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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: sacconi s. J Neuromuscul Dis. 2022;9(1):83-93. doi: 10.3233/JND-210711. J Neuromuscul Dis. 2022. PMID: 34459413 Free PMC article.
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
Sanson B, Stalens C, Guien C, Villa L, Eng C, Rabarimeriarijaona S, Bernard R, Cintas P, Solé G, Tiffreau V, Echaniz-Laguna A, Magot A, Juntas Morales R, Boyer FC, Nadaj-Pakleza A, Jacquin-Piques A, Béroud C, Sacconi S; French FSHD registry collaboration group. Sanson B, et al. Among authors: sacconi s. Orphanet J Rare Dis. 2022 Mar 2;17(1):96. doi: 10.1186/s13023-021-01793-6. Orphanet J Rare Dis. 2022. PMID: 35236385 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: sacconi s. Muscle Nerve. 2021 Mar;63(3):396-401. doi: 10.1002/mus.27102. Epub 2020 Dec 24. Muscle Nerve. 2021. PMID: 33094863
E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019.
Pini J, Siciliano G, Lahaut P, Braun S, Segovia-Kueny S, Kole A, Hérnando I, Selb J, Schirinzi E, Duong T, Hogrel JY, Olmedo JJS, Vissing J, Servais L, Vincent-Genod D, Vuillerot C, Bannwarth S, Eggenspieler D, Vicart S, Diaz-Manera J; eNMD group; Lochmüller H, Sacconi S. Pini J, et al. Among authors: sacconi s. J Neuromuscul Dis. 2021;8(4):743-754. doi: 10.3233/JND-210655. J Neuromuscul Dis. 2021. PMID: 33843694 Free PMC article.
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. Neurology. 2019 May 7;92(19):e2273-e2285. doi: 10.1212/WNL.0000000000007456. Epub 2019 Apr 12. Neurology. 2019. PMID: 30979860 Free PMC article.
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.
Salort-Campana E, Nguyen K, Bernard R, Jouve E, Solé G, Nadaj-Pakleza A, Niederhauser J, Charles E, Ollagnon E, Bouhour F, Sacconi S, Echaniz-Laguna A, Desnuelle C, Tranchant C, Vial C, Magdinier F, Bartoli M, Arne-Bes MC, Ferrer X, Kuntzer T, Levy N, Pouget J, Attarian S. Salort-Campana E, et al. Among authors: sacconi s. Orphanet J Rare Dis. 2015 Jan 21;10:2. doi: 10.1186/s13023-014-0218-1. Orphanet J Rare Dis. 2015. PMID: 25603992 Free PMC article.
Bent spine syndrome as the initial symptom of late-onset Pompe disease.
Taisne N, Desnuelle C, Juntas Morales R, Ferrer Monasterio X, Sacconi S, Duval F, Sole G, Flipo RM, Lacour A, Vermersch P, Cardon T. Taisne N, et al. Among authors: sacconi s. Muscle Nerve. 2017 Jul;56(1):167-170. doi: 10.1002/mus.25478. Epub 2016 Nov 30. Muscle Nerve. 2017. PMID: 27862019
164 results