The hereditary spastic paraplegias
Author:
Funder
Parkinson's Foundation
Spastic Paraplegia Foundation
Publisher
Elsevier
Reference239 articles.
1. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature;Abou-áJamra;Am J Hum Genet,2011
2. A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis;Ahmed;Brain,2017
3. A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18);Alazami;Neurogenetics,2011
4. Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly;Allan;Am J Ment Defic,1944
5. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency;Almalki;Biochim Biophys Acta,2014
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