Eugenie Dionnet

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2010-2016 Myologie translationnelle Aix Marseille Université 
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Dionnet E, Defour A, Da Silva N, et al. (2020) Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay. Human Mutation
Barthélémy F, Blouin C, Wein N, et al. (2015) Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells. Journal of Neuromuscular Diseases. 2: 281-290
Sevy A, Cerino M, Gorokhova S, et al. (2015) Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing. Journal of Neurology, Neurosurgery, and Psychiatry
Puppo F, Dionnet E, Gaillard MC, et al. (2015) Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype. Human Mutation. 36: 443-53
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