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Page 1
Anti-SAE autoantibody in dermatomyositis: original comparative study and review of the literature.
Demortier J, Vautier M, Chosidow O, Gallay L, Bessis D, Berezne A, Cordel N, Schmidt J, Smail A, Duffau P, Jachiet M, Begon E, Gottlieb J, Chasset F, Graveleau J, Marque M, Cesbron E, Forestier A, Josse S, Kluger N, Beauchêne C, Le Corre Y, Pagis V, Rigolet A, Guillaume-Jugnot P, Authier FJ, Guilain N, Streichenberger N, Leonard-Louis S, Boussouar S, Landon-Cardinal O, Benveniste O, Allenbach Y. Demortier J, et al. Among authors: authier fj. Rheumatology (Oxford). 2023 Dec 1;62(12):3932-3939. doi: 10.1093/rheumatology/kead154. Rheumatology (Oxford). 2023. PMID: 37010495 Review.
Changes in amyloidosis phenotype over 11 years in a cardiac amyloidosis referral centre cohort in France.
Damy T, Zaroui A, de Tournemire M, Kharoubi M, Gounot R, Galat A, Guendouz S, Funalot B, Itti E, Roulin L, Audard V, Fanen P, Leroy V, Poulot E, Belhadj K, Mallet S, Deep Singh Chadah G, Planté-Bordeneuve V, Gendre T, Chevalier X, Guignard S, Bequignon E, Bartier S, Folliguet T, Lemonier F, Audureau E, Tixier D, Canoui-Poitrine F, Lefaucheur JP, Souvannanorath S, Authier FJ, Maupou S, Hittinger L, Molinier-Frenkel V, David JP, Broussier A, Oghina S, Teiger E. Damy T, et al. Among authors: authier fj. Arch Cardiovasc Dis. 2023 Oct;116(10):433-446. doi: 10.1016/j.acvd.2023.07.003. Epub 2023 Aug 18. Arch Cardiovasc Dis. 2023. PMID: 37640624 Free article.
Dysregulation of muscle cholesterol transport in amyotrophic lateral sclerosis.
Sapaly D, Cheguillaume F, Weill L, Clerc Z, Biondi O, Bendris S, Buon C, Slika R, Piller E, Sundaram VK, da Silva Ramos A, Amador MDM, Lenglet T, Debs R, Le Forestier N, Pradat PF, Salachas F, Lacomblez L, Hesters A, Borderie D, Devos D, Desnuelle C, Rolland AS, Periou B, Vasseur S, Chapart M, Le Ber I, Fauret-Amsellem AL, Millecamps S, Maisonobe T, Leonard-Louis S, Behin A, Authier FJ, Evangelista T, Charbonnier F, Bruneteau G; PULSE study group. Sapaly D, et al. Among authors: authier fj. Brain. 2024 Aug 28:awae270. doi: 10.1093/brain/awae270. Online ahead of print. Brain. 2024. PMID: 39197036
Systemic light chain amyloidosis myopathy responsive to daratumumab monotherapy.
Chitimus DM, Berling E, Garderet L, Venturelli N, Malfatti E, Authier FJ, Nicolas G, Laforêt P, Lefeuvre C. Chitimus DM, et al. Among authors: authier fj. Eur J Neurol. 2023 Mar;30(3):745-748. doi: 10.1111/ene.15640. Epub 2022 Nov 28. Eur J Neurol. 2023. PMID: 36403110 Free PMC article.
Characterizing Acute-Onset Small Fiber Neuropathy.
Gendre T, Lefaucheur JP, Nordine T, Baba-Amer Y, Authier FJ, Devaux J, Créange A. Gendre T, et al. Among authors: authier fj. Neurol Neuroimmunol Neuroinflamm. 2024 Mar;11(2):e200195. doi: 10.1212/NXI.0000000000200195. Epub 2024 Jan 3. Neurol Neuroimmunol Neuroinflamm. 2024. PMID: 38170952 Free PMC article.
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.
Cardone N, Moula M, Baelde RJ, Biquand A, Villanova M, Metay C, Fiorillo C, Baratto S, Merlini L, Sabatelli P, Romero NB, Relaix F, Authier FJ, Taglietti V, Savarese M, de Winter J, Ottenheijm C, Richard I, Malfatti E. Cardone N, et al. Among authors: authier fj. Acta Neuropathol Commun. 2023 Mar 21;11(1):48. doi: 10.1186/s40478-023-01539-4. Acta Neuropathol Commun. 2023. PMID: 36945066 Free PMC article.
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14.
Severa G, Pennisi A, Barnerias C, Fiorillo C, Scala M, Taglietti V, Cojocaru AI, Jouni D, Tosca L, Tachdjian G, Desguerre I, Authier FJ, Carlier RY, Metay C, Verebi C, Malfatti E. Severa G, et al. Among authors: authier fj. Neuromuscul Disord. 2023 Oct;33(10):817-821. doi: 10.1016/j.nmd.2023.08.011. Epub 2023 Aug 25. Neuromuscul Disord. 2023. PMID: 37743183
An up-to-date myopathologic characterisation of facioscapulohumeral muscular dystrophy type 1 muscle biopsies shows sarcolemmal complement membrane attack complex deposits and increased skeletal muscle regeneration.
Hubregtse L, Bouman K, Lama C, Lassche S, de Graaf N, Taglietti V, Küsters B, Periou B, Relaix F, van Engelen B, Authier FJ, Voermans NC, Malfatti E. Hubregtse L, et al. Among authors: authier fj. Neuromuscul Disord. 2024 Mar;36:6-15. doi: 10.1016/j.nmd.2024.01.003. Epub 2024 Jan 14. Neuromuscul Disord. 2024. PMID: 38306719 Free article.
Orphan Drugs in Neurology-A Narrative Review.
Sirbu CA, Ivan R, Authier FJ, Ionita-Radu F, Jianu DC, Vasiliu O, Constantin C, Tuță S. Sirbu CA, et al. Among authors: authier fj. J Pers Med. 2023 Feb 26;13(3):420. doi: 10.3390/jpm13030420. J Pers Med. 2023. PMID: 36983602 Free PMC article. Review.
183 results