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Pertti Aula

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Nina Aula; Pertti Aula
Prenatal diagnosis of free sialic acid storage disorders (SASD).
Liisa Alajoki; Tarja Varho; Kristiina Posti; Pertti Aula; Tapio Korhonen
Neurocognitive profiles in Salla disease.
Juha Mykkänen; Minna Toivonen; Maaria Kleemola; Marja-Liisa Savontaus; Olli Simell; Pertti Aula; Kirsi Huoponen
Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1).

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All Publications

2006: Nina Aula; Pertti Aula
Prenatal diagnosis of free sialic acid storage disorders (SASD).
Prenatal diagnosis 2006;26(8):655-8.
2004: Liisa Alajoki; Tarja Varho; Kristiina Posti; Pertti Aula; Tapio Korhonen
Neurocognitive profiles in Salla disease.
Developmental medicine and child neurology 2004;46(12):832-7.
2003: Juha Mykkänen; Minna Toivonen; Maaria Kleemola; Marja-Liisa Savontaus; Olli Simell; Pertti Aula; Kirsi Huoponen
Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1).
Biochemical and biophysical research communications 2003;301(4):855-61.
2002: Nina Aula; Anu Jalanko; Pertti Aula; Leena Peltonen
Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin.
Molecular genetics and metabolism 2002;77(1-2):99-107.
2002: Tarja Varho; Liisa E Alajoki; Kristiina M Posti; Tapio T Korhonen; Martin G Renlund; Samuel R G Nyman; Matti L Sillanpää; Pertti Aula
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder.
Pediatric neurology 2002;26(4):267-73.
2002: Minna Toivonen; Juha Mykkänen; Pertti Aula; Olli Simell; Marja-Liisa Savontaus; Kirsi Huoponen
Expression of normal and mutant GFP-tagged y(+)L amino acid transporter-1 in mammalian cells.
Biochemical and biophysical research communications 2002;291(5):1173-9.
2002: Anders Erikson; Nina Aula; Pertti Aula; J E Månsson
Free sialic acid storage (Salla) disease in Sweden.
Acta paediatrica (Oslo, Norway : 1992) 2002;91(12):1324-7.
2002: Kati Sipilä; Pertti Aula
Database for the mutations of the Finnish disease heritage.
Human mutation 2002;19(1):16-22.
2001: P Salomäki; Nina Aula; Vesa Juvonen; Martin Renlund; Pertti Aula
Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families.
Prenatal diagnosis 2001;21(5):354-8.
2000: O Järvinen; Marja Hietala; Anna-Mari Aalto; Maria Arvio; Antti Uutela; Pertti Aula; Helena Kääriäinen
A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria.
Clinical genetics 2000;58(6):447-54.
2000: Nina Aula; P Salomäki; R Timonen; Frans W Verheijen; G Mancini; J E Månsson; Pertti Aula; Leena Peltonen
The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
American journal of human genetics 2000;67(4):832-40.
2000: Tarja Varho; Satu Jääskeläinen; Uolevi Tolonen; Pirkko Sonninen; Leena Vainionpää; Pertti Aula; Matti Sillanpää
Central and peripheral nervous system dysfunction in the clinical variation of Salla disease.
Neurology 2000;55(1):99-104.
2000: Juha Mykkänen; David Torrents; Manuel Pineda; Marta Camps; M E Yoldi; Nina Horelli-Kuitunen; Kirsi Huoponen; M Heinonen; Jaana Oksanen; Olli Simell; Marja-Liisa Savontaus; Antonio Zorzano; Manuel Palacín; Pertti Aula
Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).
Human molecular genetics 2000;9(3):431-8.
1999: Frans W Verheijen; Elly Verbeek; Nina Aula; Cecile E M T Beerens; AC Havelaar; Marijke Joosse; Leena Peltonen; Pertti Aula; H Galjaard; Peter van der Spek; Grazia M S Mancini
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
Nature genetics 1999;23(4):462-5.
1999: Tarja Varho; Markku Komu; Pirkko Sonninen; Irma E Holopainen; Samuel R G Nyman; Tuula Manner; Matti Sillanpää; Pertti Aula; NM Lundbom
A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease.
Neurology 1999;52(8):1668-72.
1999: Päivi Lahermo; Marja-Liisa Savontaus; Pertti Sistonen; J Béres; P de Knijff; Pertti Aula; Antti Sajantila
Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami.
