. & Jacobs, H., 2002, In : Trends in Genetics. 18, 6, p. 285-286

Research output: Contribution to journalArticleScientificpeer-review

2001

ATP, phosphocreatine and lactate in exercising muscle in mitochondrial disease and McArdle's disease

Lofberg, M., Lindholm, H., Naveri, H., Majander, A., Suomalainen, A., Paetau, A., Sovijärvi, A., Harkonen, M. & Somer, H., 2001, In : Neuromuscular Disorders. 11, p. 370-375 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Characterization of a novel human putative mitochondrial transporter homologous to the yeast mitochondrial RNA splicing proteins 3 and 4

Li, F. Y., Nikali, K., Gregan, J., Leibiger, I., Leibiger, B., Schweyen, R., Larsson, C. & Suomalainen, A., 2001, In : FEBS Letters. 494, p. 79-84 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Decrease of 3243 A -> G mtDNA mutation from blood in MELAS syndrome: A longitudinal study

Rahman, S., Poulton, J., Marchington, D. & Suomalainen, A., 2001, In : American Journal of Human Genetics. 68, p. 238-240 3 p.

Research output: Contribution to journalArticleScientificpeer-review

Diseases caused by nuclear genes affecting mtDNA stability

Suomalainen, A. & Kaukonen, J., 2001, In : American journal of medical genetics. 106, p. 53-61 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria (vol 28, pg 223, 2001)

Spelbrink, J. N., Li, F. Y., Tiranti, V., Nikali, K., Yuan, Q. P., Tariq, M., Wanrooij, S., Garrido, N., Comi, G., Morandi, L., Santoro, L., Toscano, A., Fabrizi, G. M., Somer, H., Croxen, R., Beeson, D., Poulton, J., Suomalainen, A., Jacobs, H. T., Zeviani, M. & 1 othersLarsson, C., 2001, In : Nature Genetics. 28, p. 223-231 1 p.

Research output: Contribution to journalArticleScientificpeer-review

Hur stor är risken för ADHD-patienter att utveckla missbruk av alkohol och droger? En litteraturgenomgång av longitudinella studier

Melkas, S. & Larsson, J-O., 1 Oct 2001, Stockholm: Karolinska Institutet University Press. 35 p. (Karolinska Institutet Research Report; no. 19)

Research output: Book/ReportAnthology or special issueScientific

2000

Exclusion of CACNA1A and KCNN1 as candidate genes for migraine in three 19p13-linked Finnish families.

Kaunisto, M., Hamalainen, E., Kallela, M., Harno, H., Marttila, P., Hovatta, I., Orpana, A., Peltonen, L., Farkkila, M., Palotie, A. & Wessman, M., 2000, In : American Journal of Human Genetics. 67, p. 329-329 1 p.

Research output: Contribution to journalConference articleScientificpeer-review

Quantitative analysis of human DNA sequences by PCR and solid-phase minisequencing

Suomalainen, A. & Syvanen, A. C., 2000, In : Molecular Biotechnology. 15, p. 123-131 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Role of adenine nucleotide translocator 1 in mtDNA maintenance

Kaukonen, J., Juselius, J. K., Tiranti, V., Kyttala, A., Zeviani, M., Comi, G. P., Keranen, S., Palotie, L. & Suomalainen, A., 2000, In : Science Progress. 289, p. 782-785 4 p.

Research output: Contribution to journalArticleScientificpeer-review

1999

Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals

Rovio, A., Tiranti, V., Bednarz, A. L., Suomalainen, A., Spelbrink, J. N., Lecrenier, N., Melberg, A., Zeviani, M., Poulton, J., Foury, F. & Jacobs, H. T., 1999, In : European Journal of Human Genetics. 7, p. 140-146 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Gas production by intestinal microflora of lactose maldigesters

Rautio, M., von Ungern-Sternberg, M., Ariniemi, K., Nieminen, U., Korpela, R., Vesa, T., Saxelin, M., Siitonen, A., Farkkila, M. & Jousimies-Somer, H., 1999, In : Anaerobe. 5, p. 141-144 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Genetic studies on Finnish families with familial hemiplegic migraine.

Kaunisto, M., Kallela, M., Marttila, P., Farkkila, M., Havanka, H., Hamalainen, E., Hovatta, I., Orpana, A., Peltonen, L., Palotie, A. & Wessman, M., 1999, In : American Journal of Human Genetics. 65, p. A257-A257 1 p.

Research output: Contribution to journalConference articleScientificpeer-review

1998

Neuroradiologic findings in children with mitochondrial disorders

Valanne, L., Ketonen, L., Majander, A., Suomalainen, A. & Pihko, H., 1998, In : American Journal of Neuroradiology. 19, p. 369-377 9 p.

Research output: Contribution to journalArticleScientificpeer-review

1997

Mitochondrial DNA and disease

Suomalainen, A., 1997, In : Annals of Internal Medicine. 29, p. 235-246 12 p.

Research output: Contribution to journalArticleScientificpeer-review

The assignment of the lethal congenital contracture syndrome (LCCS) locus to chromosome 9q33-34.

Makela-Bengs, P., Jarvinen, N., Vuopala, K., Suomalainen, A., Palotie, A. & Peltonen, L., 1997, In : American Journal of Human Genetics. 61, p. A30-A30 1 p.

