Publications

2023

Lequain H, Gerfaud-Valentin M, Emile JF, Gangloff YG, Boursier G, Deligny C, Le Guenno G, Tantot J, ..., H syndrome mimicking Erdheim Chester disease: new entity and therapeutic perspectives., Haematologica 2023 Aug; 108(8): 2255-2260.

2023

Svahn J, Coudert L, Streichenberger N, Kraut A, Gravier-Dumonceau-Mazelier A, Rotard L, Calemard-Mic..., Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies., Neurol Neuroimmunol Neuroinflamm 2023 Jan; 10(1): .

2022

Pegat A, Streichenberger N, Lacoste N, Hermier M, Menassa R, Coudert L, Theuriet J, Froissart R, Ter..., Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report., Genes (Basel) 2022 Nov; 13(12): .

2017

Jacquier A, Delorme C, Belotti E, Juntas-Morales R, Solé G, Dubourg O, Giroux M, Maurage CA, Castel..., Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death., Acta Neuropathol Commun 2017 Jul; 5(1): 55.

2013

Ben Ammar A, Soltanzadeh P, Bauché S, Richard P, Goillot E, Herbst R, Gaudon K, Huzé C, Schaeffer ..., A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia., PLoS One 2013 ; 8(1): e53826.

2009

Huzé C, Bauché S, Richard P, Chevessier F, Goillot E, Gaudon K, Ben Ammar A, Chaboud A, Grosjean I..., Identification of an agrin mutation that causes congenital myasthenia and affects synapse function., Am J Hum Genet 2009 Aug; 85(2): 155-67.

2005

Chevessier F, Faraut B, Ravel-Chapuis A, Richard P, Gaudon K, Bauché S, Prioleau C, Herbst R, Goill..., [Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene]., J Soc Biol 2005 ; 199(1): 61-77.