| 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 |
0.587 |
|
| 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 |
0.583 |
|
| 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 |
|
| Low-probability matches (unlikely to be authored by this person) |
| 2009 |
De Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, Heron D, Isidor B, Motte J, Newburry-Ecob R, Pasquier L, et al. Mutational, functional, and expression studies of the TCF4 gene in pitt-hopkins syndrome Human Mutation. 30: 669-676. PMID 19235238 DOI: 10.1002/Humu.20935 |
0.29 |
|
| 2009 |
Trochet D, Mathieu Y, Pontual Ld, Savarirayan R, Munnich A, Brunet JF, Lyonnet S, Goridis C, Amiel J. In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation. Human Mutation. 30: E421-31. PMID 19058226 DOI: 10.1002/Humu.20923 |
0.277 |
|
| 2008 |
Trochet D, de Pontual L, Estêvao MH, Mathieu Y, Munnich A, Feingold J, Goridis C, Lyonnet S, Amiel J. Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse). Human Mutation. 29: 770. PMID 18407552 DOI: 10.1002/Humu.20727 |
0.276 |
|
| 2002 |
Balciunaite G, Keller MP, Balciunaite E, Piali L, Zuklys S, Mathieu YD, Gill J, Boyd R, Sussman DJ, Holländer GA. Wnt glycoproteins regulate the expression of FoxN1, the gene defective in nude mice. Nature Immunology. 3: 1102-8. PMID 12379851 DOI: 10.1038/ni850 |
0.187 |
|
| 1991 |
Mathieu Y, Armen K, Xia H, Guern J, Koller A, Spiro MD, O'Neill M, Albersheim P, Darvill A. Membrane responses induced by oligogalacturonides in suspension-cultured tobacco cells. The Plant Journal : For Cell and Molecular Biology. 1: 333-343. PMID 29345772 DOI: 10.1046/J.1365-313X.1991.T01-10-00999.X |
0.153 |
|
| 2013 |
Auffret J, Freemark M, Carré N, Mathieu Y, Tourrel-Cuzin C, Lombès M, Movassat J, Binart N. Defective prolactin signaling impairs pancreatic β-cell development during the perinatal period American Journal of Physiology - Endocrinology and Metabolism. 305. PMID 24064341 DOI: 10.1152/ajpendo.00636.2012 |
0.147 |
|
| 2009 |
Colcombet J, Mathieu Y, Peyronnet R, Agier N, Lelièvre F, Barbier-Brygoo H, Frachisse JM. R-type anion channel activation is an essential step for ROS-dependent innate immune response in Arabidopsis suspension cells. Functional Plant Biology : Fpb. 36: 832-843. PMID 32688693 DOI: 10.1071/FP09096 |
0.099 |
|
| 2013 |
Fernández RM, Mathieu Y, Luzón-Toro B, Núñez-Torres R, González-Meneses A, Antiñolo G, Amiel J, Borrego S. Contributions of PHOX2B in the pathogenesis of Hirschsprung disease. Plos One. 8: e54043. PMID 23342068 DOI: 10.1371/journal.pone.0054043 |
0.046 |
|
| Hide low-probability matches. |