P. Aula

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Aliases
Pertti P Aula, P. P. Aula, Pertti Aula, P Aula, P P Aula, P. Aula
Publication record
185 papers · 6,192 citations · H-index 40

PAPERS

The Finnish Disease Heritage Database (FinDis) Update—A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next‐Generation Sequencing Era
201331 citationsauthor #10
Haplotype analysis inprenatal diagnosis and carrier identification ofSalla disease
20110 citationsauthor #3
Virus-induced premature chromosome condensation (PCC) in single cells and G-bands of PCC-chromatin.
200910 citationsauthor #1
Electron-microscopic observations on Sendai virus-induced chromosome pulverization in HeLa cells.
200918 citationsauthor #1
Chromosome damage associated with the measles virus in vitro.
200985 citationsauthor #5
Chromosome Breaks in Leukocytes of Chickenpox Patients. Preliminary communication
20095 citationsauthor #1
EARLY MORPHOLOGY OF THE CHROMOSOME DAMAGE INDUCED BY SENDAI VIRUS
20091 citationsauthor #1
Extreme chromosome breakage induced by measles virus in different in vitro systems. Preliminary communication
20096 citationsauthor #3
Chromosome damage associated with the measles virus in vitro.
200985 citationsauthor #6
THE KARYOTYPE OF THE ELK (ALCES ALCES)
20093 citationsauthor #1
Banding characteristics of paracentric marker constrictions in human chromosomes.
200911 citationsauthor #1
Screening of inherited oligosaccharidurias among mentally retarded patients in northern Finland.
200823 citationsauthor #1
Prenatal diagnosis of free sialic acid storage disorders (SASD)
200614 citationsauthor #2
Optic Atrophy in Leber Hereditary Optic Neuroretinopathy
20060 citationsauthor #4
A deletion in chromosome 22 can cause digeorge syndrome
2004206 citationsauthor #4
Exclusion map of Salla disease: attempts to localize the disease gene using a computer program
20041 citationsauthor #6
Characterization of the Lysinuric Protein Intolerance (LPI) Region within T‐cell Receptor α/δ Gene Cluster on Chromosome Site 14qll
20040 citationsauthor #8
Origin of Finnish mutations causing aspartylglucosaminuria.
20047 citationsauthor #4
Neurocognitive profiles in Salla disease
20048 citationsauthor #4
Neurocognitive profiles in Salla disease.
200414 citationsauthor #4
Identification of cells from fetal bladder epithelium in human amniotic fluid
200415 citationsauthor #2
The 11q;22q translocation: A European collaborative analysis of 43 cases
2004115 citationsauthor #6
Improved technique for the expression of fragile-X in cultured amniotic fluid cells
20040 citationsauthor #2
Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1).
200311 citationsauthor #6
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder.
200248 citationsauthor #8
Expression of normal and mutant GFP-tagged y(+)L amino acid transporter-1 in mammalian cells.
200220 citationsauthor #3
Free sialic acid storage (Salla) disease in Sweden
200221 citationsauthor #3
Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin.
200237 citationsauthor #3
Database for the mutations of the Finnish disease heritage
200234 citationsauthor #2
Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families
200114 citationsauthor #5
A retrospective study of long‐term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria
200029 citationsauthor #6
Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).
200073 citationsauthor #14
Central and peripheral nervous system dysfunction in the clinical variation of Salla disease
200040 citationsauthor #6
The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
2000115 citationsauthor #7
A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease
199952 citationsauthor #8
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
1999292 citationsauthor #8
Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami
199983 citationsauthor #6
Increased brain glucose utilization in Salla disease (free sialic acid storage disorder).
199911 citationsauthor #16
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene
1999314 citationsauthor #14
Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11.
19990 citationsauthor #8
[The claw hand: first sign of a metabolic disease].
19990 citationsauthor #3
[From avoidance of proteins to amino acid transporter gene--a long journey of lysinuric protein intolerance].
19990 citationsauthor #1
Spectrum of mutations in Finnish patients with Charcot‐Marie‐Tooth disease and related neuropathies
199890 citationsauthor #9
Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy
199722 citationsauthor #5
Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland.
1997116 citationsauthor #4
Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis.
199741 citationsauthor #8
Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance
19979 citationsauthor #9
Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance
199734 citationsauthor #6
Mutations in subunit 6 of the F1F0‐ATP synthase cause two entirely different diseases
199725 citationsauthor #4
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation
199711 citationsauthor #7
Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.
199753 citationsauthor #8
mtDNA Haplotype Analysis in Finnish Families with Leber Hereditary Optic Neuroretinopathy
199766 citationsauthor #6
The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mitochondrial mtDNA
