Identifizierung und funktionelle Analyse genetischer Modifikatoren für die Huntington-Krankheit

Autor: Metzger, Silke.

Diss. Univ. Tübingen, 2008.

Externí odkaz: http://opac.nebis.ch/cgi-bin/showAbstract.pl?sys=000253080

Genetic analysis of polymorphisms in the kalirin gene for association with age-at-onset in European Huntington disease patients

Autor: Tsai Yu-Chun, Metzger Silke, Riess Olaf, Soehn Anne S, Nguyen Huu

Publikováno v: BMC Medical Genetics, Vol 13, Iss 1, p 48 (2012)

Abstract Background Huntington disease (HD) is caused by an expanded CAG repeat in the HD gene. Although the length of the CAG repeat strongly correlates with the age-at-onset (AAO), AAO in HD individuals may differ dramatically in spite of similar e

Externí odkaz: https://doaj.org/article/4ce782e25c504e6e8519ac46c965d018

The V471A Polymorphism in Autophagy-Related Gene ATG7 Modifies Age at Onset Specifically in Italian Huntington Disease Patients.

Autor: Metzger, Silke^1,2, Walter, Carolin^1,2, Riess, Olaf^1,2, Roos, Raymund A. C.³, Nielsen, Jørgen E.^4,5, Craufurd, David⁶, Nguyen, Huu Phuc^1,2 hoa.nguyen@med.uni-tuebingen.de

Publikováno v: PLoS ONE. Jul2013, Vol. 8 Issue 7, p1-9. 9p.

Localization of sequence variations in PGC-1α influence their modifying effect in Huntington disease.

Autor: Che, Hong Van B.¹, Metzger, Silke¹, Portal, Esteban¹, Deyle, Carolin¹, Riess, Olaf¹, Huu Phuc Nguyen¹ hoa.nguyen@med.uni-tuebingen.de

Publikováno v: Molecular Neurodegeneration. 2011, Vol. 6 Issue 1, p1-7. 7p. 1 Diagram, 6 Charts.

The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

Autor: Metzger, Silke, Walter, Carolin, Riess, Olaf, Roos, Raymund A. C., Nielsen, Jørgen E., Craufurd, David, European Huntington's Disease Network, REGISTRY Investigators of the, Nguyen, Huu Phuc, Burgunder, Jean-Marc, Kaelin, Alain, Schüpbach, Michael

Publikováno v: Metzger, Silke; Walter, Carolin; Riess, Olaf; Roos, Raymund A. C.; Nielsen, Jørgen E.; Craufurd, David; European Huntington's Disease Network, REGISTRY Investigators of the; Nguyen, Huu Phuc; Burgunder, Jean-Marc; Kaelin, Alain; Schüpbach, Michael (2013). The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. PLoS ONE, 8(7), e68951. Public Library of Science 10.1371/journal.pone.0068951

The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3071::7ad7f2d2f36a7648b0690305b5b28915
https://boris.unibe.ch/53845/1/V471_POne.pdf