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- Title
TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.
- Authors
Pensato, Viviana; Tiloca, Cinzia; Corrado, Lucia; Bertolin, Cinzia; Sardone, Valentina; Bo, Roberto; Calini, Daniela; Mandrioli, Jessica; Lauria, Giuseppe; Mazzini, Letizia; Querin, Giorgia; Ceroni, Mauro; Cantello, Roberto; Corti, Stefania; Castellotti, Barbara; Soldà, Giulia; Duga, Stefano; Comi, Giacomo; Cereda, Cristina; Sorarù, Gianni
- Abstract
The article reports on the identification of novel TUBA4A gene variants in patients with sporadic amyotrophic lateral scierosis (SALS) in Italy. Topics discussed include the cause and clinical characteristics of ALS, the result of functional studies on TUBA4A mutations, and details of the findings of the mutational sceening of the Italian patients.
- Subjects
GENETICS of amyotrophic lateral sclerosis; NEUROMUSCULAR diseases; GENES; GENETIC mutation; GENETIC testing; GENETICS; PHYSIOLOGY
- Publication
Journal of Neurology, 2015, Vol 262, Issue 5, p1376
- ISSN
0340-5354
- Publication type
Letter
- DOI
10.1007/s00415-015-7739-y