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Anu Suomalainen

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Christopher J Carroll; Liliya Euro; Alexandra Götz; Pirjo Isohanni; Taina Lahtinen; Anders Paetau; Helena Pihko; Rosanna Pöyhönen; Uwe Richter; Brendan J Battersby; Virginia Brilhante; Henna Tyynismaa; Anu Suomalainen
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
Ras Trokovic; Jere Weltner; Anu Suomalainen; Riikka Hämäläinen; Karolina Lundin; Tuula Manninen; Milla Mikkola; Timo Otonkoski
Small molecule inhibitors promote efficient generation of induced pluripotent stem cells from human skeletal myoblasts.
Jenni M Elo; Liliya Euro; Alexandra Götz; Michael Ibba; Pirjo Isohanni; Anders Paetau; Helena Pihko; Henna Tyynismaa; Johanna Uusimaa; Leena Valanne; Srujana S Yadavalli; Fowzan S Alkuraya; Christopher J Carroll; Eric M Caruso; Anu Suomalainen
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.

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2013: Christopher J Carroll; Liliya Euro; Alexandra Götz; Pirjo Isohanni; Taina Lahtinen; Anders Paetau; Helena Pihko; Rosanna Pöyhönen; Uwe Richter; Brendan J Battersby; Virginia Brilhante; Henna Tyynismaa; Anu Suomalainen
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
Journal of medical genetics 2013;50(3):151-9.
2013: Ras Trokovic; Jere Weltner; Anu Suomalainen; Riikka Hämäläinen; Karolina Lundin; Tuula Manninen; Milla Mikkola; Timo Otonkoski
Small molecule inhibitors promote efficient generation of induced pluripotent stem cells from human skeletal myoblasts.
Stem cells and development 2013;22(1):114-23.
2012: Jenni M Elo; Liliya Euro; Alexandra Götz; Michael Ibba; Pirjo Isohanni; Anders Paetau; Helena Pihko; Henna Tyynismaa; Johanna Uusimaa; Leena Valanne; Srujana S Yadavalli; Fowzan S Alkuraya; Christopher J Carroll; Eric M Caruso; Anu Suomalainen
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
Human molecular genetics 2012;21(20):4521-9.
2012: Kilian Guse; Akseli Hemminki; Sofia Ahola-Erkkilä; Terry K Bertin; Vincenzo Cerullo; Philip Ng; Donna Palmer; Gautam Sule; Anu Suomalainen; Masataka Suzuki; Henna Tyynismaa; Brendan Lee
Capsid-modified adenoviral vectors for improved muscle-directed gene therapy.
Human gene therapy 2012;23(10):1065-70.
2012: T Ojala; Padmini Polinati; Jukka Rajantie; Anu Suomalainen; A Hiippala; Riitta Karikoski; Tuula Manninen; Tiina Tyni
New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.
Pediatric research 2012;72(4):432-7.
2012: Anu Suomalainen; Jyrki Törnwall; J Hagström
CT findings of necrotizing sialometaplasia.
Dento maxillo facial radiology 2012;41(6):529-32.
2012: Alexandra Götz; Eila Herrgård; Pirjo Isohanni; Brita Liljeström; Sanna Marjavaara; Kari Nikolajev; Jaana Rummukainen; Anu Suomalainen
Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation.
Pediatric research 2012;72(1):90-4.
2012: Eino J H Palin; Anna H Hakonen; Mari Korpela; Anders Paetau; Anu Suomalainen
Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia.
Journal of the neurological sciences 2012;315(1-2):160-3.
2012: Emil Ylikallio; Anu Suomalainen
Mechanisms of mitochondrial diseases.
Annals of medicine 2012;44(1):41-59.
2011: Liliya Euro; Gregory A Farnum; Eino Palin; Anu Suomalainen; Laurie S Kaguni
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.
Nucleic acids research 2011;39(21):9072-84.
