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Title

Assessing the role of TUBA4A gene in frontotemporal degeneration

AuthorsDols-Icardo, Oriol; Valdivia, Jessica; Cardona, Fernando ; Pérez-Tur, Jordi ; Clarimón, Jordi
Issue Date5-Nov-2015
PublisherElsevier
CitationNeurobiology of Aging 38:215.e13-4 (2016)
AbstractThe tubulin alpha 4a (TUBA4A) gene has been recently associated with amyotrophic lateral sclerosis. Interestingly, some of the mutation carriers were also diagnosed with frontotemporal degeneration (FTD) or mild cognitive impairment. With the aim to investigate the role of TUBA4A in FTD, we screened TUBA4A in a series of 814 FTD patients from Spain. Our data did not disclose any nonsense or missense variant in the cohort, thus suggesting that TUBA4A mutations are not associated with FTD.
The tubulin alpha 4a (TUBA4A) gene has been recently associated with amyotrophic lateral sclerosis. Interestingly, some of the mutation carriers were also diagnosed with frontotemporal degeneration (FTD) or mild cognitive impairment. With the aim to investigate the role of TUBA4A in FTD, we screened TUBA4A in a series of 814 FTD patients from Spain. Our data did not disclose any nonsense or missense variant in the cohort, thus suggesting that TUBA4A mutations are not associated with FTD.
DescriptionDols-Icardo, O. et al. Assessing the role of TUBA4A gene in frontotemporal degeneration. Neurobiology of Aging 38:215.e13-4 (2016). Artículo: 2 páginas y 1 tabla como material suplementario
Publisher version (URL)http://dx.doi.org/10.1016/j.neurobiolaging.2015.10.030
URIhttp://hdl.handle.net/10261/131402
DOI10.1016/j.neurobiolaging.2015.10.030
ISSN0197-4580
E-ISSN1558-1497
Appears in Collections:(IBV) Artículos
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