European journal of human genetics : EJHG 1999;7(4):447-58.
1999: David Torrents; Juha Mykkänen; Manuel Pineda; Lidia Feliubadaló; Raúl Estévez; Rafael de Cid; P Sanjurjo; Antonio Zorzano; Virginia Nunes; Kirsi Huoponen; A Reinikainen; Olli Simell; Marja-Liisa Savontaus; Pertti Aula; Manuel Palacín
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.
Nature genetics 1999;21(3):293-6.
1999: Maila Penttinen; Tuula Aärimaa; Pertti Aula
[The claw hand: first sign of a metabolic disease].
Duodecim; lääketieteellinen aikakauskirja 1999;115(3):289-93.
1999: Sanna Valkonen; Marja Hietala; Marja-Liisa Savontaus; Pertti Aula
Origin of Finnish mutations causing aspartylglucosaminuria.
Hereditas 1999;131(3):191-5.
1999: T Lauteala; Juha Mykkänen; Nina Horelli-Kuitunen; Jaakko Aaltonen; P Paavola; Marja-Liisa Savontaus; Olli Simell; Pertti Aula
Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11.
Hereditas 1999;130(1):19-24.
1999: H Suhonen-Polvi; Tarja Varho; Liisa Metsähonkala; L Haataja; Ulla Ruotsalainen; Merja Haaparanta; Jörgen Bergman; Olof Solin; Tuula Aärimaa; Irma E Holopainen; Leena Vainionpää; Tuula Manner; Satu Jääskeläinen; Martin Renlund; Matti Sillanpää; Pertti Aula
Increased brain glucose utilization in Salla disease (free sialic acid storage disorder).
Journal of nuclear medicine : official publication, Society of Nuclear Medicine 1999;40(1):12-8.
1998: T Lauteala; Juha Mykkänen; Maria Pia Sperandeo; P Gasparini; Marja-Liisa Savontaus; Olli Simell; Generoso Andria; Gianfranco Sebastio; Pertti Aula
Genetic homogeneity of lysinuric protein intolerance.
European journal of human genetics : EJHG 1998;6(6):612-5.
1998: Piia Jallinoja; A Hakonen; Arja R Aro; P Niemelä; Marja Hietala; Jouko Lönnqvist; L Peltonen; Pertti Aula
Attitudes towards genetic testing: analysis of contradictions.
Social science & medicine (1982) 1998;46(10):1367-74.
1998: K Silander; P Meretoja; Vesa Juvonen; Jaakko Ignatius; Helena Pihko; Anne Saarinen; T Wallden; Eila Herrgård; Pertti Aula; Marja-Liisa Savontaus
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
Human mutation 1998;12(1):59-68.
1997: P Meretoja; K Silander; Hannu Kalimo; Pertti Aula; A Meretoja; Marja-Liisa Savontaus
Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland.
Neuromuscular disorders : NMD 1997;7(8):529-32.
1997: Tarja Lamminen; Kirsi Huoponen; Pertti Sistonen; Vesa Juvonen; Päivi Lahermo; Pertti Aula; Eeva Nikoskelainen; Marja-Liisa Savontaus
mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy.
European journal of human genetics : EJHG 1997;5(5):271-9.
1997: Arja R Aro; A Hakonen; Marja Hietala; J Lönnqvist; P Niemelä; L Peltonen; Pertti Aula
Acceptance of genetic testing in a general population: age, education and gender differences.
Patient education and counseling 1997;32(1-2):41-9.
1997: K Silander; P Meretoja; Helena Pihko; Vesa Juvonen; Jouni Issakainen; Pertti Aula; Marja-Liisa Savontaus
Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.
Human genetics 1997;100(3-4):391-7.
1997: A Majander; Tarja Lamminen; Vesa Juvonen; Pertti Aula; Eeva Nikoskelainen; Marja-Liisa Savontaus; Mårten Wikström
Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases.
FEBS letters 1997;412(2):351-4.
1997: T Lauteala; Nina Horelli-Kuitunen; E Closs; M I Savontaus; Mari Lukkarinen; Olli Simell; J Cunningham; A Palotie; Pertti Aula
Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance.
Human genetics 1997;100(1):80-3.
1997: T Lauteala; Pertti Sistonen; Marja-Liisa Savontaus; Juha Mykkänen; J Simell; Mari Lukkarinen; Olli Simell; Pertti Aula
Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.