2011: Anu Suomalainen; Mar Tulinius; Tiina Tyni; Johanna Uusimaa; Hannele Yki-Järvinen; Katrin Ounap; Johanna Annunen-Rasila; Laurence A Bindoff; Jana Buzkova; Niklas Darin; Jenni M Elo; Anna H Hakonen; Michio Hirano; Pirjo Isohanni; Sari Kiuru-Enari; Leo A J Kluijtmans; Mari Korpela; Sanna K Marjavaara; Anders Paetau; Kirsi H Pietiläinen; Helena Pihko; Aila Rissanen; Ksenia Sevastianova; Jan Smeitink; Henna Tyynismaa
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.
Lancet neurology 2011;10(9):806-18.
2011: Anu Suomalainen
Therapy for mitochondrial disorders: little proof, high research activity, some promise.
Seminars in fetal & neonatal medicine 2011;16(4):236-40.
2011: Vineta Fellman; Anu Suomalainen
Mitochondrial disorders in the perinatal period.
Seminars in fetal & neonatal medicine 2011;16(4):173-4.
2011: Alexandra Götz; Henna Tyynismaa; Liliya Euro; Pekka Ellonen; Tuulia Hyötyläinen; T Ojala; Riikka H Hämäläinen; Johanna Tommiska; Taneli Raivio; Matej Oresic; Riitta Karikoski; Outi Tammela; Kalle O J Simola; Anders Paetau; Tiina Tyni; Anu Suomalainen
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
American journal of human genetics 2011;88(5):635-42.
2011: Anu Suomalainen
Biomarkers for mitochondrial respiratory chain disorders.
Journal of inherited metabolic disease 2011;34(2):277-82.
2011: P Isohanni; Anna H Hakonen; L Euro; I Paetau; T Linnankivi; E Liukkonen; T Wallden; L Luostarinen; Leena Valanne; Anders Paetau; J Uusimaa; Tuula Lönnqvist; Anu Suomalainen; H Pihko
POLG1 manifestations in childhood.
Neurology 2011;76(9):811-5.
2011: Henna Tyynismaa; Taneli Raivio; Antti Hakkarainen; Alfredo Ortega-Alonso; Nina Lundbom; Jaakko Kaprio; Aila Rissanen; Anu Suomalainen; Kirsi H Pietiläinen
Liver fat but not other adiposity measures influence circulating FGF21 levels in healthy young adult twins.
The Journal of clinical endocrinology and metabolism 2011;96(2):E351-5.
2011: Tuula Lönnqvist; P Isohanni; Leena Valanne; T Olli-Lähdesmäki; Anu Suomalainen; Helena Pihko
Dominant encephalopathy mimicking mitochondrial disease.
Neurology 2011;76(1):101-3.
2011: Anna-Maija Sulonen; Anu Suomalainen; Henna Tyynismaa; Perttu Salo; Henrikki Almusa; Samuli Eldfors; Pekka Ellonen; Sari Hannula; Caroline Heckman; Heikki Joensuu; Maija Lepistö; Timo Miettinen; Taneli Raivio; Janna Saarela
Comparison of solution-based exome capture methods for next generation sequencing.
Genome biology 2011;12(9):R94.
2010: Emil Ylikallio; Jennifer L Page; Xia Xu; Milla Lampinen; Gerold Bepler; Tomomi Ide; Henna Tyynismaa; Robert S Weiss; Anu Suomalainen
Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice.
Nucleic acids research 2010;38(22):8208-18.
2010: Henna Tyynismaa; Christopher J Carroll; Nuno Raimundo; Sofia Ahola-Erkkilä; Tina Wenz; Heini Ruhanen; Kilian Guse; Akseli Hemminki; Katja E Peltola-Mjøsund; Valtteri Tulkki; Matej Oresic; Carlos T Moraes; Kirsi Pietiläinen; Iiris Hovatta; Anu Suomalainen
Mitochondrial myopathy induces a starvation-like response.
Human molecular genetics 2010;19(20):3948-58.
2010: Henna Tyynismaa; Anu Suomalainen
Mouse models of mtDNA replication diseases.
Methods (San Diego, Calif.) 2010;51(4):405-10.
2010: Laura Kerosuo; Heli Fox; Nina Perälä; Kati Ahlqvist; Anu Suomalainen; Jukka Westermarck; Hannu Sariola; Kirmo Wartiovaara
CIP2A increases self-renewal and is linked to Myc in neural progenitor cells.
Differentiation; research in biological diversity 2010;80(1):68-77.