Research output: Contribution to journalArticleScientificpeer-review

1996

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p

Kaukonen, J. A., Amati, P., Suomalainen, A., Rotig, A., Piscaglia, M. G., Salvi, F., Weissenbach, J., Fratta, G., Comi, G., Peltonen, L. & Zeviani, M., 1996, In : American Journal of Human Genetics. 58, p. 763-769 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Concentrations and effects of oral midazolam are greatly reduced in patients treated with carbamazepine or phenytoin

Backman, JT., Olkkola, KT., Ojala, M., Laaksovirta, H. & Neuvonen, PJ., Mar 1996, In : Epilepsia. 37, 3, p. 253-257 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Laminar cortical necrosis in MELAS syndrome: MR and neuropathological observations

Valanne, L., Paetau, A., Suomalainen, A., Ketonen, L. & Pihko, H., 1996, In : Neuropediatrics. 27, p. 154-160 7 p.

Research output: Contribution to journalArticleScientificpeer-review

1995

DIAGNOSIS OF FATAL INFANTILE DEFECTS OF THE MITOCHONDRIAL RESPIRATORY-CHAIN - AGE-DEPENDENCE AND POSTMORTEM ANALYSIS OF ENZYME-ACTIVITIES

MAJANDER, A., RAPOLA, J., SARIOLA, H., SUOMALAINEN, A., POHJAVUORI, M. & PIHKO, H., 1995, In : Journal of the Neurological Sciences. 134, p. 95-102 8 p.

Research output: Contribution to journalArticleScientificpeer-review

GENOTYPE TO PHENOTYPE CORRELATIONS IN MITOCHONDRIAL ENCEPHALOMYOPATHIES ASSOCIATED WITH THE A3243G MUTATION OF MITOCHONDRIAL-DNA

MARIOTTI, C., SAVARESE, N., SUOMALAINEN, A., RIMOLDI, M., COMI, G., PRELLE, A., ANTOZZI, C., SERVIDEI, S., JARRE, L., DIDONATO, S. & ZEVIANI, M., 1995, In : Journal of Neurology. 242, p. 304-312 9 p.

Research output: Contribution to journalArticleScientificpeer-review

IDENTIFICATION OF A 2ND AUTOSOMAL LOCUS PREDISPOSING TO MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA

KAUKONEN, J., AMATI, P., SUOMALAINEN, A., ROTIG, A., ANTOZZI, C., SALVI, F., WEISSENBACH, J., PELTONEN, L. & ZEVIANI, M., 1995, In : American Journal of Human Genetics. 57, p. 1246-1246 1 p.

Research output: Contribution to journalArticleScientificpeer-review

Isolated Retrograde-Amnesia For Autobiographical Material Associated With Acute Left Temporal-Lobe Encephalitis

HOKKANEN, L., LAUNES, J., VATAJA, R., VALANNE, L. & IIVANAINEN, M., Jan 1995, In : Psychological Medicine. 25, 1, p. 203-208 6 p.

Research output: Contribution to journalArticleScientificpeer-review

THE LETHAL CONGENITAL CONTRACTURE SYNDROME - A MOTONEURON DISEASE OF THE FETUS

MAKELABENGS, P., VUOPALA, K., SUOMALAINEN, A. & PELTONEN, L., 1995, In : Journal of Cellular Biochemistry. p. 99-99 1 p.

Research output: Contribution to journalArticleScientificpeer-review

1994

Familial migraine: exclusion of the susceptibility gene from the reported locus of familial hemiplegic migraine on 19p

Hovatta, I., Kallela, K. M. J., Färkkilä, M. & Peltonen, L., 1994, In : Genomics. 1994, 23, p. 707-709 3 p.

Research output: Contribution to journalArticleScientificpeer-review

Reversible cognitive decline during high dose α-interferon treatment.

POUTIAINEN, E., HOKKANEN, L., NIEMI, ML. & FARKKILA, M., Apr 1994, In : Pharmacology, Biochemistry and Behavior. 47, 4, p. 901-905 5 p.

Research output: Contribution to journalArticleScientificpeer-review

1993

QUANTIFICATION OF TRANSFER RNA(3243)(LEU) POINT MUTATION OF MITOCHONDRIAL-DNA IN MELAS PATIENTS AND ITS EFFECTS ON MITOCHONDRIAL TRANSCRIPTION

SUOMALAINEN, A., MAJANDER, A., PIHKO, H., PELTONEN, L. & SYVANEN, A. C., 1993, In : Human Molecular Genetics. 2, p. 525-534 10 p.

Research output: Contribution to journalArticleScientificpeer-review

1992

DISORDERS ASSOCIATED WITH MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA

HALTIA, M., SUOMALAINEN, A., MAJANDER, A. & SOMER, H., 1992, In : Brain Pathology. 2, p. 133-139 7 p.

Research output: Contribution to journalArticleScientificpeer-review

INHERITED IDIOPATHIC DILATED CARDIOMYOPATHY WITH MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA

SUOMALAINEN, A., PAETAU, A., LEINONEN, H., MAJANDER, A., PELTONEN, L. & SOMER, H., 1992, In : Lancet. 340, p. 1319-1320 2 p.

Research output: Contribution to journalArticleScientificpeer-review