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Page 1
Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt-Jakob disease in two patients.
Delorme C, Pégat A, Theuriet J, Brandel JP, Roze E, Viala K, Zyss J, Thobois S, Fourier A, Bernard E, Svahn J, Laurencin C, Jaulent P, Vandendries C, Quadrio I, Desestret V, Meyronet D, Maisonobe T, Haïk S, Seilhean D. Delorme C, et al. Among authors: theuriet j. Ann Clin Transl Neurol. 2025 Jan 12. doi: 10.1002/acn3.52296. Online ahead of print. Ann Clin Transl Neurol. 2025. PMID: 39799963
Defining the landscape of TIA1 and SQSTM1 digenic myopathy.
Panos-Basterra P, Theuriet J, Nadaj-Pakleza A, Magot A, Lannes B, Marcorelles P, Behin A, Masingue M, Caillon F, Malek Y, Fenouil T, Bas J, Menassa R, Michel-Calemard L, Streichenberger N, Simon JP, Bouhour F, Evangelista T, Métay C, Pegat A, Stojkovic T, Fernández-Eulate G. Panos-Basterra P, et al. Among authors: theuriet j. Neuromuscul Disord. 2024 Sep;42:43-52. doi: 10.1016/j.nmd.2024.07.008. Epub 2024 Jul 24. Neuromuscul Disord. 2024. PMID: 39142003
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J, Masingue M, Behin A, Ferreiro A, Bassez G, Jaubert P, Tarabay O, Fer F, Pegat A, Bouhour F, Svahn J, Petiot P, Jomir L, Chauplannaz G, Cornut-Chauvinc C, Manel V, Salort-Campana E, Attarian S, Fortanier E, Verschueren A, Kouton L, Camdessanché JP, Tard C, Magot A, Péréon Y, Noury JB, Minot-Myhie MC, Perie M, Taithe F, Farhat Y, Millet AL, Cintas P, Solé G, Spinazzi M, Esselin F, Renard D, Sacconi S, Ezaru A, Malfatti E, Mallaret M, Magy L, Diab E, Merle P, Michaud M, Fournier M, Pakleza AN, Chanson JB, Lefeuvre C, Laforet P, Richard P, Sternberg D, Villar-Quiles RN, Stojkovic T, Eymard B. Theuriet J, et al. Brain. 2024 Nov 4;147(11):3849-3862. doi: 10.1093/brain/awae124. Brain. 2024. PMID: 38696726 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.
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.
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.
18 results