Hereditary spastic paraplegia: Genetic heterogeneity and common pathways
Author:
Funder
Ministry of Health
University of Perugia
Publisher
Elsevier BV
Subject
Developmental Neuroscience,Neurology
Reference188 articles.
1. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature;Abou Jamra;Am. J. Hum. Genet.,2011
2. Developmental outcomes of Aicardi Goutières syndrome;Adang;J. Child Neurol.,2020
3. A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis;Ahmed;Brain.,2017
4. A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18);Alazami;Neurogen.,2011
5. A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy;Al-Yahyaee;Neurol.,2006
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