title: De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling.
authors: Department of Medical-Surgical Sciences and Biotechnologies, Polo Pontino-Sapienza University of Rome, Latina, Italy.
authors: Luca
authors: L
authors: Leonardi
authors: Christian
authors: C
authors: Marcotulli
authors: Filippo M
authors: FM
authors: Santorelli
authors: Alessandra
authors: A
authors: Tessa
authors: Carlo
authors: C
authors: Casali
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D003937:Diagnosis, Differential; D019204:GTP-Binding Proteins / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000503:physiopathology*
chemical_list: D008565:Membrane Proteins; C440006:ATL1 protein, human; D019204:GTP-Binding Proteins
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