2010: Anu Suomalainen; Pirjo Isohanni
Mitochondrial DNA depletion syndromes--many genes, common mechanisms.
Neuromuscular disorders : NMD 2010;20(7):429-37.
2010: Emil Ylikallio; Henna Tyynismaa; Hiroyuki Tsutsui; Tomomi Ide; Anu Suomalainen
High mitochondrial DNA copy number has detrimental effects in mice.
Human molecular genetics 2010;19(13):2695-705.
2010: Johanna Eerola; Petri Luoma; Terhi Peuralinna; Sonja Scholz; Coro Paisan-Ruiz; Anu Suomalainen; Andrew Singleton; Pentti J Tienari
POLG1 polyglutamine tract variants associated with Parkinson's disease.
Neuroscience letters 2010;477(1):1-5.
2010: Eino J H Palin; Annamari Lesonen; Carol L Farr; Liliya Euro; Anu Suomalainen; Laurie S Kaguni
Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G.
Biochimica et biophysica acta 2010;1802(6):545-51.
2010: Sofia Ahola-Erkkilä; Christopher J Carroll; Katja Peltola-Mjösund; Valtteri Tulkki; Ismo Mattila; Tuulikki Seppänen-Laakso; Matej Oresic; Henna Tyynismaa; Anu Suomalainen
Ketogenic diet slows down mitochondrial myopathy progression in mice.
Human molecular genetics 2010;19(10):1974-84.
2010: Jaakko L O Pohjoismäki; Steffi Goffart; Robert W Taylor; Douglas M Turnbull; Anu Suomalainen; Howard T Jacobs; Pekka J Karhunen
Developmental and pathological changes in the human cardiac muscle mitochondrial DNA organization, replication and copy number.
PloS one 2010;5(5):e10426.
2010: P Isohanni; T Linnankivi; J Buzkova; Tuula Lönnqvist; Helena Pihko; Leena Valanne; Pentti J Tienari; I Elovaara; T Pirttilä; M Reunanen; K Koivisto; S Marjavaara; Anu Suomalainen
DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.
Journal of medical genetics 2010;47(1):66-70.
2009: Anu Suomalainen; T Kiljunen; Y Käser; Jaakko Sakari Peltola; Mika Kortesniemi
Dosimetry and image quality of four dental cone beam computed tomography scanners compared with multislice computed tomography scanners.
Dento maxillo facial radiology 2009;38(6):367-78.
2009: Jaakko L O Pohjoismäki; Steffi Goffart; Henna Tyynismaa; Smaranda Willcox; Tomomi Ide; Dongchon Kang; Anu Suomalainen; Pekka J Karhunen; Jack D Griffith; Ian J Holt; Howard T Jacobs
Human heart mitochondrial DNA is organized in complex catenated networks containing abundant four-way junctions and replication forks.
The Journal of biological chemistry 2009;284(32):21446-57.
2009: Henna Tyynismaa; Emil Ylikallio; Mehul Patel; Maria J Molnar; Ronald G Haller; Anu Suomalainen
A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.
American journal of human genetics 2009;85(2):290-5.
2009: Lauri I Peltonen; Antti A Aarnisalo; Y Käser; Mika Kortesniemi; Soraya Robinson; Anu Suomalainen; Jussi Jero
Cone-beam computed tomography: a new method for imaging of the temporal bone.
Acta radiologica (Stockholm, Sweden : 1987) 2009;50(5):543-8.
2009: Milja Kaare; Alexandra Götz; Veli-Matti Ulander; Sarah Ariansen; Risto Kaaja; Anu Suomalainen; Kristiina Aittomäki
Do mitochondrial mutations cause recurrent miscarriage?
Molecular human reproduction 2009;15(5):295-300.
2009: Anu Suomalainen; S Apajalahti; M Kuhlefelt; J Hagström
Simple bone cyst: a radiological dilemma.
Dento maxillo facial radiology 2009;38(3):174-7.
2008: Anna H Hakonen; Steffi Goffart; Sanna Marjavaara; Anders Paetau; Helen Cooper; Kimmo Mattila; Milla Lampinen; Antti Sajantila; Tuula Lönnqvist; Johannes N Spelbrink; Anu Suomalainen
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
Human molecular genetics 2008;17(23):3822-35.
