| Year |
Citation |
Score |
| 2020 |
Dionnet E, Defour A, Da Silva N, Salvi A, Lévy N, Krahn M, Bartoli M, Puppo F, Gorokhova S. Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay. Human Mutation. PMID 32668095 DOI: 10.1002/Humu.24083 |
0.661 |
|
| 2015 |
Barthélémy F, Blouin C, Wein N, Mouly V, Courrier S, Dionnet E, Kergourlay V, Mathieu Y, Garcia L, Butler-Browne G, Lamaze C, Lévy N, Krahn M, Bartoli M. Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells. Journal of Neuromuscular Diseases. 2: 281-290. PMID 27858744 DOI: 10.3233/Jnd-150109 |
0.401 |
|
| 2015 |
Sevy A, Cerino M, Gorokhova S, Dionnet E, Mathieu Y, Verschueren A, Franques J, Maues de Paula A, Figarella-Branger D, Lagarde A, Desvignes JP, Béroud C, Attarian S, Levy N, Bartoli M, et al. Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 25783436 DOI: 10.1136/Jnnp-2014-309663 |
0.64 |
|
| 2015 |
Puppo F, Dionnet E, Gaillard MC, Gaildrat P, Castro C, Vovan C, Bertaux K, Bernard R, Attarian S, Goto K, Nishino I, Hayashi Y, Magdinier F, Krahn M, Helmbacher F, et al. Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype. Human Mutation. 36: 443-53. PMID 25615407 DOI: 10.1002/Humu.22760 |
0.67 |
|
| 2015 |
Dionnet E, Tsvetkov P, Gorokhova S, Maues de Paula A, Devred F, Krahn M, Bartoli M. Mutations in the EF hands of STIM1 lead to different clinical severity Neuromuscular Disorders. 25: S289. DOI: 10.1016/J.Nmd.2015.06.368 |
0.519 |
|
| 2014 |
Puppo F, Dionnet E, Gaildrat P, Castro C, Bernard R, Salort-Campana E, Shahram A, Nishino I, Krahn M, Helmbacher F, Levy N, Bartoli M. G.P.12 Neuromuscular Disorders. 24: 797-798. DOI: 10.1016/J.Nmd.2014.06.026 |
0.501 |
|
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