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Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

Archive ouverte | Marzin, Pauline | CCSD

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Archive ouverte | Cali, Elisa | CCSD

International audience. PurposeThis study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelo...

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Archive ouverte | Shashi, Vandana | CCSD

International audience. A set of glutamylases and deglutamylases controls levels of tubulin polyglutamylation, a prominent post-translational modification of neuronal microtubules. Defective tubulin polyglutamylatio...

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