A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)-Reference-Cited by-同舟云学术

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A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

Published:2011-07-28 Issue:4 Volume:12 Page:333-336
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Alazami Anas M.,Adly Nouran,Al Dhalaan Hisham,Alkuraya Fowzan S.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10048-011-0291-8

Reference12 articles.

1. Salinas S, Proukakis C, Crosby A, Warner TT (2008) Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 7(12):1127–1138. doi: 10.1016/S1474-4422(08)70258-8

2. Fink JK (1993) Hereditary spastic paraplegia overview

3. Blackstone C, O’Kane CJ, Reid E (2011) Hereditary pastic paraplegias: membrane traffic and the motor pathway. Nat Rev Neurosci 12(1):31–42. doi: 10.1038/nrn2946

4. Alkuraya FS (2010) Autozygome decoded. Genet Med 12(12):765–771

5. Al-Yahyaee S, Al-Gazali LI, De Jonghe P, Al-Barwany H, Al-Kindi M, De Vriendt E, Chand P, Koul R, Jacob PC, Gururaj A, Sztriha L, Parrado A, Van Broeckhoven C, Bayoumi RA (2006) A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. Neurology 66(8):1230–1234. doi: 10.1212/01.wnl.0000208501.52849.dd

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3. Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability;Neurological Sciences;2024-03-01

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