Publications

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Author Title [ Year(Desc)]
Filters: Author is Deleuze, Jean-François  [Clear All Filters]
2016
O'Grady, G. L. et al. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. Am J Hum Genet 99, 1086-1105 (2016).
2018
Guissart, C. et al. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet 102, 744-759 (2018).
2019
Lornage, X. et al. ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). Acta Neuropathol 137, 501-519 (2019).