American journal of human genetics 1997;60(6):1479-86.
1997: Maila Penttinen; K M Niemi; H Vinkka-Puhakka; R Johansson; Pertti Aula
New progeroid disorder.
American journal of medical genetics 1997;69(2):182-7.
1997: A Laitinen; Marja Hietala; James C Haworth; M L Schroeder; LORNE SEARGEANT; Cheryl R Greenberg; Pertti Aula
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.
Clinical genetics 1997;51(3):174-8.
1997: Vesa Juvonen; Eeva Nikoskelainen; Tarja Lamminen; Maila Penttinen; Pertti Aula; Marja-Liisa Savontaus
Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy.
Human mutation 1997;9(5):412-7.
1996: P Leppänen; J Isosomppi; J Schleutker; Pertti Aula; Leena Peltonen
A physical map of the 6q14-q15 region harboring the locus for the lysosomal membrane sialic acid transport defect.
Genomics 1996;37(1):62-7.
1996: Marja Hietala; Pertti Aula; Ann-Christine Syvänen; A Isoniemi; Leena Peltonen; A Palotie
DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices.
Clinical chemistry 1996;42(9):1398-404.
1996: Päivi Lahermo; Antti Sajantila; Pertti Sistonen; M Lukka; Pertti Aula; Leena Peltonen; Marja-Liisa Savontaus
The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA.
American journal of human genetics 1996;58(6):1309-22.
1996: Pertti Aula; Marja Hietala; P Niemelä; Arja R Aro; A Hakonen; Leena Peltonen
[Attitudes toward genetic testing in Finland].
Duodecim; lääketieteellinen aikakauskirja 1996;112(2):95-102.
1996: K Silander; P Meretoja; Eva Nelis; Vincent Timmerman; Christine Van Broeckhoven; Pertti Aula; Marja-Liisa Savontaus
A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients.
Human mutation 1996;8(4):304-10.
1996: J Schleutker; Pertti Sistonen; Pertti Aula
Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.
Journal of medical genetics 1996;33(1):36-41.
1995: J Schleutker; P Leppänen; J E Månsson; A Erikson; J Weissenbach; Leena Peltonen; Pertti Aula
Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.
American journal of human genetics 1995;57(4):893-901.
1995: M Laan; K Grön-Virta; A Salo; Pertti Aula; Leena Peltonen; Aarno Palotie; Ann-Christine Syvänen
Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number.
Human genetics 1995;96(3):275-80.
1995: Marja Hietala; A Hakonen; Arja R Aro; P Niemelä; Leena Peltonen; Pertti Aula
Attitudes toward genetic testing among the general population and relatives of patients with a severe genetic disease: a survey from Finland.
American journal of human genetics 1995;56(6):1493-500.
1995: J Schleutker; A P Laine; L Haataja; M Renlund; J Weissenbach; Pertti Aula; Leena Peltonen
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.
Genomics 1995;27(2):286-92.
1995: Tarja Lamminen; A Majander; Vesa Juvonen; Mårten Wikström; Pertti Aula; Eeva Nikoskelainen; M L Savontous
A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy.
American journal of human genetics 1995;56(5):1238-40.
1995: A Isoniemi; Marja Hietala; Pertti Aula; Anu Jalanko; Leena Peltonen
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.
Human mutation 1995;5(4):318-26.
1994: L Haataja; R Parkkola; Pirkko Sonninen; S L Vanhanen; J Schleutker; Tuula Aärimaa; U Turpeinen; M Renlund; Pertti Aula
Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder.
Neuropediatrics 1994;25(5):238-44.
1994: L Haataja; J Schleutker; A P Laine; M Renlund; Marja-Liisa Savontaus; C Dib; J Weissenbach; Leena Peltonen; Pertti Aula
The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.
American journal of human genetics 1994;54(6):1042-9.
1994: Pertti Aula; J Leisti
[From identification of mutation to population screening].
Duodecim; lääketieteellinen aikakauskirja 1994;110(7):749-56.
1994: Kirsi Huoponen; Vesa Juvonen; A Iitiä; P Dahlen; H Siitari; Pertti Aula; Eeva Nikoskelainen; Marja-Liisa Savontaus
Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy.
Human mutation 1994;3(1):29-36.
1993: Kirsi Huoponen; Tarja Lamminen; Vesa Juvonen; Pertti Aula; Eeva Nikoskelainen; Marja-Liisa Savontaus
The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.
