Výsledky vyhledávání - "Doda Rudnicki"

Identification of the physiological promoter for spinocerebellar ataxia 2 gene reveals a CpG island for promoter activity situated into the exon 1 of this gene and provides data about the origin of the nonmethylated state of these types of islands

Autor: Joachim Nowok, Jorge Aguiar, Wolfgang Schulz, Suzana Gispert, Christiane Alexander, Doda Rudnicki, Georg Auburger, Simon Santurlidis

Publikováno v: Biochemical and biophysical research communications. 254(2)

In order to further use the spinocerebellar ataxia 2 (SCA2) promoter for transgenic mice models of “CAG repeat” neurodegeneration, different fragments of this 5′ end were ligated into pGL3-Luc plasmid to obtain the better promoter-activity of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::117266917f21ca1c255366b373bbe857
https://pubmed.ncbi.nlm.nih.gov/9918835

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Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q

Autor: Georg Auburger, Claire Sophie Davoine, Caroline Paternotte, Jamilé Hazan, Alexandra Durr, Delphine Samson, Delphine Mavel, Delphine Muselet, Doda Rudnicki, Nathalie Vega-Czarny, Bertrand Fontaine, Gabor Gyapay, Catherine Marquette, Nathalie Drouot, T. Voit, Jean Weissenbach, Cécile Fizames

Publikováno v: Genome research. 8(11)

Familial spastic paraplegia (FSP) is a heterogeneous group of degenerative disorders of the central motor system characterized by progressive spasticity of the lower limbs. FSP has been classified (Sutherland 1975) according to the mode of inheritanc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cf58d7a2cfd81e2d52262ec4c380853
https://pubmed.ncbi.nlm.nih.gov/9847083

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Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution

Autor: Georg Auburger, Doda Rudnicki, Tim Ratzlaff, Kirn R. Kessler, Reiner Benecke, Barbara Leube

Publikováno v: Human molecular genetics. 5(10)

Idiopathic torsion dystonia (ITD) is a group of movement disorders which is usually inherited in an autosomal dominant manner with reduced penetrance. Most patients with ITD present with focal dystonia at adult age. However, thus far, this common sub

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8144f00b15701f4e31ab11a9146d867c
https://pubmed.ncbi.nlm.nih.gov/8894706

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