Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene-Reference-Cited by-同舟云学术

Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene

Published:2013-03-02 Issue:7 Volume:260 Page:1765-1769
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Bot Susanne T.,Vermeer Sascha,Buijsman Wendy,Heister Angelien,Voorendt Marsha,Verrips Aad,Scheffer Hans,Kremer Hubertus P. H.,Warrenburg Bart P. C.,Kamsteeg Erik-Jan

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-013-6870-x.pdf

Reference12 articles.

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2. Derivery E, Sousa C, Gautier JJ, Lombard B, Loew D, Gautreau A (2009) The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex. Dev Cell 17:712–723

3. Clemen CS, Tangavelou K, Strucksberg KH, Just S, Gaertner L, Regus-Leidig H, Stumpf M, Reimann J, Coras R, Morgan RO, Fernandez MP, Hofmann A, Muller S, Schoser B, Hanisch FG, Rottbauer W, Blumcke I, von Horsten S, Eichinger L, Schroder R (2010) Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. Brain 133:2920–2941

4. de Bot ST, Schelhaas HJ, Kamsteeg EJ, van de Warrenburg BP (2012) Hereditary spastic paraplegia caused by a mutation in the VCP gene. Brain 135:e223

5. Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA (2007) Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet 80:152–161

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