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FSHD1 and FSHD2 form a disease continuum.
Sacconi S, Briand-Suleau A, Gros M, Baudoin C, Lemmers RJLF, Rondeau S, Lagha N, Nigumann P, Cambieri C, Puma A, Chapon F, Stojkovic T, Vial C, Bouhour F, Cao M, Pegoraro E, Petiot P, Behin A, Marc B, Eymard B, Echaniz-Laguna A, Laforet P, Salviati L, Jeanpierre M, Cristofari G, van der Maarel SM. Sacconi S, et al. Among authors: puma a. Neurology. 2019 May 7;92(19):e2273-e2285. doi: 10.1212/WNL.0000000000007456. Epub 2019 Apr 12. Neurology. 2019. PMID: 30979860 Free PMC article.
Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy.
Gros M, Nunes AM, Daoudlarian D, Pini J, Martinuzzi E, Barbosa S, Ramirez M, Puma A, Villa L, Cavalli M, Grecu N, Garcia J, Siciliano G, Solé G, Juntas-Morales R, Jones PL, Jones T, Glaichenhaus N, Sacconi S. Gros M, et al. Among authors: puma a. J Neuromuscul Dis. 2022;9(1):83-93. doi: 10.3233/JND-210711. J Neuromuscul Dis. 2022. PMID: 34459413 Free PMC article.
Motor axonal neuropathy associated with GNE mutations.
Grecu N, Villa L, Cavalli M, Ristaino A, Choumert A, Butori C, Salviati L, Puma A, Krahn M, Cerino M, Sacconi S. Grecu N, et al. Among authors: puma a. Muscle Nerve. 2021 Mar;63(3):396-401. doi: 10.1002/mus.27102. Epub 2020 Dec 24. Muscle Nerve. 2021. PMID: 33094863
Anti-disialosyl-immunoglobulin M chronic autoimmune neuropathies: a nationwide multicenter retrospective study.
Peillet C, Adams D, Attarian S, Bouhour F, Cauquil C, Cassereau J, Chanson JB, Cintas P, Creange A, Delmont E, Fargeot G, Genestet S, Gueguen A, Kaminsky AL, Kuntzer T, Labeyrie C, Michaud M, Pereon Y, Puma A, Viala K, Chretien P, Adam C, Echaniz-Laguna A. Peillet C, et al. Among authors: puma a. Eur J Neurol. 2022 Dec;29(12):3547-3555. doi: 10.1111/ene.15523. Epub 2022 Aug 29. Eur J Neurol. 2022. PMID: 35969369
CANOMAD: a neurological monoclonal gammopathy of clinical significance that benefits from B-cell-targeted therapies.
Le Cann M, Bouhour F, Viala K, Simon L, Tard C, Rossi C, Morel G, Lagrange E, Magy L, Créange A, Michaud M, Franques J, Echaniz-Laguna A, Antoine JC, Baron M, Arnulf B, Puma A, Delmont E, Maisonobe T, Leblond V, Roos-Weil D. Le Cann M, et al. Among authors: puma a. Blood. 2020 Nov 19;136(21):2428-2436. doi: 10.1182/blood.2020007092. Blood. 2020. PMID: 32959046 Free article.
Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity.
Teveroni E, Pellegrino M, Sacconi S, Calandra P, Cascino I, Farioli-Vecchioli S, Puma A, Garibaldi M, Morosetti R, Tasca G, Ricci E, Trevisan CP, Galluzzi G, Pontecorvi A, Crescenzi M, Deidda G, Moretti F. Teveroni E, et al. Among authors: puma a. J Clin Invest. 2017 Apr 3;127(4):1531-1545. doi: 10.1172/JCI89401. Epub 2017 Mar 6. J Clin Invest. 2017. PMID: 28263188 Free PMC article.
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