D Arkadir A Noreau J S Goldman G A Rouleau R N Alcvalay
10.1111/ene.12284
Eur J Neurol
2014;21(1):e2.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/25133278/
Membrane Proteins / genetics Spastic Paraplegia, Hereditary / genetics
Membrane Proteins / genetics Spastic Paraplegia, Hereditary / genetics Case Reports Letter Adolescent Humans Middle Aged Pedigree Point Mutation Young Adult Membrane Proteins NIPA1 protein, human
PMC4138605
25133278
Pure hereditary spastic paraplegia due to a de novo mutation in the NIPA1 gene
2014