Anna Kowalska

Summary

Affiliation: Polish Academy of Sciences
Country: Poland

Publications

  1. ncbi request reprint [The beta-amyloid cascade hypothesis: a sequence of events leading to neurodegeneration in Alzheimer's disease]
    Anna Kowalska
    Instytut Genetyki Człowieka, PAN w Poznaniu, Poznan, Poland
    Neurol Neurochir Pol 38:405-11. 2004
  2. ncbi request reprint [Searching for Tourette's syndrome gene. Part 2. Patient's genome variability]
    Anna Kowalska
    Zakład Funkcji Kwasów Nukleinowych, Instytut Genetyki Człowieka PAN, ul Strzeszyńka 32, Poznan
    Postepy Hig Med Dosw (Online) 66:89-95. 2012
  3. ncbi request reprint [Searching for Tourette's syndrome gene. Part 1. Heterogeneity of clinical phenotypes]
    Anna Kowalska
    Zakład Funkcji Kwasów Nukleinowych, Instytut Genetyki Człowieka PAN, ul Strzeszyńka 32, Poznan
    Postepy Hig Med Dosw (Online) 66:85-8. 2012
  4. ncbi request reprint [The genetics of dementias. Part 2: The biology of Alzheimer's disease]
    Anna Kowalska
    Instytut Genetyki Człowieka PAN w Poznaniu, 60 479 Poznan
    Postepy Hig Med Dosw (Online) 63:287-95. 2009
  5. ncbi request reprint [The genetics of dementias. Part 1: Molecular basis of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)]
    Anna Kowalska
    Instytut Genetyki Człowieka PAN w Poznaniu, 60 479 Poznan
    Postepy Hig Med Dosw (Online) 63:278-86. 2009
  6. ncbi request reprint Genetic aspects of amyloid beta-protein fibrillogenesis in Alzheimer's disease
    Anna Kowalska
    Institute of Human Genetics, Polish Academy of Sciences, Poznan
    Folia Neuropathol 42:235-7. 2004
  7. ncbi request reprint [Genetic counseling and testing for families with Alzheimer's disease]
    Anna Kowalska
    Instytut Genetyki Człowieka PAN, Poznan
    Neurol Neurochir Pol 38:495-501. 2004
  8. ncbi request reprint Progressive supranuclear palsy--parkinsonian disorder with tau pathology
    Anna Kowalska
    Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
    Folia Neuropathol 42:119-23. 2004
  9. ncbi request reprint Genetic analysis in patients with familial and sporadic frontotemporal dementia: two tau mutations in only familial cases and no association with apolipoprotein epsilon4
    A Kowalska
    Department of Demyelinating Disease and Aging, National Institute of Neuroscience, NCNP, Tokyo, Japan
    Dement Geriatr Cogn Disord 12:387-92. 2001
  10. ncbi request reprint Presenilin 1 mutations in Polish families with early-onset Alzheimer's disease
    Anna Kowalska
    Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
    Folia Neuropathol 42:9-14. 2004

