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Page 1
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Jacquier A, Theuriet J, Fontaine F, Mosbach V, Lacoste N, Ribault S, Risson V, Carras J, Coudert L, Simonet T, Latour P, Stojkovic T, Piard J, Cosson A, Lesca G, Bouhour F, Allouche S, Puccio H, Pegat A, Schaeffer L. Jacquier A, et al. Among authors: ribault s. Brain. 2023 Aug 1;146(8):3470-3483. doi: 10.1093/brain/awac453. Brain. 2023. PMID: 36454683 Free PMC article.
Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.
Le Goff L, Seferian A, Phelep A, Rippert P, Mathieu ML, Cances C, de Lattre C, Durigneux J, Gousse G, Vincent-Genod D, Ribault S, Gómez García de la Banda M, Quijano-Roy S, Sarret C, Servais L, Vuillerot C. Le Goff L, et al. Among authors: ribault s. Neurol Sci. 2023 Mar;44(3):1139. doi: 10.1007/s10072-022-06522-w. Neurol Sci. 2023. PMID: 36418612 Free article. No abstract available.
Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.
Le Goff L, Seferian A, Phelep A, Rippert P, Mathieu ML, Cances C, de Lattre C, Durigneux J, Gousse G, Vincent-Genod D, Ribault S, Gomez Garcia de la Banda M, Quijano-Roy S, Sarret C, Servais L, Vuillerot C. Le Goff L, et al. Among authors: ribault s. Neurol Sci. 2023 Jan;44(1):329-337. doi: 10.1007/s10072-022-06403-2. Epub 2022 Sep 29. Neurol Sci. 2023. PMID: 36175810
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Jacquier A, Risson V, Simonet T, Roussange F, Lacoste N, Ribault S, Carras J, Theuriet J, Girard E, Grosjean I, Le Goff L, Kröger S, Meltoranta J, Bauché S, Sternberg D, Fournier E, Kostera-Pruszczyk A, O'Connor E, Eymard B, Lochmüller H, Martinat C, Schaeffer L. Jacquier A, et al. Among authors: ribault s. Acta Neuropathol. 2022 Oct;144(4):707-731. doi: 10.1007/s00401-022-02475-8. Epub 2022 Aug 10. Acta Neuropathol. 2022. PMID: 35948834 Free PMC article.
27 results