Maria Jedrzejowska

Summary

Affiliation: Polish Academy of Sciences
Country: Poland

Publications

  1. ncbi [Spinal muscular atrophy: SMN protein deficiency]
    M Jedrzejowska
    Neurol Neurochir Pol 35:289-97. 2001
  2. ncbi Incidence of spinal muscular atrophy in Poland--more frequent than predicted?
    Maria Jedrzejowska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    Neuroepidemiology 34:152-7. 2010
  3. ncbi Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease
    Maria Jedrzejowska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland
    Acta Biochim Pol 56:103-8. 2009
  4. ncbi Unaffected patients with a homozygous absence of the SMN1 gene
    Maria Jedrzejowska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    Eur J Hum Genet 16:930-4. 2008
  5. ncbi Homozygous deletion in the SMN1 gene in asymptomatic individual - genetic counselling issues in SMA-risk families
    Maria Jedrzejowska
    Zespół Nerwowo Mieśniowy, Instytut Medycyny Doświadczalnej i Klinicznej im M Mossakowskiego, Warszawa
    Med Wieku Rozwoj 15:126-31. 2011
  6. ncbi [Pseudodominant inheritance of spinal muscular atrophy--father and son suffering from SMA]
    Maria Jedrzejowska
    Zespół Badawczo Leczniczy Chorób Nerwowo Mieśniowych, Instytut Medycyny Doświadczanej i Klinicznej PAN, ul Pawinskiego 5, 02 106 Warszawa
    Neurol Neurochir Pol 40:446-9. 2006
  7. ncbi Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA)
    Maria Jedrzejowska
    Neuromuscular Unit, Medical Research Centre, Polish Academy of Science, Warsaw
    Neurol Neurochir Pol 39:89-94. 2005
  8. ncbi [Identification of T274I mutation in the SMN1 gene in a patient with spinal muscular atrophy]
    Maria Jedrzejowska
    Zespol Badawczo Leczniczy Chorob Nerwowo Miesniowych, Instytut Medycyny Doswiadczalnej i Klinicznej, Banacha 1a, 02 097 Warszawa, Poland
    Med Wieku Rozwoj 6:319-27. 2002
  9. ncbi [Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results]
    Maria Jedrzejowska
    , Polska Akademia Nauk, , 02-106 Warszawa, Poland
    Med Wieku Rozwoj 8:651-61. 2004
  10. ncbi A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3)
    Maria Jedrzejowska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, ul Pawinskiego 5, 02 106 Warsaw, Poland
    Neuromuscul Disord 18:339-41. 2008

Collaborators

Detail Information

Publications11

  1. ncbi [Spinal muscular atrophy: SMN protein deficiency]
    M Jedrzejowska
    Neurol Neurochir Pol 35:289-97. 2001
    ..The SMN protein level was shown to be 100-fold reduced in spinal cord of SMA 1 patients...
  2. ncbi Incidence of spinal muscular atrophy in Poland--more frequent than predicted?
    Maria Jedrzejowska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    Neuroepidemiology 34:152-7. 2010
    ..It allows for reliable epidemiological studies which are of importance to demography and genetic counseling...
  3. ncbi Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease
    Maria Jedrzejowska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland
    Acta Biochim Pol 56:103-8. 2009
    ..In three patients, we observed genotypes atypical for the chronic forms of SMA: two patients with SMA3a and 3b had a deletion of the NAIP gene, and a third patient with SMA2 had one copy of the SMN2 gene...
  4. ncbi Unaffected patients with a homozygous absence of the SMN1 gene
    Maria Jedrzejowska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    Eur J Hum Genet 16:930-4. 2008
    ..Our findings as well as those of other authors show that an increased number of SMN2 copies in healthy carriers of the biallelic SMN1 deletion is an important SMA phenotype modifier, but probably not the only one...
  5. ncbi Homozygous deletion in the SMN1 gene in asymptomatic individual - genetic counselling issues in SMA-risk families
    Maria Jedrzejowska
    Zespół Nerwowo Mieśniowy, Instytut Medycyny Doświadczalnej i Klinicznej im M Mossakowskiego, Warszawa
    Med Wieku Rozwoj 15:126-31. 2011
    ..It also meets inclusion criteria as regards optional invasive prenatal diagnostic testing in families with a high (.25%) risk of the condition being present in the off spring...
  6. ncbi [Pseudodominant inheritance of spinal muscular atrophy--father and son suffering from SMA]
    Maria Jedrzejowska
    Zespół Badawczo Leczniczy Chorób Nerwowo Mieśniowych, Instytut Medycyny Doświadczanej i Klinicznej PAN, ul Pawinskiego 5, 02 106 Warszawa
    Neurol Neurochir Pol 40:446-9. 2006
    ..In both father and son, genetic analysis showed biallelic deletion of exons 7 and 8 in the SMN1 gene. The boy's mother is a carrier of the deletion at the SMA locus. Quantitative analysis revealed one copy of the SMN1 gene...
  7. ncbi Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA)
    Maria Jedrzejowska
    Neuromuscular Unit, Medical Research Centre, Polish Academy of Science, Warsaw
    Neurol Neurochir Pol 39:89-94. 2005
    ..The aim of our study was to estimate the frequency of the common biallelic exon 7 SMN1 deletion in our Polish SMA cohort and implement a test for assessing a molecular defect at the SMN1 locus versus defects in the other genes...
  8. ncbi [Identification of T274I mutation in the SMN1 gene in a patient with spinal muscular atrophy]
    Maria Jedrzejowska
    Zespol Badawczo Leczniczy Chorob Nerwowo Miesniowych, Instytut Medycyny Doswiadczalnej i Klinicznej, Banacha 1a, 02 097 Warszawa, Poland
    Med Wieku Rozwoj 6:319-27. 2002
    ..All patients fulfilling the diagnostic criteria for SMA, as defined by the International SMA Consortium, without deletion of exon SMN1 gene, should be analysed using direct sequencing...
  9. ncbi [Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results]
    Maria Jedrzejowska
    , Polska Akademia Nauk, , 02-106 Warszawa, Poland
    Med Wieku Rozwoj 8:651-61. 2004
    ..The negative result should he then interpreted individually. Until the carrier test will not he introduced to routine procedures. prenatal diagnosis can be also offered to families at relatively low risk of SMA...
  10. ncbi A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3)
    Maria Jedrzejowska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, ul Pawinskiego 5, 02 106 Warsaw, Poland
    Neuromuscul Disord 18:339-41. 2008
    ..Her electrophysiological testing showed chronic neurogenic changes in proximal muscles that are typical for SMA, but also slowed conduction velocity in motor and sensory fibers that is typical for demyelinating neuropathy...
  11. ncbi Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy
    Lars Brichta
    Institute of Human Genetics, and Center for Molecular Medicine Cologne, University of Cologne, Kerpener Str 34, 50931, Cologne, Germany
    Hum Genet 123:141-53. 2008
    ..This study provides first evidence that NMD of SMN1 transcripts is responsible for the molecular basis of disease in a subset of SMA patients...