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Pertti Aula

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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

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2006: Aula Nina; Aula Pertti
Prenatal diagnosis of free sialic acid storage disorders (SASD).
Prenatal diagnosis 2006;26(8):655-8.
2004: Alajoki Liisa; Varho Tarja; Posti Kristiina; Aula Pertti; Korhonen Tapio
Neurocognitive profiles in Salla disease.
Developmental medicine and child neurology 2004;46(12):832-7.
2003: Mykkänen Juha; Toivonen Minna; Kleemola Maaria; Savontaus Marja-Liisa; Simell Olli; Aula Pertti; Huoponen Kirsi
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: Aula Nina; Jalanko Anu; Aula Pertti; Peltonen Leena
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: Varho Tarja T; Alajoki Liisa E; Posti Kristiina M; Korhonen Tapio T; Renlund Martin G; Nyman Samuel R G; Sillanpää Matti L; Aula Pertti P
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder.
Pediatric neurology 2002;26(4):267-73.
2002: Toivonen Minna; Mykkänen Juha; Aula Pertti; Simell Olli; Savontaus Marja-Liisa; Huoponen Kirsi
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: Sipilä Kati; Aula Pertti
Database for the mutations of the Finnish disease heritage.
Human mutation 2002;19(1):16-22.
2002: Erikson A; Aula N; Aula P; Månsson J E
Free sialic acid storage (Salla) disease in Sweden.
Acta paediatrica (Oslo, Norway : 1992) 2002;91(12):1324-7.
2001: Salomäki P; Aula N; Juvonen V; Renlund M; Aula P
Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families.
Prenatal diagnosis 2001;21(5):354-8.
2000: Järvinen O; Hietala M; Aalto A M; Arvio M; Uutela A; Aula P; Kääriäinen H
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: Aula N; Salomäki P; Timonen R; Verheijen F; Mancini G; Månsson J E; Aula P; Peltonen L
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: Varho T; Jääskeläinen S; Tolonen U; Sonninen P; Vainionpää L; Aula P; Sillanpää M
Central and peripheral nervous system dysfunction in the clinical variation of Salla disease.
Neurology 2000;55(1):99-104.
2000: Mykkänen J; Torrents D; Pineda M; Camps M; Yoldi M E; Horelli-Kuitunen N; Huoponen K; Heinonen M; Oksanen J; Simell O; Savontaus M L; Zorzano A; Palacín M; Aula P
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: Verheijen F W; Verbeek E; Aula N; Beerens C E; Havelaar A C; Joosse M; Peltonen L; Aula P; Galjaard H; van der Spek P J; Mancini G M
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
Nature genetics 1999;23(4):462-5.
1999: Lahermo P; Savontaus M L; Sistonen P; Béres J; de Knijff P; Aula P; Sajantila A
Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami.
European journal of human genetics : EJHG 1999;7(4):447-58.
1999: Varho T; Komu M; Sonninen P; Holopainen I; Nyman S; Manner T; Sillanpää M; Aula P; Lundbom N
A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease.
Neurology 1999;52(8):1668-72.
1999: Torrents D; Mykkänen J; Pineda M; Feliubadaló L; Estévez R; de Cid R; Sanjurjo P; Zorzano A; Nunes V; Huoponen K; Reinikainen A; Simell O; Savontaus M L; Aula P; Palacín M
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.
Nature genetics 1999;21(3):293-6.
1999: Suhonen-Polvi H; Varho T; Metsähonkala L; Haataja L; Ruotsalainen U; Haaparanta M; Bergman J; Solin O; Aärimaa T; Holopainen I; Vainionpää L; Manner T; Jääskeläinen S; Renlund M; Sillanpää M; Aula P
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.
1999: Penttinen M; Aärimaa T; Aula P
[The claw hand: first sign of a metabolic disease]
Duodecim; lääketieteellinen aikakauskirja 1999;115(3):289-93.
1999: Valkonen S; Hietala M; Savontaus M L; Aula P
Origin of Finnish mutations causing aspartylglucosaminuria.
Hereditas 1999;131(3):191-5.
1999: Lauteala T; Mykkänen J; Horelli-Kuitunen N; Aaltonen J; Paavola P; Savontaus M L; Simell O; Aula P
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.
1998: Lauteala T; Mykkänen J; Sperandeo M P; Gasparini P; Savontaus M L; Simell O; Andria G; Sebastio G; Aula P
Genetic homogeneity of lysinuric protein intolerance.