19964 citationsauthor #5
[Attitudes toward genetic testing in Finland].
19961 citationsauthor #1
A physical map of the 6q14-q15 region harboring the locus for the lysosomal membrane sialic acid transport defect.
199619 citationsauthor #4
TheGenetic Relationship between theFinns andtheFinnish Saami (Lapps): Analysis ofNuclear DNA andmtDNA
19961 citationsauthor #5
DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices.
199618 citationsauthor #2
A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine—Sottas syndrome patients
199625 citationsauthor #6
The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA.
1996132 citationsauthor #5
Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.
19969 citationsauthor #3
Attitudes toward genetic testing among the general population and relatives of patients with a severe genetic disease: a survey from Finland.
1995114 citationsauthor #6
Genes and languages in Europe: an analysis of mitochondrial lineages.
1995262 citationsauthor #7
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene
199535 citationsauthor #3
Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number
19957 citationsauthor #4
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.
199575 citationsauthor #5
Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.
199526 citationsauthor #6
Time‐resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy
19949 citationsauthor #6
Phenotypic Variation and Magnetic Resonance Imaging (MRI) in Salla Disease, a Free Sialic Acid Storage Disorder
199451 citationsauthor #9
Transabdominal chorionic villus sampling and amniocentesis for prenatal diagnosis: 5 years' experience at a University Centre
199417 citationsauthor #5
[From identification of mutation to population screening].
19940 citationsauthor #1
Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)
199343 citationsauthor #3
Prospects of Carrier Screening of Aspartylglucosaminuria in Finland
199331 citationsauthor #5
The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy
199359 citationsauthor #4
Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuria
19938 citationsauthor #4
[Carnitine deficiency and severe nausea-induced thiamine deficiency causing a metabolic crisis].
19920 citationsauthor #5
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.
1992138 citationsauthor #6
Gene defects in Leber hereditary optic neuroretinopathy.
19920 citationsauthor #4
LOCALIZATION OF THE GENE DEFECT IN SALLA DISEASE - A FREE SIALIC-ACID STORAGE DISORDER
19914 citationsauthor #6
[Molecular genetics of aspartylglucosaminuria].
19917 citationsauthor #8
[Genetic screening--part of tomorrow's medicine].
19910 citationsauthor #1
Sialic acid storage disorders: observations on clinical and biochemical variation.
199120 citationsauthor #5
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.
1991402 citationsauthor #3
Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease
19911 citationsauthor #7
Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.
1991153 citationsauthor #4
Spectrum of mutations in aspartylglucosaminuria.
199146 citationsauthor #2
Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1.
1991130 citationsauthor #11
Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.
199173 citationsauthor #3
Molecular pathology of finnish and non-finnish patients with aspartylglucosaminuria
19910 citationsauthor #2
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.
1991131 citationsauthor #7
Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy.
199012 citationsauthor #4
Prenatal diagnosis in Pelizaeus‐Merzbacher disease using RFLP analysis
199016 citationsauthor #3
Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4
19904 citationsauthor #2
[Fabry's disease--a polymorphic generalized disease].
19890 citationsauthor #6
First‐trimester prenatal diagnosis of aspartylglucosaminuria
19898 citationsauthor #1
Isolation of a human hepatic 60 kDa aspartylglucosaminidase consisting of three non-identical polypeptides.
198913 citationsauthor #3
[Ethical problems in fetal diagnosis].
19880 citationsauthor #1
PRENATAL DIAGNOSIS OF SALLA DISEASE (SD)
19870 citationsauthor #2
Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes.
198717 citationsauthor #2
[Diagnosis of lysosomal storage diseases].
19860 citationsauthor #1
Second trimester prenatal diagnosis of the fragile X.
198616 citationsauthor #2

TIMELINE

1961 9 citations

1962 6 citations

1963 31 citations

1964 33 citations

1965 18 citations

1966 14 citations

1967 98 citations

1968 10 citations

1969 0 citations

1970 0 citations

1971 1 citations

1972 12 citations

1973 94 citations

1974 61 citations

1975 44 citations

1976 188 citations

1977 89 citations

1978 62 citations

1979 191 citations

1980 107 citations

1981 130 citations

1982 17 citations

1983 123 citations

1984 284 citations

1985 90 citations

1986 43 citations

1987 17 citations

1988 0 citations

1989 21 citations

1990 32 citations

1991 967 citations

1992 138 citations

1993 141 citations

1994 77 citations

1995 519 citations

1996 209 citations

1997 377 citations

1998 90 citations

1999 752 citations

2000 257 citations

2001 14 citations

2002 160 citations

2003 11 citations

2004 366 citations

2006 14 citations

2008 23 citations

2009 139 citations

2011 0 citations

2013 31 citations

P. Aula

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