| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 3039840 | Clinical Neurology and Neurosurgery | 2015 | 4 Pages |
Abstract
- The mutations in the SPAST gene have wide spectrum of clinical phenomenology.
- We report 2 novel mutations (c.1732A>T p.R578X and c.1334G>C p.S445T).
- The age at onset is quite different with some differences in phenomenology, as well.
- This report would contribute to the setting up of genotype-phenotype correlations.
- These correlations would serve the better understanding of the function of spastin.
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Authors
Dénes Zádori, Adrienn Máté, Krisztina Róna-Vörös, Gyurgyinka Gergev, AlÃz Zimmermann, Nikoletta Nagy, Márta Széll, László Vécsei, László Sztriha, Péter Klivényi,