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Year Number of Results
2004 1
2006 1
2007 3
2008 3
2009 3
2010 1
2011 1
2012 2
2013 1
2014 2
2015 2
2016 3
2017 1
2018 1
2019 2
2020 3
2021 8
2022 4
2023 9
2024 12
2025 1

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59 results

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Page 1
Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study.
Howard JF Jr, Bresch S, Genge A, Hewamadduma C, Hinton J, Hussain Y, Juntas-Morales R, Kaminski HJ, Maniaol A, Mantegazza R, Masuda M, Sivakumar K, Śmiłowski M, Utsugisawa K, Vu T, Weiss MD, Zajda M, Boroojerdi B, Brock M, de la Borderie G, Duda PW, Lowcock R, Vanderkelen M, Leite MI; RAISE Study Team. Howard JF Jr, et al. Lancet Neurol. 2023 May;22(5):395-406. doi: 10.1016/S1474-4422(23)00080-7. Lancet Neurol. 2023. PMID: 37059508 Clinical Trial.
Aralar Sequesters GABA into Hyperactive Mitochondria, Causing Social Behavior Deficits.
Kanellopoulos AK, Mariano V, Spinazzi M, Woo YJ, McLean C, Pech U, Li KW, Armstrong JD, Giangrande A, Callaerts P, Smit AB, Abrahams BS, Fiala A, Achsel T, Bagni C. Kanellopoulos AK, et al. Among authors: spinazzi m. Cell. 2020 Mar 19;180(6):1178-1197.e20. doi: 10.1016/j.cell.2020.02.044. Cell. 2020. PMID: 32200800 Free article.
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M; Solve-RD DITF-ITHACA; Solve-RD DITF-Euro-NMD; Solve-RD DITF-RND; Solve-RD DITF-EpiCARE; Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A. Steyaert W, et al. Among authors: spinazzi m. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. medRxiv. 2024. PMID: 38746462 Free PMC article. Preprint.
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J, Masingue M, Behin A, Ferreiro A, Bassez G, Jaubert P, Tarabay O, Fer F, Pegat A, Bouhour F, Svahn J, Petiot P, Jomir L, Chauplannaz G, Cornut-Chauvinc C, Manel V, Salort-Campana E, Attarian S, Fortanier E, Verschueren A, Kouton L, Camdessanché JP, Tard C, Magot A, Péréon Y, Noury JB, Minot-Myhie MC, Perie M, Taithe F, Farhat Y, Millet AL, Cintas P, Solé G, Spinazzi M, Esselin F, Renard D, Sacconi S, Ezaru A, Malfatti E, Mallaret M, Magy L, Diab E, Merle P, Michaud M, Fournier M, Pakleza AN, Chanson JB, Lefeuvre C, Laforet P, Richard P, Sternberg D, Villar-Quiles RN, Stojkovic T, Eymard B. Theuriet J, et al. Among authors: spinazzi m. Brain. 2024 Nov 4;147(11):3849-3862. doi: 10.1093/brain/awae124. Brain. 2024. PMID: 38696726 Free PMC article.
PARL: The mitochondrial rhomboid protease.
Spinazzi M, De Strooper B. Spinazzi M, et al. Semin Cell Dev Biol. 2016 Dec;60:19-28. doi: 10.1016/j.semcdb.2016.07.034. Epub 2016 Aug 5. Semin Cell Dev Biol. 2016. PMID: 27502471 Review.
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Fernández-Eulate G, Theuriet J, Record CJ, Querin G, Masingue M, Leonard-Louis S, Behin A, Le Forestier N, Pegat A, Michaud M, Chanson JB, Nadaj-Pakleza A, Tard C, Bedat-Millet AL, Sole G, Spinazzi M, Salort-Campana E, Echaniz-Laguna A, Poinsignon V, Latour P, Reilly MM, Bouhour F, Stojkovic T. Fernández-Eulate G, et al. Among authors: spinazzi m. Neurol Genet. 2023 Jul 17;9(4):e200087. doi: 10.1212/NXG.0000000000200087. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37470033 Free PMC article.
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
Salort-Campana E, Solé G, Magot A, Tard C, Noury JB, Behin A, De La Cruz E, Boyer F, Lefeuvre C, Masingue M, Debergé L, Finet A, Brison M, Spinazzi M, Pegat A, Sacconi S, Malfatti E, Choumert A, Bellance R, Bedat-Millet AL, Feasson L, Vuillerot C, Jacquin-Piques A, Michaud M, Pereon Y, Stojkovic T, Laforêt P, Attarian S, Cintas P. Salort-Campana E, et al. Among authors: spinazzi m. Orphanet J Rare Dis. 2024 Jan 24;19(1):24. doi: 10.1186/s13023-023-03008-6. Orphanet J Rare Dis. 2024. PMID: 38268028 Free PMC article.
59 results