Jacek Zaremba

Summary

Affiliation: Institute of Psychiatry and Neurology
Country: Poland

Publications

  1. ncbi request reprint [Rapid-onset dystonia-parkinsonism]
    Jacek Zaremba
    Zakład Genetyki, Instytut Psychiatrii i Neurologii, Warszawa
    Przegl Lek 62:1296-7. 2005
  2. ncbi request reprint Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13
    Jacek Zaremba
    Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland
    Mov Disord 19:1506-10. 2004
  3. ncbi request reprint Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group
    Anna Sułek
    Department of Genetics, Institute of Psychiatry and Neurology, Warszawa, Poland
    J Appl Genet 45:101-5. 2004
  4. ncbi request reprint Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia
    Marta Rajkiewicz
    Zakład Genetyki, Instytut Psychiatrii i Neurologii, ul Sobieskiego 9, 02 957 Warsaw
    Neurol Neurochir Pol 42:497-504. 2008
  5. ncbi request reprint Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene
    Anna Sułek-Piatkowska
    Instytut Psychiatrii i Neurologii, Zak 3 ad Genetyki, Al Sobieskiego 9, 02 957 Warszawa
    Neurol Neurochir Pol 42:203-9. 2008
  6. doi request reprint 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
  7. ncbi request reprint The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients
    Anna Sułek-Piatkowska
    Instytut Psychiatrii i Neurologii, Zakład Genetyki, ul Sobieskiego 9, 02 957 Warszawa
    Neurol Neurochir Pol 44:238-45. 2010
  8. ncbi request reprint [Spinocerebellar ataxias type 1 and 2: comparison of clinical, electrophysiological and magnetic resonance evaluation]
    Maria Rakowicz
    Zakład Neurofizjologii Klinicznej, Instytut Psychiatrii i Neurologii, ul Sobieskiego 9, 02 957 Warszawa
    Neurol Neurochir Pol 39:263-275. 2005
  9. ncbi request reprint CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group
    Anna Sułek
    Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02 957 Warszawa, Poland
    J Appl Genet 46:237-9. 2005
  10. ncbi request reprint [The use of non-typical materials as a source of DNA in post-mortem diagnosis of spinal muscular atrophy]
    Janusz G Zimowski
    Zakład Genetyki, Instytut Psychiatrii i Neurologii w Warszawie
    Neurol Neurochir Pol 38:21-4. 2004

