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List of works by Pascale Bomont

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

scientific journal article

GAN (gigaxonin) E3 ligase and ATG16L1: master and commander of autophagosome production

scientific article published on 16 June 2019

Gigaxonin E3 ligase governs ATG16L1 turnover to control autophagosome production

scientific article published in Nature Communications

Identification of seven novel mutations in the GAN gene.

scientific article

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

scientific article

Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy

scientific article published on 01 December 2019

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