Publications

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Author Title [ Year(Desc)]
Filters: Author is Desguerre, Isabelle  [Clear All Filters]
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).
2019
Pant, D. C. et al. Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. J Clin Invest 129, 1240-1256 (2019).
2021
Kour, S. et al. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun 12, 2558 (2021).