Collaborators

Detail Information

Publications24

  1. ncbi request reprint [Rapid-onset dystonia-parkinsonism]
    Jacek Zaremba
    Zakład Genetyki, Instytut Psychiatrii i Neurologii, Warszawa
    Przegl Lek 62:1296-7. 2005
    ..The last year it was found that the mutated gene is the one for the NA+/K(+)-ATPase alpha3 subunit (ATP1A3), (one of the sodium pumps). One of the six families described so far was identified in Poland...
  2. ncbi request reprint Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13
    Jacek Zaremba
    Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland
    Mov Disord 19:1506-10. 2004
    ..By using haplotype analysis, we show that the family is consistent with linkage to markers on chromosome 19q13...
  3. ncbi request reprint Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group
    Anna Sułek
    Department of Genetics, Institute of Psychiatry and Neurology, Warszawa, Poland
    J Appl Genet 45:101-5. 2004
    ..As such expanded alleles were also observed in their healthy relatives, the pathogenic role of expansions in the SCA8 gene remains uncertain...
  4. ncbi request reprint Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia
    Marta Rajkiewicz
    Zakład Genetyki, Instytut Psychiatrii i Neurologii, ul Sobieskiego 9, 02 957 Warsaw
    Neurol Neurochir Pol 42:497-504. 2008
    ....
  5. ncbi request reprint Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene
    Anna Sułek-Piatkowska
    Instytut Psychiatrii i Neurologii, Zak 3 ad Genetyki, Al Sobieskiego 9, 02 957 Warszawa
    Neurol Neurochir Pol 42:203-9. 2008
    ....
  6. doi request reprint 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...
  7. ncbi request reprint The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients
    Anna Sułek-Piatkowska
    Instytut Psychiatrii i Neurologii, Zakład Genetyki, ul Sobieskiego 9, 02 957 Warszawa
    Neurol Neurochir Pol 44:238-45. 2010
    ..Molecular analysis allows particular types of SCA to be distinguished. Genetic tests are applied in 10 types of SCA resulting from dynamic mutations: SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA10, SCA12, SCA17 and DRPLA...
  8. ncbi request reprint [Spinocerebellar ataxias type 1 and 2: comparison of clinical, electrophysiological and magnetic resonance evaluation]
    Maria Rakowicz
    Zakład Neurofizjologii Klinicznej, Instytut Psychiatrii i Neurologii, ul Sobieskiego 9, 02 957 Warszawa
    Neurol Neurochir Pol 39:263-275. 2005
    ....
  9. ncbi request reprint CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control group
    Anna Sułek
    Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02 957 Warszawa, Poland
    J Appl Genet 46:237-9. 2005
    ..Normal and abnormal ranges of CAG repeats were established in the control group and in 21 patients whose clinical diagnosis of SBMA was molecularly confirmed. The ranges are similar to those reported for other populations...
  10. ncbi request reprint [The use of non-typical materials as a source of DNA in post-mortem diagnosis of spinal muscular atrophy]
    Janusz G Zimowski
    Zakład Genetyki, Instytut Psychiatrii i Neurologii w Warszawie
    Neurol Neurochir Pol 38:21-4. 2004
    ..The aim of this study was the post mortem molecular diagnosis of SMA based on samples of DNA isolated from such remnants...
  11. ncbi request reprint [Detection of rare mutations in the dystrophin gene]
    Janusz G Zimowski
    Zakład Genetyki, Instytut Psychiatrii i Neurologii, Al Sobieskiego 9, 02 957 Warszawa
    Med Wieku Rozwoj 13:140-5. 2009
    ..DMD occurs with the incidence 1:3500, BMD with the incidence of 1:18,500 new-born males. Approximately about 60% of mutations in the dystrophin gene are deletions, 10%--duplications and 30%--point mutations...
  12. ncbi request reprint Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations
    Bogna Schmidt-Sidor
    Department of Neuropathology, Institute of Psychiatry and Neurology, 9 Sobieskiego, 02 957 Warsaw, Poland
    Folia Neuropathol 47:372-82. 2009
    ..Neuropathologically both cases showed severe brain malformations with increased germinal proliferation, gross disturbances of migration and organization of the CNS...
  13. ncbi request reprint 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...
  14. pmc SCA8 repeat expansion coexists with SCA1--not only with SCA6
    Anna Sulek
    Am J Hum Genet 73:972-4. 2003
  15. ncbi request reprint [Clinical and genetic study of juvenile form of Huntington's disease]
    Elzbieta Zdzienicka
    Zakładu Genetyki, Instytutu Psychiatrii i Neurologii w Warszawie
    Neurol Neurochir Pol 36:245-58. 2002
    ..Amplitudes of somatosensory evoked potentials, visual evoked potentials and brainstem auditory evoked potentials were markedly reduced. MRI of the brain showed atrophy of heads of the caudate nuclei, putamen and globus pallidus...
  16. ncbi request reprint Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease
    Silke Metzger
    Department of Medical Genetics, University of Tubingen, Calwerstrasse 7, 72076, Tubingen, Germany
    Hum Genet 120:285-92. 2006
    ..Although some of the factors have been defined as genetic modifier factors in previous studies, none of the genes encoding GRIK2, TBP, BDNF and ZDHHC17 could be identified as a genetic modifier for HD...
  17. ncbi request reprint A phenotypic-genetic study of a group of Polish patients with spinal and bulbar muscular atrophy
    Barbara Tomik
    Department of Neurology, Jagiellonian University Medical College, 3 Botaniczna Street, 31 503 Krakow, Poland
    Amyotroph Lateral Scler 7:72-9. 2006
    ..The extended CAG repeats within families were stable...
  18. ncbi request reprint The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease
    Silke Metzger
    Department of Medical Genetics, University of Tubingen, Calwerstrasse 7, 72076 Tubingen, Germany
    Neurogenetics 7:27-30. 2006
    ..In this group, the allelic variation on locus S18Y is responsible for 1.1% of the variance in the HD age-at-onset, and the rare Y allele is associated with younger-aged cases...
  19. ncbi request reprint [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...
  20. ncbi request reprint The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene
    Allison Brashear
    Department of Neurology, Wake Forest University, Winston Salem, NC 27157, USA
    Brain 130:828-35. 2007
    ..A positive family history is not required. Genetic testing for the ATP1A3 gene is recommended when abrupt onset, rostrocaudal gradient and prominent bulbar findings are present...
  21. ncbi request reprint Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
    Patricia de Carvalho Aguiar
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Neuron 43:169-75. 2004
    ..This finding implicates the Na+/K+ pump, a crucial protein responsible for the electrochemical gradient across the cell membrane, in dystonia and parkinsonism...
  22. doi request reprint Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees
    Hartmut Engels
    Institute of Human Genetics, Bonn, Germany
    Am J Med Genet A 146:2611-6. 2008
    ..4 +/- 1.4% for male carriers. A low risk for the live birth of translocation trisomy 13 children was confirmed since no live born children with trisomy 13 or Pätau syndrome were detected in the ascertainment-corrected sample...
  23. ncbi request reprint [Genetic amniocentesis in the II Department of Obstetrics and Gynecology of the Medical University of Warsaw]
    Paweł Milewczyk
    II Katedra i Klinika Połoznictwa i Ginekologii AM w Warszawie
    Ginekol Pol 75:603-8. 2004
    ..Characteristic of patients, indications, outcomes and complications of genetic amniocentesis...
  24. ncbi request reprint [A study on the occurrence of the deletion 22q11.2 in patients affected with a psychiatric disease]
    Barbara Pawłowska
    Zakład Genetyki IPiN w Warszawie
    Psychiatr Pol 41:251-60. 2007
    ..2 among psychiatric patients and an attempt at the assessment of the degree in which this rate is influenced by the coexistence of dysmorphic features and congenital defects...