Article
Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy.
European journal of neurology - 1 Sept 2021
Subréville Marie, Bonello-Palot Nathalie, Yahiaoui Douniazed, Beloribi-Djefaflia Sadia, Fernandes Sara, Stojkovic Tanya, Cassereau Julien, Péréon Yann, Echaniz-Laguna Andoni, Violleau Marie-Hélène, Soulages Antoine, Louis Sarah Léonard, Masingue Marion, Magot Armelle, Delmont Emilien, Sacconi Sabrina, Adams David, Labeyrie Céline, Genestet Steeve, Noury Jean-Baptiste, Chanson Jean-Baptiste, Lévy Nicolas, Juntas-Morales Raul, Tard Céline, Sole Guilhem, Attarian Shahram
Abstract excerpt
BACKGROUND AND PURPOSE: Preparations for clinical trials of unfolded protein response (UPR) inhibitors (such as Sephin1) that target the upregulated UPR in patients with Charcot-Marie-Tooth disease (CMT) carrying MPZ mutations are currently underway. The inclusion criteria for these trials are still being formulated. Our objective was to characterize the relation between genotypes and phenotypes in patients with...
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