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Page 1
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Barp A, Laforet P, Bello L, Tasca G, Vissing J, Monforte M, Ricci E, Choumert A, Stojkovic T, Malfatti E, Pegoraro E, Semplicini C, Stramare R, Scheidegger O, Haberlova J, Straub V, Marini-Bettolo C, Løkken N, Diaz-Manera J, Urtizberea JA, Mercuri E, Kynčl M, Walter MC, Carlier RY. Barp A, et al. Among authors: choumert a. J Neurol. 2020 Jan;267(1):45-56. doi: 10.1007/s00415-019-09539-y. Epub 2019 Sep 25. J Neurol. 2020. PMID: 31555977 Free article.
Clinical characterisation of sensory neuropathy with anti-FGFR3 autoantibodies.
Tholance Y, Moritz CP, Rosier C, Ferraud K, Lassablière F, Reynaud-Federspiel E, França MC Jr, Martinez ARM, Camdessanché JP, Antoine JC; anti-FGFR3 antibody Study Group. Tholance Y, et al. J Neurol Neurosurg Psychiatry. 2020 Jan;91(1):49-57. doi: 10.1136/jnnp-2019-321849. Epub 2019 Nov 5. J Neurol Neurosurg Psychiatry. 2020. PMID: 31690697
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
Villar-Quiles RN, Donkervoort S, de Becdelièvre A, Gartioux C, Jobic V, Foley AR, McCarty RM, Hu Y, Menassa R, Michel L, Gousse G, Lacour A, Petiot P, Streichenberger N, Choumert A, Declerck L, Urtizberea JA, Sole G, Furby A, Cérino M, Krahn M, Campana-Salort E, Ferreiro A, Eymard B, Bönnemann CG, Bharucha-Goebel D, Sumner CJ, Connolly AM, Richard P, Allamand V, Métay C, Stojkovic T. Villar-Quiles RN, et al. Among authors: choumert a. J Neuromuscul Dis. 2021;8(4):633-645. doi: 10.3233/JND-200577. J Neuromuscul Dis. 2021. PMID: 33749658
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. 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.
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Pons N, Fernández-Eulate G, Pegat A, Théaudin M, Guieu R, Ripellino P, Devedjian M, Mace P, Masingue M, Léonard-Louis S, Petiot P, Roche P, Bernard E, Bouhour F, Good JM, Verschueren A, Grapperon AM, Salort E, Grosset A, Chanson JB, Nadaj-Pakleza A, Bédat-Millet AL, Choumert A, Barnier A, Hamdi G, Lesca G, Prieur F, Bruneel A, Latour P, Stojkovic T, Attarian S, Bonello-Palot N. Pons N, et al. Among authors: choumert a. Eur J Neurol. 2023 Jul;30(7):2001-2011. doi: 10.1111/ene.15793. Epub 2023 Apr 4. Eur J Neurol. 2023. PMID: 36943151
Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.
Barbat du Closel L, Bonello-Palot N, Péréon Y, Echaniz-Laguna A, Camdessanche JP, Nadaj-Pakleza A, Chanson JB, Frachet S, Magy L, Cassereau J, Cintas P, Choumert A, Devic P, Leonard Louis S, Gravier Dumonceau R, Delmont E, Salort-Campana E, Bouhour F, Latour P, Stojkovic T, Attarian S. Barbat du Closel L, et al. Among authors: choumert a. Eur J Neurol. 2023 Oct;30(10):3265-3276. doi: 10.1111/ene.15937. Epub 2023 Jul 5. Eur J Neurol. 2023. PMID: 37335503
Myopathic camptocormia associated with myasthenia gravis.
Devic P, Choumert A, Vukusic S, Confavreux C, Petiot P. Devic P, et al. Among authors: choumert a. Clin Neurol Neurosurg. 2013 Aug;115(8):1488-9. doi: 10.1016/j.clineuro.2012.11.015. Epub 2012 Dec 21. Clin Neurol Neurosurg. 2013. PMID: 23265561 No abstract available.
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: choumert a. Muscle Nerve. 2021 Mar;63(3):396-401. doi: 10.1002/mus.27102. Epub 2020 Dec 24. Muscle Nerve. 2021. PMID: 33094863
Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study.
Adams D, Polydefkis M, González-Duarte A, Wixner J, Kristen AV, Schmidt HH, Berk JL, Losada López IA, Dispenzieri A, Quan D, Conceição IM, Slama MS, Gillmore JD, Kyriakides T, Ajroud-Driss S, Waddington-Cruz M, Mezei MM, Planté-Bordeneuve V, Attarian S, Mauricio E, Brannagan TH 3rd, Ueda M, Aldinc E, Wang JJ, White MT, Vest J, Berber E, Sweetser MT, Coelho T; patisiran Global OLE study group. Adams D, et al. Lancet Neurol. 2021 Jan;20(1):49-59. doi: 10.1016/S1474-4422(20)30368-9. Epub 2020 Nov 16. Lancet Neurol. 2021. PMID: 33212063 Clinical Trial.
15 results