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Comparison of cardiac involvement, extracardiac manifestations and outcomes between homozygote and heterozygote transthyretin p.Val142Ile (V122I) variant in patients with hereditary transthyretin amyloidosis: a cohort study.
Albenque G, Bézard M, Kharoubi M, Odouard S, Lunati A, Poullot E, Zaroui A, Teiger E, Hittinger L, Audard V, El Karoui K, Funalot B, Fanen P, Damy T, Oghina S. Albenque G, et al. Among authors: lunati a. Amyloid. 2023 Dec;30(4):407-415. doi: 10.1080/13506129.2023.2227322. Epub 2023 Jun 28. Amyloid. 2023. PMID: 37377439
[No title available]
[No authors listed] [No authors listed] PMID: 32472966
Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation.
Mansour-Hendili L, Egée S, Monedero-Alonso D, Bouyer G, Godeau B, Badaoui B, Lunati A, Noizat C, Aissat A, Kiger L, Mekki C, Picard V, Moutereau S, Fanen P, Bartolucci P, Garçon L, Galactéros F, Funalot B. Mansour-Hendili L, et al. Among authors: lunati a. Am J Hematol. 2021 Sep 1;96(9):E318-E321. doi: 10.1002/ajh.26245. Epub 2021 Jun 2. Am J Hematol. 2021. PMID: 34004026 Free article. No abstract available.
The genetic landscape of Parkinson's disease.
Lunati A, Lesage S, Brice A. Lunati A, et al. Rev Neurol (Paris). 2018 Nov;174(9):628-643. doi: 10.1016/j.neurol.2018.08.004. Epub 2018 Sep 21. Rev Neurol (Paris). 2018. PMID: 30245141 Review.
Stimulation of synaptic activity promotes TFEB-mediated clearance of pathological MAPT/Tau in cellular and mouse models of tauopathies.
Akwa Y, Di Malta C, Zallo F, Gondard E, Lunati A, Diaz-de-Grenu LZ, Zampelli A, Boiret A, Santamaria S, Martinez-Preciado M, Cortese K, Kordower JH, Matute C, Lozano AM, Capetillo-Zarate E, Vaccari T, Settembre C, Baulieu EE, Tampellini D. Akwa Y, et al. Among authors: lunati a. Autophagy. 2023 Feb;19(2):660-677. doi: 10.1080/15548627.2022.2095791. Epub 2022 Jul 22. Autophagy. 2023. PMID: 35867714 Free PMC article.
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Lesage S, Lunati A, Houot M, Romdhan SB, Clot F, Tesson C, Mangone G, Toullec BL, Courtin T, Larcher K, Benmahdjoub M, Arezki M, Bouhouche A, Anheim M, Roze E, Viallet F, Tison F, Broussolle E, Emre M, Hanagasi H, Bilgic B, Tazir M, Djebara MB, Gouider R, Tranchant C, Vidailhet M, Le Guern E, Corti O, Mhiri C, Lohmann E, Singleton A, Corvol JC, Brice A; French Parkinson Disease Genetics Study Group. Lesage S, et al. Among authors: lunati a. Ann Neurol. 2020 Oct;88(4):843-850. doi: 10.1002/ana.25787. Epub 2020 Jul 28. Ann Neurol. 2020. PMID: 33045815 Free PMC article.
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.
Lerat J, Magdelaine C, Lunati A, Dzugan H, Dejoie C, Rego M, Beze Beyrie P, Bieth E, Calvas P, Cintas P, Delaubrier A, Demurger F, Gilbert-Dussardier B, Goizet C, Journel H, Laffargue F, Magy L, Taithe F, Toutain A, Urtizberea JA, Sturtz F, Lia AS. Lerat J, et al. Among authors: lunati a. J Neurol Sci. 2019 Nov 15;406:116376. doi: 10.1016/j.jns.2019.06.027. Epub 2019 Jun 26. J Neurol Sci. 2019. PMID: 31634715