Title: | ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease |
Journal : | Brain, 139, 1 |
Authors: | Montecchiani C, Author ; Pedace L ; Lo Giudice T ; Casella A ; Mearini M ; Gaudiello F ; Pedroso JL ; Terracciano C ; Caltagirone C ; Massa R ; St-George-Hyslop PH ; Barsottini OG ; Kawarai T ; Orlacchio A |
Material Type: | Article |
Publication Date: | 2016 |
Size: | p 73 |
Languages: | English |
Keywords : | autosomal recessive inheritance ; axonopathy ; Charcot-Marie-Tooth disease ; clinical presentation ; CMT2X ; cross-sectional study ; familial spastic paraplegia ; family trees ; gene identification ; genetic linkage ; genetic mutations ; nerve biopsies ; RFLP ; spatacsin ; SPG11 gene ; theoretical models |
Keywords: | ALS5/SPG11/KIAA1840 mutations;Charcot–Marie–Tooth disease;axonal degeneration;spatacsin; |
Pubmed / DOI : | DOI : 10.1093/brain/awv320 / Pubmed : 26556829 |