Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference55 articles.
1. The hereditary spastic paraplegias;Reid;J Neurol,1999
2. Hereditary spastic paraplegias: an update;Depienne;Curr Opin Neurol,2007
3. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms;Salinas;Lancet Neurol,2008
4. Spastin and microtubules: functions in health and disease;Salinas;J Neurosci Res,2007
5. Distinct intracellular vesicle transport mechanisms are selectively modified by spastin and spastin mutations;Fürst;J Cell Physiol,2011
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