Detail Information

Publications20

  1. ncbi request reprint [The beta-amyloid cascade hypothesis: a sequence of events leading to neurodegeneration in Alzheimer's disease]
    Anna Kowalska
    Instytut Genetyki Człowieka, PAN w Poznaniu, Poznan, Poland
    Neurol Neurochir Pol 38:405-11. 2004
    ..In this paper, we reviewed recent findings supporting the presented hypothesis...
  2. ncbi request reprint [Searching for Tourette's syndrome gene. Part 2. Patient's genome variability]
    Anna Kowalska
    Zakład Funkcji Kwasów Nukleinowych, Instytut Genetyki Człowieka PAN, ul Strzeszyńka 32, Poznan
    Postepy Hig Med Dosw (Online) 66:89-95. 2012
    ..Recently, rare structural variants of different genes involved in neurodevelopment determined by recurrent exonic copy number variations (CNVs) have been found in a subset of patients suffering from GTS...
  3. ncbi request reprint [Searching for Tourette's syndrome gene. Part 1. Heterogeneity of clinical phenotypes]
    Anna Kowalska
    Zakład Funkcji Kwasów Nukleinowych, Instytut Genetyki Człowieka PAN, ul Strzeszyńka 32, Poznan
    Postepy Hig Med Dosw (Online) 66:85-8. 2012
    ..Progress in studies on genome variability among patients with GTS is necessary to improve pharmacotherapeutic strategies of the disorder...
  4. ncbi request reprint [The genetics of dementias. Part 2: The biology of Alzheimer's disease]
    Anna Kowalska
    Instytut Genetyki Człowieka PAN w Poznaniu, 60 479 Poznan
    Postepy Hig Med Dosw (Online) 63:287-95. 2009
    ....
  5. ncbi request reprint [The genetics of dementias. Part 1: Molecular basis of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)]
    Anna Kowalska
    Instytut Genetyki Człowieka PAN w Poznaniu, 60 479 Poznan
    Postepy Hig Med Dosw (Online) 63:278-86. 2009
    ..The imbalance in the ratio of the synthesized 3R and 4R tau isoforms stimulates protein aggregation and initiates neurodegeneration, leading to the development of dementia...
  6. ncbi request reprint Genetic aspects of amyloid beta-protein fibrillogenesis in Alzheimer's disease
    Anna Kowalska
    Institute of Human Genetics, Polish Academy of Sciences, Poznan
    Folia Neuropathol 42:235-7. 2004
    ..This finding may explain the particularly strong association of Abeta42 with AD. We have reviewed molecular effects of APP and Presenilin mutations responsible for FAD in both Abeta metabolism and formation of Abeta fibril...
  7. ncbi request reprint [Genetic counseling and testing for families with Alzheimer's disease]
    Anna Kowalska
    Instytut Genetyki Człowieka PAN, Poznan
    Neurol Neurochir Pol 38:495-501. 2004
    ..The APOE4 allele may only confer greater risk for disease, but its presence is not conclusive for the development of AD...
  8. ncbi request reprint Progressive supranuclear palsy--parkinsonian disorder with tau pathology
    Anna Kowalska
    Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
    Folia Neuropathol 42:119-23. 2004
    ..Moreover, we discuss how these DNA polymorphisms may influence the exon 10 splicing, and thus the proportion of 4R/3R tau isoforms, leading to a class II tau pathology in PSP patients...
  9. ncbi request reprint Genetic analysis in patients with familial and sporadic frontotemporal dementia: two tau mutations in only familial cases and no association with apolipoprotein epsilon4
    A Kowalska
    Department of Demyelinating Disease and Aging, National Institute of Neuroscience, NCNP, Tokyo, Japan
    Dement Geriatr Cogn Disord 12:387-92. 2001
    ..Tau mutations were not found in subjects with a negative family history suggesting that tau mutations do not account for most sporadic cases of FTD. We also found no association of apolipoprotein E4 allele with FTD...
  10. ncbi request reprint Presenilin 1 mutations in Polish families with early-onset Alzheimer's disease
    Anna Kowalska
    Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
    Folia Neuropathol 42:9-14. 2004
    ..The variation was also absent from other 53 patients and 48 controls. Therefore, we could not confirm the previous suggestion that the Glu318Gly substitution may be a risk factor for AD...
  11. ncbi request reprint Amyloid precursor protein gene analysis in familial Alzheimer's disease cases: a lack of mutations in exons 16 and 17
    Anna Kowalska
    Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
    Folia Neuropathol 42:1-7. 2004
    ..We did not find pathogenic mutations within exons 16 and 17 of the APP gene. Our study confirmed that APP gene mutations account only for a very small portion of FAD...
  12. ncbi request reprint Genetic study of familial cases of Alzheimer's disease
    Anna Kowalska
    Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
    Acta Biochim Pol 51:245-52. 2004
    ..Although a frequency of PS1 mutations is less than 2% in the whole population of AD patients, their detection has a significant diagnostic value for both genetic counseling and treatment in families with AD...
  13. ncbi request reprint Familial amyotrophic lateral sclerosis and parkinsonism-dementia complex--tauopathy without mutations in the tau gene?
    Anna Kowalska
    Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
    Folia Neuropathol 41:59-64. 2003
    ..The lack of mutations in the tau gene not only in this patient but also in earlier reported cases of ALS in the Western Pacific seems to suggest that other genetic factors may be contributing to ALS/PDC...
  14. ncbi request reprint Amyloid precursor protein gene mutations responsible for early-onset autosomal dominant Alzheimer's disease
    Anna Kowalska
    Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
    Folia Neuropathol 41:35-40. 2003
    ..In this paper, all APP mutations have been summarised and their molecular effects on the APP metabolism have been discussed...
  15. ncbi request reprint Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Poznań region
    Anna Kowalska
    Institute of Human Genetics, Polish Academy of Sciences, ul Strzeszynska 32, 60 479 Poznan
    J Appl Genet 44:231-4. 2003
    ..The frequency of PS1 mutations was 11% (5 of 55) in the whole sample of the patients with EOAD or 50% (3 of 6) if the analysis was restricted to familial cases with a positive history of dementia in the patient's family...
  16. ncbi request reprint Microtubule associated protein (tau) gene variability in patients with frontotemporal dementia
    Anna Kowalska
    Institute of Human Genetics, Polish Academy of Sciences, Poznan
    Folia Neuropathol 40:1-5. 2002
    ..Therefore there should exist additionalgenetic and non-genetic factors contributing to the pathogenesis of both familial (linked and non-linked to chromosome 17) and sporadic forms of FTD...
  17. ncbi request reprint Molecular genetics of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
    Anna Kowalska
    Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
    Folia Neuropathol 40:111-8. 2002
    ..The mutations have multiple effects on the biology and function of tau. These varied pathogenic mechanisms most likely explain the wide range of clinical and neuropathological features observed in different families with FTDP-17...
  18. ncbi request reprint A novel mutation at position +11 in the intron following exon 10 of the tau gene in FTDP-17
    Anna Kowalska
    Institute of Human Genetics, Polish Academy of Sciences, ul Strzeszynska 32, 60 479 Poznan, Poland
    J Appl Genet 43:535-43. 2002
    ..Our study confirmed that the T --> C 3'E10 +11 mutation, as the other 5' splice site mutations of tau exon 10, modifies alternative splicing of exon 10...
  19. ncbi request reprint Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment
    Cezary Zekanowski
    Department of Neurodegenerative Disorders, Medical Research Center, Polish Academy of Sciences, Pawinskiego 5, 02 106 Warszawa, Poland
    Exp Neurol 200:82-8. 2006
    ..We also propose that PSEN1 mutations should be considered in FTD patients with no MAPT mutations...
  20. ncbi request reprint Genetic basis of neurodegeneration in familial Alzheimer's disease
    Anna Kowalska
    Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, PL 60 479 Poznan, Poland
    Pol J Pharmacol 56:171-8. 2004
    ..Finding specific inhibitors of the Abeta42 generation is a major goal of AD drug development programs now and the key challenge for the treatment of the most devasting disease of human brain...