European journal of human genetics : EJHG 1998;6(6):612-5.
1998: Jallinoja P; Hakonen A; Aro A R; Niemelä P; Hietala M; Lönnqvist J; Peltonen L; Aula P
Attitudes towards genetic testing: analysis of contradictions.
Social science & medicine (1982) 1998;46(10):1367-74.
1998: Silander K; Meretoja P; Juvonen V; Ignatius J; Pihko H; Saarinen A; Wallden T; Herrgård E; Aula P; Savontaus M L
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
Human mutation 1998;12(1):59-68.
1997: Meretoja P; Silander K; Kalimo H; Aula P; Meretoja A; Savontaus M L
Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland.
Neuromuscular disorders : NMD 1997;7(8):529-32.
1997: Lamminen T; Huoponen K; Sistonen P; Juvonen V; Lahermo P; Aula P; Nikoskelainen E; Savontaus M L
mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy.
European journal of human genetics : EJHG 1997;5(5):271-9.
1997: Aro A R; Hakonen A; Hietala M; Lönnqvist J; Niemelä P; Peltonen L; Aula P
Acceptance of genetic testing in a general population: age, education and gender differences.
Patient education and counseling 1997;32(1-2):41-9.
1997: Silander K; Meretoja P; Pihko H; Juvonen V; Issakainen J; Aula P; Savontaus M L
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: Majander A; Lamminen T; Juvonen V; Aula P; Nikoskelainen E; Savontaus M L; Wikström M
Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases.
FEBS letters 1997;412(2):351-4.
1997: Lauteala T; Horelli-Kuitunen N; Closs E; Savontaus M I; Lukkarinen M; Simell O; Cunningham J; Palotie A; Aula P
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: Lauteala T; Sistonen P; Savontaus M L; Mykkänen J; Simell J; Lukkarinen M; Simell O; Aula P
Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.
American journal of human genetics 1997;60(6):1479-86.
1997: Laitinen A; Hietala M; Haworth J C; Schroeder M L; Seargeant L E; Greenberg C R; Aula P
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.
Clinical genetics 1997;51(3):174-8.
1997: Penttinen M; Niemi K M; Vinkka-Puhakka H; Johansson R; Aula P
New progeroid disorder.
American journal of medical genetics 1997;69(2):182-7.
1997: Juvonen V; Nikoskelainen E; Lamminen T; Penttinen M; Aula P; Savontaus M L
Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy.
Human mutation 1997;9(5):412-7.
1996: Leppänen P; Isosomppi J; Schleutker J; Aula P; Peltonen L
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: Hietala M; Aula P; Syvänen A C; Isoniemi A; Peltonen L; Palotie A
DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices.
Clinical chemistry 1996;42(9):1398-404.
1996: Lahermo P; Sajantila A; Sistonen P; Lukka M; Aula P; Peltonen L; Savontaus M L
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: Schleutker J; Sistonen P; Aula P
Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.
Journal of medical genetics 1996;33(1):36-41.
1996: Aula P; Hietala M; Niemelä P; Aro A R; Hakonen A; Peltonen L
[Attitudes toward genetic testing in Finland]
Duodecim; lääketieteellinen aikakauskirja 1996;112(2):95-102.
1996: Silander K; Meretoja P; Nelis E; Timmerman V; Van Broeckhoven C; Aula P; Savontaus M L
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.
1995: Schleutker J; Leppänen P; Månsson J E; Erikson A; Weissenbach J; Peltonen L; Aula P
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: Laan M; Grön-Virta K; Salo A; Aula P; Peltonen L; Palotie A; Syvänen A C
Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number.
Human genetics 1995;96(3):275-80.
1995: Hietala M; Hakonen A; Aro A R; Niemelä P; Peltonen L; Aula P
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: Lamminen T; Majander A; Juvonen V; Wikström M; Aula P; Nikoskelainen E; Savontous M L
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: Schleutker J; Laine A P; Haataja L; Renlund M; Weissenbach J; Aula P; Peltonen L
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.
Genomics 1995;27(2):286-92.
1995: Isoniemi A; Hietala M; Aula P; Jalanko A; Peltonen L
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.
Human mutation 1995;5(4):318-26.
1994: Haataja L; Parkkola R; Sonninen P; Vanhanen S L; Schleutker J; Aärimaa T; Turpeinen U; Renlund M; Aula P
Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder.