2008: Alexandra Götz; Pirjo Isohanni; Helena Pihko; Anders Paetau; Riitta Herva; Outi Saarenpää-Heikkilä; Leena Valanne; Sanna Marjavaara; Anu Suomalainen
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
Brain : a journal of neurology 2008;131(Pt 11):2841-50.
2008: Annina Lyly; Sanna K Marjavaara; Aija Kyttälä; Kristiina Uusi-Rauva; Kaisu Luiro; Outi Kopra; Laurent O Martinez; Kimmo Tanhuanpää; Nisse Kalkkinen; Anu Suomalainen; Matti Jauhiainen; Anu Jalanko
Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism.
Human molecular genetics 2008;17(10):1406-17.
2008: Gavin Hudson; Patrizia Amati-Bonneau; Emma L Blakely; Joanna D Stewart; Langping He; Andrew M Schaefer; Philip G Griffiths; Kati Ahlqvist; Anu Suomalainen; Pascal Reynier; Robert McFarland; Douglass M Turnbull; Patrick F Chinnery; Robert W Taylor
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
Brain : a journal of neurology 2008;131(Pt 2):329-37.
2008: Anu Suomalainen; T Vehmas; Mika Kortesniemi; Soraya Robinson; Jaakko Sakari Peltola
Accuracy of linear measurements using dental cone beam and conventional multislice computed tomography.
Dento maxillo facial radiology 2008;37(1):10-7.
2007: Maria T Rantamäki; Petri Luoma; J J Virta; J O Rinne; Anders Paetau; Anu Suomalainen; Bjarne Udd
Do carriers of POLG mutation W748S have disease manifestations?
Clinical genetics 2007;72(6):532-7.
2007: Anna H Hakonen; Pirjo Isohanni; Anders Paetau; Riitta Herva; Anu Suomalainen; Tuula Lönnqvist
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
Brain : a journal of neurology 2007;130(Pt 11):3032-40.
2007: Petri Luoma; Johanna Eerola; Sofia Ahola; Anna H Hakonen; Olli Hellström; K T Kivistö; Pentti J Tienari; Anu Suomalainen
Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.
Neurology 2007;69(11):1152-9.
2007: Anna H Hakonen; Guido Davidzon; Renato Salemi; Laurence A Bindoff; Gert Van Goethem; Salvatore DiMauro; David R Thorburn; Anu Suomalainen
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
European journal of human genetics : EJHG 2007;15(7):779-83.
2007: Neil Ashley; Susan Adams; Abdelhamid Slama; Massimo Zeviani; Anu Suomalainen; Antonio L Andreu; Robert K Naviaux; Joanna Poulton
Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.
Human molecular genetics 2007;16(12):1400-11.
2007: Lauri I Peltonen; Antti A Aarnisalo; Mika Kortesniemi; Anu Suomalainen; Jussi Jero; Soraya Robinson
Limited cone-beam computed tomography imaging of the middle ear: a comparison with multislice helical computed tomography.
Acta radiologica (Stockholm, Sweden : 1987) 2007;48(2):207-12.
2006: Rita Horvath; Gavin Hudson; Gianfrancesco Ferrari; Nancy Fütterer; Sofia Ahola; Eleonora Lamantea; Holger Prokisch; Hanns Lochmüller; Robert McFarland; V Ramesh; Thomas Klopstock; Peter Freisinger; Fabrizio Salvi; Johannes A Mayr; René Santer; Marketa Tesarova; Jirí Zeman; Bjarne Udd; Robert W Taylor; Douglass Turnbull; Michael Hanna; Doreen Fialho; Anu Suomalainen; Massimo Zeviani; Patrick F Chinnery
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Brain : a journal of neurology 2006;129(Pt 7):1674-84.
2005: Henna Tyynismaa; Katja Peltola Mjosund; Sjoerd Wanrooij; Ilse Lappalainen; Emil Ylikallio; Anu Jalanko; Johannes N Spelbrink; Anders Paetau; Anu Suomalainen
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(49):17687-92.
2005: Kaisu Nikali; Anu Suomalainen; Juha Saharinen; Mikko Kuokkanen; Johannes N Spelbrink; Tuula Lönnqvist; Leena Peltonen
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
Human molecular genetics 2005;14(20):2981-90.