Human genetics 1993;92(4):379-84.
1993: Vesa Juvonen; J Vilkki; Pertti Aula; Eeva Nikoskelainen; Marja-Liisa Savontaus
Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)
American journal of human genetics 1993;53(1):289-92.
1993: Marja Hietala; K Grön; Ann-Christine Syvänen; Leena Peltonen; Pertti Aula
Prospects of carrier screening of aspartylglucosaminuria in Finland.
European journal of human genetics : EJHG 1993;1(4):296-300.
1992: Marja-Liisa Savontaus; Kirsi Huoponen; A Majander; Pertti Aula; Eeva Nikoskelainen
Gene defects in Leber hereditary optic neuroretinopathy.
Biochimica et biophysica acta 1992;1101(2):204-5.
1992: Ann-Christine Syvänen; E Ikonen; T Manninen; M Bengtström; Hans Söderlund; Pertti Aula; Leena Peltonen
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.
Genomics 1992;12(3):590-5.
1992: L Haataja; J Schleutker; M Renlund; Aarno Palotie; Leena Peltonen; Pertti Aula
Exclusion map of Salla disease: attempts to localize the disease gene using a computer program.
Human genetics 1992;88(3):298-300.
1991: E Ikonen; Pertti Aula; K Grön; O Tollersrud; R Halila; T Manninen; Ann-Christine Syvänen; Leena Peltonen
Spectrum of mutations in aspartylglucosaminuria.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(24):11222-6.
1991: J Schleutker; L Haataja; M Renlund; L Puhakka; J Viitala; Leena Peltonen; Pertti Aula
Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.
Human genetics 1991;88(1):95-7.
1991: Kirsi Huoponen; J Vilkki; Pertti Aula; Eeva Nikoskelainen; Marja-Liisa Savontaus
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.
American journal of human genetics 1991;48(6):1147-53.
1991: J Vilkki; J Ott; Marja-Liisa Savontaus; Pertti Aula; Eeva Nikoskelainen
Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.
American journal of human genetics 1991;48(3):486-91.
1991: E Ikonen; M Baumann; K Grön; Ann-Christine Syvänen; N Enomaa; R Halila; Pertti Aula; Leena Peltonen
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.
The EMBO journal 1991;10(1):51-8.
1991: L Palotie; E Ikonen; Ann-Christine Syvänen; R Halila; N Enomaa; T Heiskanen; K Grön; Pertti Aula
[Molecular genetics of aspartylglucosaminuria].
Duodecim; lääketieteellinen aikakauskirja 1991;107(23-24):1916-25.
1990: Kirsi Huoponen; J Vilkki; Marja-Liisa Savontaus; Pertti Aula; Eeva Nikoskelainen
Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy.
Genomics 1990;8(3):583-5.
1990: K Grön; Pertti Aula; Leena Peltonen
Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4.
Human genetics 1990;85(2):233-6.
1990: J Mäenpää; E Lindahl; Pertti Aula; Marja-Liisa Savontaus
Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis.
Clinical genetics 1990;37(2):141-7.
1989: M Baumann; Leena Peltonen; Pertti Aula; Nisse Kalkkinen
Isolation of a human hepatic 60 kDa aspartylglucosaminidase consisting of three non-identical polypeptides.
The Biochemical journal 1989;262(1):189-94.
1989: E Nikoskelainen; Maila Penttinen; E Lindahl; V Sonninen; I Kantola; Pertti Aula
[Fabry's disease--a polymorphic generalized disease].
Duodecim; lääketieteellinen aikakauskirja 1989;105(15):1322-8.
1987: M Renlund; Pertti Aula
Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes.
American journal of medical genetics 1987;28(2):377-84.
1986: Pertti Aula; M Renlund; K O Raivio; S L Koskela
Screening of inherited oligosaccharidurias among mentally retarded patients in northern Finland.
Journal of mental deficiency research 1986;30 ( Pt 4)():365-8.
1983: M Renlund; Pertti Aula; K O Raivio; S Autio; K Sainio; J Rapola; S L Koskela
Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism.
Neurology 1983;33(1):57-66.
1981: Pertti Aula; M Renlund; K Raivio; S Autio; S L Koskela; J Rapola
[Salla disease - a new inherited Finnish disease].
Duodecim; lääketieteellinen aikakauskirja 1981;97(2):59-69.