Neuropediatrics 1994;25(5):238-44.
1994: Haataja L; Schleutker J; Laine A P; Renlund M; Savontaus M L; Dib C; Weissenbach J; Peltonen L; Aula P
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: Aula P; Leisti J
[From identification of mutation to population screening]
Duodecim; lääketieteellinen aikakauskirja 1994;110(7):749-56.
1994: Huoponen K; Juvonen V; Iitiä A; Dahlen P; Siitari H; Aula P; Nikoskelainen E; Savontaus M L
Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy.
Human mutation 1994;3(1):29-36.
1993: Huoponen K; Lamminen T; Juvonen V; Aula P; Nikoskelainen E; Savontaus M L
The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.
Human genetics 1993;92(4):379-84.
1993: Juvonen V; Vilkki J; Aula P; Nikoskelainen E; Savontaus M L
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: Hietala M; Grön K; Syvänen A C; Peltonen L; Aula P
Prospects of carrier screening of aspartylglucosaminuria in Finland.
European journal of human genetics : EJHG 1993;1(4):296-300.
1992: Savontaus M L; Huoponen K; Majander A; Aula P; Nikoskelainen E K
Gene defects in Leber hereditary optic neuroretinopathy.
Biochimica et biophysica acta 1992;1101(2):204-5.
1992: Syvänen A C; Ikonen E; Manninen T; Bengtström M; Söderlund H; Aula P; Peltonen L
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: Haataja L; Schleutker J; Renlund M; Palotie A; Peltonen L; Aula P
Exclusion map of Salla disease: attempts to localize the disease gene using a computer program.
Human genetics 1992;88(3):298-300.
1991: Ikonen E; Aula P; Grön K; Tollersrud O; Halila R; Manninen T; Syvänen A C; Peltonen L
Spectrum of mutations in aspartylglucosaminuria.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(24):11222-6.
1991: Schleutker J; Haataja L; Renlund M; Puhakka L; Viitala J; Peltonen L; Aula P
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: Huoponen K; Vilkki J; Aula P; Nikoskelainen E K; Savontaus M L
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.
American journal of human genetics 1991;48(6):1147-53.
1991: Vilkki J; Ott J; Savontaus M L; Aula P; Nikoskelainen E K
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: Ikonen E; Baumann M; Grön K; Syvänen A C; Enomaa N; Halila R; Aula P; Peltonen L
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.
The EMBO journal 1991;10(1):51-8.
1991: Palotie L; Ikonen E; Syvänen A C; Halila R; Enomaa N; Heiskanen T; Grön K; Aula P
[Molecular genetics of aspartylglucosaminuria]
Duodecim; lääketieteellinen aikakauskirja 1991;107(23-24):1916-25.
1990: Huoponen K; Vilkki J; Savontaus M L; Aula P; Nikoskelainen E K
Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy.
Genomics 1990;8(3):583-5.
1990: Grön K; Aula P; Peltonen L
Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4.
Human genetics 1990;85(2):233-6.
1990: Mäenpää J; Lindahl E; Aula P; Savontaus M L
Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis.
Clinical genetics 1990;37(2):141-7.
1989: Baumann M; Peltonen L; Aula P; Kalkkinen N
Isolation of a human hepatic 60 kDa aspartylglucosaminidase consisting of three non-identical polypeptides.
The Biochemical journal 1989;262(1):189-94.
1989: Nikoskelainen E; Penttinen M; Lindahl E; Sonninen V; Kantola I; Aula P
[Fabry's disease--a polymorphic generalized disease]
Duodecim; lääketieteellinen aikakauskirja 1989;105(15):1322-8.
1987: Renlund M; Aula P
Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes.
American journal of medical genetics 1987;28(2):377-84.
1986: Aula P; Renlund M; Raivio K O; Koskela S L
Screening of inherited oligosaccharidurias among mentally retarded patients in northern Finland.
Journal of mental deficiency research 1986;30 ( Pt 4)():365-8.
1983: Renlund M; Aula P; Raivio K O; Autio S; Sainio K; Rapola J; Koskela S L
Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism.
Neurology 1983;33(1):57-66.
1981: Aula P; Renlund M; Raivio K; Autio S; Koskela S L; Rapola J
[Salla disease - a new inherited Finnish disease]
Duodecim; lääketieteellinen aikakauskirja 1981;97(2):59-69.

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Pertti Aula

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