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Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Fernández-Eulate G, Theuriet J, Record CJ, Querin G, Masingue M, Leonard-Louis S, Behin A, Le Forestier N, Pegat A, Michaud M, Chanson JB, Nadaj-Pakleza A, Tard C, Bedat-Millet AL, Sole G, Spinazzi M, Salort-Campana E, Echaniz-Laguna A, Poinsignon V, Latour P, Reilly MM, Bouhour F, Stojkovic T. Fernández-Eulate G, et al. Among authors: theuriet j. Neurol Genet. 2023 Jul 17;9(4):e200087. doi: 10.1212/NXG.0000000000200087. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37470033 Free PMC article.
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Jacquier A, Theuriet J, Fontaine F, Mosbach V, Lacoste N, Ribault S, Risson V, Carras J, Coudert L, Simonet T, Latour P, Stojkovic T, Piard J, Cosson A, Lesca G, Bouhour F, Allouche S, Puccio H, Pegat A, Schaeffer L. Jacquier A, et al. Among authors: theuriet j. Brain. 2023 Aug 1;146(8):3470-3483. doi: 10.1093/brain/awac453. Brain. 2023. PMID: 36454683 Free PMC article.
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.
Theuriet J, Fernandez-Eulate G, Latour P, Stojkovic T, Masingue M, Vidoni L, Bernard E, Jacquier A, Schaeffer L, Salort-Campana E, Chanson JB, Pakleza AN, Kaminsky AL, Svahn J, Manel V, Bouhour F, Pegat A. Theuriet J, et al. Eur J Hum Genet. 2024 Jan;32(1):37-43. doi: 10.1038/s41431-023-01407-8. Epub 2023 Jun 19. Eur J Hum Genet. 2024. PMID: 37337091 Free PMC article.
Peripheral nervous system involvement accompanies central nervous system involvement in anti-glial fibrillary acidic protein (GFAP) antibody-related disease.
Theuriet J, Cluse F, Gravier-Dumonceau A, Picard G, Closs S, Rogemond V, Timestit N, Bouhour F, Petiot P, Davy V, Chanson E, Arzalluz-Luque J, Marignier R, Honnorat J, Pegat A. Theuriet J, et al. J Neurol. 2023 Nov;270(11):5545-5560. doi: 10.1007/s00415-023-11908-7. Epub 2023 Aug 4. J Neurol. 2023. PMID: 37540278 Free PMC article.
15 results