Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations-Reference-Cited by-同舟云学术

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations

Published:2014-10-31 Issue:1 Volume:262 Page:173-178
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Mancini Cecilia,Nassani Stefano,Guo Yiran,Chen Yulan,Giorgio Elisa,Brussino Alessandro,Di Gregorio Eleonora,Cavalieri Simona,Lo Buono Nicola,Funaro Ada,Pizio Nicola Renato,Nmezi Bruce,Kyttala Aija,Santorelli Filippo Maria,Padiath Quasar Salem,Hakonarson Hakon,Zhang Hao,Brusco Alfredo

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-014-7553-y.pdf

Reference24 articles.

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3. Benitez BA, Alvarado D, Cai Y, Mayo K, Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, Cruchaga C (2011) Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. PLoS One 6:e267419

4. Berkovic SF, Carpenter S, Andermann F, Andermann E, Wolfe LS (1988) Kufs’ disease: a critical reappraisal. Brain 111(Pt 1):27–62

5. Bertoni A, Giuliano P, Galgani M, Rotoli D, Ulianich L, Adornetto A, Santillo MR, Porcellini A, Avvedimento VE (2011) Early and late events induced by polyQ-expanded proteins: identification of a common pathogenic property of polYQ-expanded proteins. J Biol Chem 286:4727–4741

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