KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

Stephan Klebe, Alexander Lossos, Hamid Azzedine, Emeline Mundwiller, Ruth Sheffer, Marion Gaussen, Cécilia Marelli, Magdalena Nawara, Wassila Carpentier, Vincent Meyer,

European Journal of Human Genetics · 2012 · 157 citations · 21 references

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