REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31-Reference-Cited by-同舟云学术

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

Published:2008-03-05 Issue:4 Volume:131 Page:1078-1086
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Beetz Christian,Schüle Rebecca,Deconinck Tine,Tran-Viet Khanh-Nhat,Zhu Hui,Kremer Berry P.H.,Frints Suzanna G.M.,van Zelst-Stams Wendy A.G.,Byrne Paula,Otto Susanne,Nygren Anders O.H.,Baets Jonathan,Smets Katrien,Ceulemans Berten,Dan Bernard,Nagan Narasimhan,Kassubek Jan,Klimpe Sven,Klopstock Thomas,Stolze Henning,Smeets Hubert J.M.,Schrander-Stumpel Constance T.R.M.,Hutchinson Michael,van de Warrenburg Bart P.,Braastad Corey,Deufel Thomas,Pericak-Vance Margaret,Schöls Ludger,de Jonghe Peter,Züchner Stephan

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/131/4/1078/16694966/awn026.pdf

Reference27 articles.

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3. Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause;Beetz;Hum Mutat,2007

4. High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia;Beetz;Neurology,2006

5. Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia;Blair;Neurogenetics,2006

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