2005: Anna H Hakonen; Silja Heiskanen; Vesa Juvonen; Ilse Lappalainen; Petri Luoma; Maria Rantamaki; Gert Van Goethem; Ann Lofgren; Peter Hackman; Anders Paetau; Seppo Kaakkola; Kari Majamaa; Teppo Varilo; Bjarne Udd; Helena Kaariainen; Laurence A Bindoff; Anu Suomalainen
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.
American journal of human genetics 2005;77(3):430-41.
2005: Atle Melberg; Inger Nennesmo; Ali-Reza Moslemi; Gittan Kollberg; Petri Luoma; Anu Suomalainen; Elisabeth Holme; Anders Oldfors
Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?
Acta neuropathologica 2005;110(3):315-6.
2005: Laura Stenqvist; Anders Paetau; Leena Valanne; Anu Suomalainen; Helena Pihko
A juvenile case of MELAS with T3271C mitochondrial DNA mutation.
Pediatric research 2005;58(2):258-62.
2005: Petri Luoma; Ningguang Luo; Wolfgang N Löscher; Carol L Farr; Rita Horvath; Julia Wanschitz; Stefan Kiechl; Laurie S Kaguni; Anu Suomalainen
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
Human molecular genetics 2005;14(14):1907-20.
2004: Henna Tyynismaa; Hiroshi Sembongi; Monika Bokori-Brown; Caroline Granycome; Neil Ashley; Joanna Poulton; Anu Jalanko; Johannes N Spelbrink; Ian J Holt; Anu Suomalainen
Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number.
Human molecular genetics 2004;13(24):3219-27.
2004: Gert Van Goethem; Petri Luoma; Maria T Rantamäki; A Al Memar; Seppo Kaakkola; Peter Hackman; Ralf Krahe; Ann Löfgren; Jean-Jacques Martin; Peter De Jonghe; Anu Suomalainen; Bjarne Udd; Christine Van Broeckhoven
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
Neurology 2004;63(7):1251-7.
2004: Petri Luoma; Atle Melberg; Juha O Rinne; Jyrki A Kaukonen; Nina N Nupponen; Richard M Chalmers; Anders Oldfors; Ilkka Rautakorpi; Leena Peltonen; Kari Majamaa; Hannu Somer; Anu Suomalainen
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
Lancet 2004;364(9437):875-82.
2004: Stefan Kiechl; Rita Horváth; Petri Luoma; Ursula Kiechl-Kohlendorfer; B Wallacher-Scholz; Rolf Stucka; C Thaler; Julia Wanschitz; Anu Suomalainen; Michaela Jaksch; Johann Willeit
Two families with autosomal dominant progressive external ophthalmoplegia.
Journal of neurology, neurosurgery, and psychiatry 2004;75(8):1125-8.
2004: Sjoerd Wanrooij; Petri Luoma; Gert Van Goethem; Christine Van Broeckhoven; Anu Suomalainen; Johannes N Spelbrink
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.
Nucleic acids research 2004;32(10):3053-64.
2003: Susa Enholm; Tuija Hienonen; Anu Suomalainen; Lara Lipton; Ian Tomlinson; Vesa Kärjä; Matti Eskelinen; Jukka-Pekka Mecklin; Auli Karhu; Heikki J Järvinen; Lauri A Aaltonen
Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients.
The American journal of pathology 2003;163(3):827-32.
2001: Johannes N Spelbrink; FY Li; Valeria Tiranti; Kaisu Nikali; Qiu-Ping Yuan; M Tariq; Sjoerd Wanrooij; Nuria Garrido; G Comi; L Morandi; L Santoro; A Toscano; G M Fabrizi; Hannu Somer; Rebecca Croxen; David Beeson; Joanna Poulton; Anu Suomalainen; Howard T Jacobs; Massimo Zeviani; Catharina Larsson
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
Nature genetics 2001;28(3):223-31.
2001: Mervi Löfberg; Harri Lindholm; Hannu Näveri; A Majander; Anu Suomalainen; Anders Paetau; Anssi Sovijärvi; Matti Härkönen; Hannu Somer
ATP, phosphocreatine and lactate in exercising muscle in mitochondrial disease and McArdle's disease.
