Year |
Citation |
Score |
2022 |
Cerino M, González-Hormazábal P, Abaji M, Courrier S, Puppo F, Mathieu Y, Trangulao A, Earle N, Castiglioni C, Díaz J, Campero M, Hughes R, Vargas C, Cortés R, Kleinsteuber K, et al. Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population. Genes. 13. PMID 35741838 DOI: 10.3390/genes13061076 |
0.684 |
|
2016 |
Bevilacqua J, Mathieu Y, Krahn M, Bartoli M, Castiglioni C, Kleinsteuber K, Díaz J, Puppo F, Cerino M, Courrier S, Gorokhova S, Miranda N, Trangulao A, González-Hormazábal P, Avaria M, et al. Calpainopathy in Chile, first cases reported Neuromuscular Disorders. 26: S91. DOI: 10.1016/J.Nmd.2016.06.023 |
0.586 |
|
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 |
0.379 |
|
2015 |
Gorokhova S, Cerino M, Mathieu Y, Courrier S, Desvignes JP, Salgado D, Béroud C, Krahn M, Bartoli M. Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders. Applied & Translational Genomics. 7: 26-31. PMID 27054082 DOI: 10.1016/J.Atg.2015.07.006 |
0.582 |
|
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 |
0.605 |
|
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