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Page 1
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: bedat millet al. Neurol Genet. 2023 Jul 17;9(4):e200087. doi: 10.1212/NXG.0000000000200087. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37470033 Free PMC article.
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
Laforêt P, Acquaviva-Bourdain C, Rigal O, Brivet M, Penisson-Besnier I, Chabrol B, Chaigne D, Boespflug-Tanguy O, Laroche C, Bedat-Millet AL, Behin A, Delevaux I, Lombès A, Andresen BS, Eymard B, Vianey-Saban C. Laforêt P, et al. Neuromuscul Disord. 2009 May;19(5):324-9. doi: 10.1016/j.nmd.2009.02.007. Epub 2009 Mar 26. Neuromuscul Disord. 2009. PMID: 19327992
Anti-MuSK myasthenia gravis with prolonged remission.
Bouwyn JP, Magnier P, Bédat-Millet AL, Ahtoy P, Maltête D, Lefaucheur R. Bouwyn JP, et al. Neuromuscul Disord. 2016 Jul;26(7):453-4. doi: 10.1016/j.nmd.2016.04.008. Epub 2016 Apr 8. Neuromuscul Disord. 2016. PMID: 27161384
Deep phenotyping of an international series of patients with late-onset dysferlinopathy.
Fernández-Eulate G, Querin G, Moore U, Behin A, Masingue M, Bassez G, Leonard-Louis S, Laforêt P, Maisonobe T, Merle PE, Spinazzi M, Solé G, Kuntzer T, Bedat-Millet AL, Salort-Campana E, Attarian S, Péréon Y, Feasson L, Graveleau J, Nadaj-Pakleza A, Leturcq F, Gorokhova S, Krahn M, Eymard B, Straub V; Jain COS Consortium; Evangelista T, Stojkovic T. Fernández-Eulate G, et al. Eur J Neurol. 2021 Jun;28(6):2092-2102. doi: 10.1111/ene.14821. Epub 2021 Apr 1. Eur J Neurol. 2021. PMID: 33715265 Free article.
Cardiac Abnormalities in Type 1 Facioscapulohumeral Muscular Dystrophy.
Labombarda F, Maurice M, Simon JP, Legallois D, Guyant-Maréchal L, Bedat-Millet AL, Merle P, Saloux E, Chapon F, Milliez P. Labombarda F, et al. J Clin Neuromuscul Dis. 2017 Jun;18(4):199-206. doi: 10.1097/CND.0000000000000144. J Clin Neuromuscul Dis. 2017. PMID: 28538250
34 results