Neuromuscular disorders : NMD 2001;11(4):370-5.
2001: FY Li; Kaisu Nikali; J Gregan; Ingo B Leibiger; Barbara Leibiger; Rudolf J Schweyen; Catharina Larsson; Anu Suomalainen
Characterization of a novel human putative mitochondrial transporter homologous to the yeast mitochondrial RNA splicing proteins 3 and 4.
FEBS letters 2001;494(1-2):79-84.
2001: Anu Suomalainen; Jyrki A Kaukonen
Diseases caused by nuclear genes affecting mtDNA stability.
American journal of medical genetics 2001;106(1):53-61.
2001: Shamina Rahman; Joanna Poulton; David R Marchington; Anu Suomalainen
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.
American journal of human genetics 2001;68(1):238-40.
2000: Jyrki A Kaukonen; J K Juselius; Valeria Tiranti; Aija Kyttälä; M Zeviani; G P Comi; Sirkka Keränen; Leena Peltonen; Anu Suomalainen
Role of adenine nucleotide translocator 1 in mtDNA maintenance.
Science (New York, N.Y.) 2000;289(5480):782-5.
1999: Jyrki A Kaukonen; M Zeviani; G P Comi; M G Piscaglia; Leena Peltonen; Anu Suomalainen
A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia.
American journal of human genetics 1999;65(1):256-61.
1999: Anja T Rovio; Valeria Tiranti; AL Bednarz; Anu Suomalainen; Johannes N Spelbrink; N Lecrenier; Atle Melberg; Massimo Zeviani; Joanna Poulton; Françoise Foury; Howard T Jacobs
Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.
European journal of human genetics : EJHG 1999;7(2):140-6.
1998: Nina Järvinen; P Mäkelä-Bengs; Anu Suomalainen; Katri Vuopala; Riitta Herva; Aarno Palotie; Leena Peltonen
LCCS: a lethal motoneuron disease of the fetus maps to chromosome 9q34.
Annals of the New York Academy of Sciences 1998;857():260-2.
1998: P Mäkelä-Bengs; Nina Järvinen; Katri Vuopala; Anu Suomalainen; Jaakko Ignatius; M Sipilä; Riitta Herva; Aarno Palotie; Leena Peltonen
Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals.
American journal of human genetics 1998;63(2):506-16.
1998: Päivi Pajukanta; Ilpo Nuotio; Joseph D Terwilliger; Kimmo Porkka; Kati Ylitalo; Jussi Pihlajamäki; Anu Suomalainen; Ann-Christine Syvänen; T Lehtimäki; Jorma S A Viikari; Markku Laakso; Marja-Riitta Taskinen; Christian Ehnholm; Leena Peltonen
Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23.
Nature genetics 1998;18(4):369-73.
1998: Leena Valanne; L Ketonen; A Majander; Anu Suomalainen; Helena Pihko
Neuroradiologic findings in children with mitochondrial disorders.
AJNR. American journal of neuroradiology 1998;19(2):369-77.
1998: Anu Suomalainen; Ann-Christine Syvänen
Quantitative analysis of RNA species by PCR and solid-phase minisequencing.
Methods in molecular biology (Clifton, N.J.) 1998;86():121-31.
1997: Sami Mustajoki; Raili Kauppinen; Pertti Mustajoki; Anu Suomalainen; Leena Peltonen
Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
Genome research 1997;7(11):1054-60.
1997: Anu Suomalainen
Mitochondrial DNA and disease.
Annals of medicine 1997;29(3):235-46.
1997: Anu Suomalainen; A Majander; M Wallin; Kirsi Setälä; Kimmo Kontula; H Leinonen; T Salmi; Anders Paetau; Matti Haltia; Leena Valanne; J Lonnqvist; Leena Peltonen; Hannu Somer
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease.
Neurology 1997;48(5):1244-53.
1997: Kaisu Nikali; Juha Isosomppi; Tuula Lönnqvist; J I Mao; Anu Suomalainen; Leena Peltonen
Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24.
Genomics 1997;39(2):185-91.
1996: Teppo Varilo; Kaisu Nikali; Anu Suomalainen; Tuula Lönnqvist; Leena Peltonen
Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus.
