Výsledky vyhledávání - "Tim Ratzlaff"

Mutation Detection in Machado-Joseph Disease Using Repeat Expansion Detection

Autor: Cecilia Zander, Astrid Lunkes, Martin Schalling, Patrícia Maciel, Alexis Brice, Giovanni Stevanin, Guy A. Rouleau, K. Lindblad, Tim Ratzlaff, Georg Auburger, Thomas Klockgether, Thomas J. Hudson

Publikováno v: Molecular Medicine. 2:77-85

Several neurological disorders have recently been explained through the discovery of expanded DNA repeat sequences. Among these is Machado-Joseph disease, one of the most common spinocerebellar ataxias (MJD/SCA3), caused by a CAG repeat expansion on

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::69743fdbd02856b0edbdc324beedf75e
https://doi.org/10.1007/bf03402204

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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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