Publications

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Author Title [ Year(Desc)]
Filters: Author is Akizu, Naiara and Keyword is Cerebellar Diseases  [Clear All Filters]
2014
Akizu, N. et al. Mutations in CSPP1 lead to classical Joubert syndrome. Am J Hum Genet 94, 80-6 (2014).
2015
Akizu, N. et al. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nat Genet 47, 528-34 (2015).
2017
Lardelli, R. M. et al. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet 49, 457-464 (2017).