Genome research 1996;6(9):870-5.
1996: Leena Valanne; A Paetau; Anu Suomalainen; L Ketonen; Helena Pihko
Laminar cortical necrosis in MELAS syndrome: MR and neuropathological observations.
Neuropediatrics 1996;27(3):154-60.
1996: J A Kaukonen; P Amati; Anu Suomalainen; A Rötig; M G Piscaglia; F Salvi; J Weissenbach; G Fratta; G Comi; Leena Peltonen; Massimo Zeviani
An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.
American journal of human genetics 1996;58(4):763-9.
1996: Anu Suomalainen; Ann-Christine Syvänen
Analysis of nucleotide sequence variations by solid-phase minisequencing.
Methods in molecular biology (Clifton, N.J.) 1996;65():73-9.
1995: A Majander; Juhani Rapola; Hannu Sariola; Anu Suomalainen; Maija Pohjavuori; Helena Pihko
Diagnosis of fatal infantile defects of the mitochondrial respiratory chain: age dependence and postmortem analysis of enzyme activities.
Journal of the neurological sciences 1995;134(1-2):95-102.
1995: Kaisu Nikali; Anu Suomalainen; Joseph D Terwilliger; T Koskinen; J Weissenbach; Leena Peltonen
Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus.
American journal of human genetics 1995;56(5):1088-95.
1995: P Mäkelä-Bengs; Anu Suomalainen; A Majander; J Rapola; Hannu Kalimo; A Nuutila; Helena Pihko
Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome.
Pediatric research 1995;37(5):634-9.
1995: Anu Suomalainen; J Kaukonen; P Amati; R Timonen; M Haltia; J Weissenbach; Massimo Zeviani; H Somer; Leena Peltonen
An autosomal locus predisposing to deletions of mitochondrial DNA.
Nature genetics 1995;9(2):146-51.
1995: Katri Vuopala; P Mäkelä-Bengs; Anu Suomalainen; Riitta Herva; Jaakko Leisti; Leena Peltonen
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus.
Journal of medical genetics 1995;32(1):36-8.
1994: Kaisu Nikali; T Koskinen; Anu Suomalainen; Helena Pihko; Leena Peltonen
Infantile onset spinocerebellar ataxia represents an allelic disease distinct from other hereditary ataxias.
Pediatric research 1994;36(5):607-12.
1993: Anu Suomalainen; A Majander; Helena Pihko; Leena Peltonen; Ann-Christine Syvänen
Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription.
Human molecular genetics 1993;2(5):525-34.
1993: Anu Suomalainen; P Kollmann; J N Octave; H Söderlund; Ann-Christine Syvänen
Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease.
European journal of human genetics : EJHG 1993;1(1):88-95.
1992: Anu Suomalainen; A Paetau; H Leinonen; A Majander; Leena Peltonen; Hannu Somer
Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA.
Lancet 1992;340(8831):1319-20.
1992: Anu Suomalainen; A Majander; M Haltia; Hannu Somer; J Lönnqvist; Marja-Liisa Savontaus; Leena Peltonen
Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia.
The Journal of clinical investigation 1992;90(1):61-6.
1992: Anu Suomalainen
PCR in the analysis of mutations in mitochondrial DNA.
Annals of medicine 1992;24(3):201-5.
1992: Matti Haltia; Anu Suomalainen; A Majander; Hannu Somer
Disorders associated with multiple deletions of mitochondrial DNA.
Brain pathology (Zurich, Switzerland) 1992;2(2):133-9.
1992: Helena Pihko; Anu Suomalainen; A Majander; T Wallden
[Short stature and calcium deposits in the brain of an 8-year-old girl].
Duodecim; lääketieteellinen aikakauskirja 1992;108(6):603-6.
1992: Helena Pihko; Anu Suomalainen; Hannu Somer; Matti Haltia; A Majander
[Mitochondrial diseases].
Duodecim; lääketieteellinen aikakauskirja 1992;108(6):578-90.
1991: A Majander; Anu Suomalainen; Kim Vettenranta; Hannu Sariola; Mikko Perkkiö; Christer Holmberg; Helena Pihko
Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion.
Pediatric research 1991;30(4):327-30.