SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia-Reference-Cited by-同舟云学术

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia

Published:2016-06-23 Issue:10 Volume:61 Page:845-850
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Mészárosová Anna Uhrová,Putzová Martina,Čermáková Marie,Vávrová Dagmar,Doležalová Kateřina,Smetanová Irena,Stejskal David,Beetz Christian,Seeman Pavel

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg201673.pdf

Reference22 articles.

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2. Fink, J. K. Hereditary spastic paraplegia. Curr. Neurol. Neurosci. Rep. 6, 65–76 (2006).

3. Hensiek, A., Kirker, S. & Reid, E. Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing. J. Neurol. 262, 1601–1612 (2015).

4. Hazan, J., Fonknechten, N., Mavel, D., Paternotte, C., Samson, D., Artiguenave, F. et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat. Genet. 23, 296–303 (1999).

5. Kasher, P. R., De Vos, K. J., Wharton, S. B., Manser, C., Bennett, E. J., Bingley, M. et al. Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients. J. Neurochem. 110, 34–44 (2009).

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