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 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
  3. doi 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
  4. 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
  5. doi 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
  6. 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
  7. 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
  8. 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
  9. ncbi [Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results]
    Maria Jedrzejowska
    Instytut Medycyny Doswiadczalnej i Klinicznej, Polska Akademia Nauk, Pawinskiego 5, 02 106 Warszawa, Poland
    Med Wieku Rozwoj 8:651-61. 2004
  10. doi 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

Publications15

  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 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...
  3. doi 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...
  4. 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...
  5. doi 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...
  6. 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...
  7. 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...
  8. 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...
  9. ncbi [Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results]
    Maria Jedrzejowska
    Instytut Medycyny Doswiadczalnej i Klinicznej, Polska Akademia Nauk, Pawinskiego 5, 02 106 Warszawa, Poland
    Med Wieku Rozwoj 8:651-61. 2004
    ..Caused in 96.5% by deletion in the SMN1 gene. Owing to the homogeneity of the molecular defect. Secondary prophylaxis can readily be offered to families at risk of SMA...
  10. doi 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. doi SMN1 gene duplications are more frequent in patients with progressive muscular atrophy
    Magdalena Kuzma-Kozakiewicz
    Department of Neurology, Medical University of Warsaw, 1a Banacha, Warsaw, Poland
    Amyotroph Lateral Scler Frontotemporal Degener 14:457-62. 2013
    ..There were no significant differences in the SMN2 copy numbers. In conclusion, the increased copy number of SMN1 may be a susceptibility factor to PMA and influence the clinical phenotype...
  12. ncbi Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients
    Maria Jedrzejowska
    Neuromuscular Unit, Mossakowski Medical Research Centre Polish Academy of Sciences, Warsaw, Poland Electronic address
    Neuromuscul Disord 24:617-23. 2014
    ..In patients with preserved one SMN1 allele without common exon 7 deletion, presenting a mild form of SMA, a special consideration should be given to the p.Thr274Ile mutation. ..
  13. ncbi Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells
    Maria Jedrzejowska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland Electronic address
    Eur J Paediatr Neurol 18:183-92. 2014
    ..As the IGHMBP2 gene is characterized by significant heterogeneity, genetic counseling of affected families is rendered more complex. IGHMBP2 protein deficiency can lead to the degeneration of nuclei, in both muscle and Schwann cells. ..
  14. ncbi Might prepatterned acetylcholine-receptor clusters on surface myotubes be a sign of neuromuscular-junction maturation failure?
    Anna Fidzianska
    Anna Fidziańska, Neuromuscular Unit, Mossakowski Medical Research Center, Polish Academy of Science, 5 Pawinskiego St, 02 106 Warsaw, Poland, phone fax 48 22 608 65 47, E mail
    Folia Neuropathol 51:319-23. 2013
    ..The aim of this study is to present the ultrastructural features of muscle and motor-junction immaturity severe enough to lead to death in the first months of life...
  15. doi 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...