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Page 1
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 Nov 18;149:103332. doi: 10.1016/j.jaut.2024.103332. Online ahead of print. 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.
Safety, tolerability, and efficacy of subcutaneous efgartigimod in patients with chronic inflammatory demyelinating polyradiculoneuropathy (ADHERE): a multicentre, randomised-withdrawal, double-blind, placebo-controlled, phase 2 trial.
Allen JA, Lin J, Basta I, Dysgaard T, Eggers C, Guptill JT, Gwathmey KG, Hewamadduma C, Hofman E, Hussain YM, Kuwabara S, Le Masson G, Leypoldt F, Chang T, Lipowska M, Lowe M, Lauria G, Querol L, Simu MA, Suresh N, Tse A, Ulrichts P, Van Hoorick B, Yamasaki R, Lewis RA, van Doorn PA; ADHERE Study Group. Allen JA, et al. Lancet Neurol. 2024 Oct;23(10):1013-1024. doi: 10.1016/S1474-4422(24)00309-0. Lancet Neurol. 2024. PMID: 39304241 Clinical Trial.
Efficacy and safety of rozanolixizumab in patients with muscle-specific tyrosine kinase autoantibody-positive generalised myasthenia gravis: a subgroup analysis of the randomised, double-blind, placebo-controlled, adaptive phase III MycarinG study.
Habib AA, Sacconi S, Antonini G, Cortés-Vicente E, Grosskreutz J, Mahuwala ZK, Mantegazza R, Pascuzzi RM, Utsugisawa K, Vissing J, Vu T, Wiendl H, Boehnlein M, Greve B, Woltering F, Bril V. Habib AA, et al. Among authors: sacconi s. Ther Adv Neurol Disord. 2024 Sep 12;17:17562864241273036. doi: 10.1177/17562864241273036. eCollection 2024. Ther Adv Neurol Disord. 2024. PMID: 39297052 Free PMC article.
Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale.
van Kooten HA, Horton MC, Wenninger S, Babačić H, Schoser B, Lefeuvre C, Taouagh N, Laforêt P, Segovia S, Díaz-Manera J, Claeys KG, Mongini T, Musumeci O, Toscano A, Hundsberger T, Brusse E, van Doorn PA, van der Ploeg AT, van der Beek NAME; European Pompe Consortium study group on outcome measures. van Kooten HA, et al. Eur J Neurol. 2024 Dec;31(12):e16397. doi: 10.1111/ene.16397. Epub 2024 Aug 28. Eur J Neurol. 2024. PMID: 39205420 Free PMC article.
Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.
Retailleau E, Lefeuvre C, De Antonio M, Bouhour F, Tard C, Salort-Campana E, Lagrange E, Béhin A, Solé G, Noury JB, Sacconi S, Magot A, Pakleza AN, Orlikowski D, Beltran S, Spinazzi M, Cintas P, Fournier M, Bouibede F, Prigent H, Nicolas G, Taouagh N, El Guizani T, Attarian S, Arrassi A, Hamroun D, Laforêt P. Retailleau E, et al. Among authors: sacconi s. Eur J Neurol. 2024 Oct;31(10):e16428. doi: 10.1111/ene.16428. Epub 2024 Aug 7. Eur J Neurol. 2024. PMID: 39109844 Free PMC article.
French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).
Attarian S, Beloribi-Djefaflia S, Bernard R, Nguyen K, Cances C, Gavazza C, Echaniz-Laguna A, Espil C, Evangelista T, Feasson L, Audic F, Zagorda B, Milhe De Bovis V, Stojkovic T, Sole G, Salort-Campana E, Sacconi S. Attarian S, et al. Among authors: sacconi s. J Neurol. 2024 Sep;271(9):5778-5803. doi: 10.1007/s00415-024-12538-3. Epub 2024 Jul 2. J Neurol. 2024. PMID: 38955828 Review.
E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29-30 October 2021.
Schirinzi E, Bochicchio MA, Lochmüller H, Vissing J, Jordie-Diaz-Manerae, Evangelista T, Plançon JP, Fanucci L, Marini M, Tonacci A, Mancuso M, Segovia-Kueny S, Toscano A, Angelini C, Schoser B, Sacconi S, Siciliano G; e-NMD group. Schirinzi E, et al. Among authors: sacconi s. J Neuromuscul Dis. 2024 May 8. doi: 10.3233/JND-230091. Online ahead of print. J Neuromuscul Dis. 2024. PMID: 38728200
173 results