Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis.

doi:10.1016/j.neurobiolaging.2020.10.015

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Article

Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis.

Neurobiology of aging - 1 Mar 2021

Teyssou Elisa, Muratet François, Amador Maria-Del-Mar, Ferrien Mélanie, Lautrette Géraldine, Machat Selma, Boillée Séverine, Larmonier Thierry, Saker Safaa, Leguern Eric, Cazeneuve Cécile, Marie Yannick, Guegan Justine, Gyorgy Beata, Cintas Pascal, Meininger Vincent, Le Forestier Nadine, Salachas François, Couratier Philippe, Camu William, Seilhean Danielle, Millecamps Stéphanie

Abstract excerpt

ANXA11 mutations have previously been discovered in amyotrophic lateral sclerosis (ALS) motor neuron disease. To confirm the contribution of ANXA11 mutations to ALS, a large exome data set obtained from 330 French patients, including 150 familial ALS index cases and 180 sporadic ALS cases, was analyzed, leading to the identification of 3 rare ANXA11 variants in 5 patients. The novel p.L254V variant was associated...

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PMID: 33218681
DOI: 10.1016/j.neurobiolaging.2020.10.015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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