Genomes and Genes
Affiliation: Institute of Psychiatry and Neurology
- [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...
- Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13Jacek 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...
- Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control groupAnna 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...
- Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxiaMarta Rajkiewicz
Zakład Genetyki, Instytut Psychiatrii i Neurologii, ul Sobieskiego 9, 02 957 Warsaw
Neurol Neurochir Pol 42:497-504. 2008....
- Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 geneAnna Sułek-Piatkowska
Instytut Psychiatrii i Neurologii, Zak 3 ad Genetyki, Al Sobieskiego 9, 02 957 Warszawa
Neurol Neurochir Pol 42:203-9. 2008....
- Unaffected patients with a homozygous absence of the SMN1 geneMaria 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...
- The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patientsAnna 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...
- [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....
- CAG repeat polymorphism in the androgen receptor (AR) gene of SBMA patients and a control groupAnna 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...
- [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...
- [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...
- Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutationsBogna 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...
- 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...
- SCA8 repeat expansion coexists with SCA1--not only with SCA6Anna Sulek
Am J Hum Genet 73:972-4. 2003
- [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...
- Genetic analysis of candidate genes modifying the age-at-onset in Huntington's diseaseSilke 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...
- A phenotypic-genetic study of a group of Polish patients with spinal and bulbar muscular atrophyBarbara 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...
- The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's diseaseSilke 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...
- [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...
- The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 geneAllison 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...
- Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonismPatricia 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...
- Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigreesHartmut 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...
- [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...
- [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...