Publications by authors named "M Tusseau"

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Development of a functional assay for the characterisation of variants from the French haemorrhagic hereditary telangiectasia cohort.
Louane Despas, Lea Vialet, Maud Tusseau, Valentin Azemard, Lea Beurier-Soulat

J Med Genet· November 2025

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A new digenic inheritance of proteasome-associated autoinflammatory syndrome involving the PSMA6 gene.
Déborah Méchin, Maud Tusseau, Martin Broly, Damien Sanlaville, Sébastien Viel

J Allergy Clin Immunol Pract· November 2025

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A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis.
Sophie Wolfgramm, Sara Alehashemi, Martin Wendlandt, Franziska G Thiel, Adriana A de Jesus, Maud Tusseau

Ann Rheum Dis· November 2025

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Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome.
Clémence David, Nadia Nathan, Eslam Al-Abadi, Peter D Arkwright, Brigitte Bader-Meunier, Maud Tusseau

Ann Rheum Dis· October 2025

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Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia.
Carole Proust, Clémence Deiber, Caroline Meguerditchian, Maud Tusseau, Alexandre Guilhem

Commun Biol· July 2025

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