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Page 1
Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study.
Fargeot G, Echaniz-Laguna A, Labeyrie C, Svahn J, Camdessanché JP, Cintas P, Chanson JB, Esselin F, Piedvache C, Verstuyft C, Genestet S, Lagrange E, Magy L, Péréon Y, Sacconi S, Signate A, Nadaj-Pakleza A, Taithe F, Viala K, Tard C, Poinsignon V, Cauquil C, Attarian S, Adams D. Fargeot G, et al. Among authors: sacconi s. Amyloid. 2024 Mar;31(1):62-69. doi: 10.1080/13506129.2023.2270661. Epub 2023 Oct 19. Amyloid. 2024. PMID: 37855400
Current clinical management of CIDP with immunoglobulins in France: An expert opinion.
Cintas P, Bouhour F, Cauquil C, Masingue M, Tard C, Sacconi S, Delmont E, Choumert A, Chanson JB, Michaud M, Solé G, Cassereau J, Noury JB, Nicolas G, Bellance R, Péréon Y, Camdessanché JP, Magy L, Attarian S; French Neuromuscular diseases network (Filnemus). Cintas P, et al. Among authors: sacconi s. Rev Neurol (Paris). 2023 Oct;179(8):914-922. doi: 10.1016/j.neurol.2023.03.010. Epub 2023 Apr 3. Rev Neurol (Paris). 2023. PMID: 37019741 Free article.
Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study.
Bril V, Drużdż A, Grosskreutz J, Habib AA, Mantegazza R, Sacconi S, Utsugisawa K, Vissing J, Vu T, Boehnlein M, Bozorg A, Gayfieva M, Greve B, Woltering F, Kaminski HJ; MG0003 study team. Bril V, et al. Among authors: sacconi s. Lancet Neurol. 2023 May;22(5):383-394. doi: 10.1016/S1474-4422(23)00077-7. Lancet Neurol. 2023. PMID: 37059507 Clinical Trial.
268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials.
Montagnese F, de Valle K, Lemmers RJLF, Mul K, Dumonceaux J, Voermans N; 268th ENMC workshop participants. Montagnese F, et al. Neuromuscul Disord. 2023 May;33(5):447-462. doi: 10.1016/j.nmd.2023.04.005. Epub 2023 Apr 8. Neuromuscul Disord. 2023. PMID: 37099914 No abstract available.
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).
Pinós T, Andreu AL, Bruno C, Hadjigeorgiou GM, Haller RG, Laforêt P, Lucía A, Martín MA, Martinuzzi A, Navarro C, Oflazer P, Pouget J, Quinlivan R, Sacconi S, Scalco RS, Toscano A, Vissing J, Vorgerd M, Wakelin A, Martí R; EUROMAC Consortium. Pinós T, et al. Among authors: sacconi s. Orphanet J Rare Dis. 2020 Oct 15;15(1):187. doi: 10.1186/s13023-020-01455-z. Orphanet J Rare Dis. 2020. PMID: 33054807 Free PMC article.
Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I.
Puma A, Tammam G, Ezaru A, Slioui A, Torchia E, Tasca G, Villa L, Cavalli M, Salviati L, van der Vliet PJ, Lemmers RJ, Pini J, van der Maarel SM, Sacconi S. Puma A, et al. Among authors: sacconi s. Eur J Hum Genet. 2025 Jan 7. doi: 10.1038/s41431-024-01770-0. Online ahead of print. Eur J Hum Genet. 2025. PMID: 39775061
Autoantibodies against a subunit of mitochondrial respiratory chain complex I in inclusion body myositis.
Notarnicola A, Hellstrom C, Horuluoglu B, Pin E, Preger C, Bonomi F, De Paepe B, De Bleecker JL, Van der Kooi AJ, De Visser M, Sacconi S, Machado P, Badrising UA, Rietveld A, Pruijn G, Rothwell S, Lilleker JB, Chinoy H, Benveniste O, Svenungsson E, Idborg H, Jakobsson PJ, Nilsson P, Lundberg IE. Notarnicola A, et al. Among authors: sacconi s. J Autoimmun. 2024 Dec;149:103332. doi: 10.1016/j.jaut.2024.103332. Epub 2024 Nov 18. J Autoimmun. 2024. PMID: 39561568
Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.
Kishnani PS, Byrne BJ, Claeys KG, Díaz-Manera J, Dimachkie MM, Kushlaf H, Mozaffar T, Roberts M, Schoser B, Hummel N, Kopiec A, Holdbrook F, Shohet S, Toscano A; PROPEL Study Group. Kishnani PS, et al. J Patient Rep Outcomes. 2024 Nov 13;8(1):132. doi: 10.1186/s41687-024-00805-w. J Patient Rep Outcomes. 2024. PMID: 39535661 Free PMC article. Clinical Trial.
174 results