title: First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement.
authors.forename: L
authors.initials: L
authors.lastname: Sztriha
authors.forename: C
authors.initials: C
authors.lastname: Panzeri
authors.forename: R
authors.initials: R
authors.lastname: Kálmánchey
authors.forename: N
authors.initials: N
authors.lastname: Szabó
authors.forename: E
authors.initials: E
authors.lastname: Endreffy
authors.forename: S
authors.initials: S
authors.lastname: Túri
authors.forename: C
authors.initials: C
authors.lastname: Baschirotto
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
authors.forename: Z
authors.initials: Z
authors.lastname: Vekerdy
authors.forename: M T
authors.initials: MT
authors.lastname: Bassi
mesh_terms: D017668:Age of Onset; D005260:Female; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D009128:Muscle Spasticity / Q000235:genetics*; D010243:Paralysis / Q000235:genetics*
chemical_list: C438187:ALS2 protein, human; D020662:Guanine Nucleotide Exchange Factors