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Page 1
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.
Biancalana V, Rendu J, Chaussenot A, Mecili H, Bieth E, Fradin M, Mercier S, Michaud M, Nougues MC, Pasquier L, Sacconi S, Romero NB, Marcorelles P, Authier FJ, Gelot Bernabe A, Uro-Coste E, Cances C, Isidor B, Magot A, Minot-Myhie MC, Péréon Y, Perrier-Boeswillwald J, Bretaudeau G, Dondaine N, Bouzenard A, Pizzimenti M, Eymard B, Ferreiro A, Laporte J, Fauré J, Böhm J. Biancalana V, et al. Among authors: nougues mc. Acta Neuropathol Commun. 2021 Sep 17;9(1):155. doi: 10.1186/s40478-021-01254-y. Acta Neuropathol Commun. 2021. PMID: 34535181 Free PMC article.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S. Bauché S, et al. Among authors: nougues mc. Am J Hum Genet. 2016 Sep 1;99(3):753-761. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569547 Free PMC article.
Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies.
Guimarães-Costa R, Fernández-Eulate G, Wahbi K, Leturcq F, Malfatti E, Behin A, Leonard-Louis S, Desguerre I, Barnerias C, Nougues MC, Isapof A, Estournet-Mathiaud B, Quijano-Roy S, Fayssoil A, Orlikowski D, Fauroux B, Richard I, Semplicini C, Romero NB, Querin G, Eymard B, Laforêt P, Stojkovic T. Guimarães-Costa R, et al. Among authors: nougues mc. Eur J Neurol. 2021 Feb;28(2):660-669. doi: 10.1111/ene.14592. Epub 2020 Nov 21. Eur J Neurol. 2021. PMID: 33051934 Free article.
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.
Bauché S, Sureau A, Sternberg D, Rendu J, Buon C, Messéant J, Boëx M, Furling D, Fauré J, Latypova X, Gelot AB, Mayer M, Mary P, Whalen S, Fournier E, Cloix I, Remerand G, Laffargue F, Nougues MC, Fontaine B, Eymard B, Isapof A, Strochlic L. Bauché S, et al. Among authors: nougues mc. Neurol Genet. 2020 Dec 3;6(6):e534. doi: 10.1212/NXG.0000000000000534. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33659639 Free PMC article.
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.
Desguerre I, Barrois R, Audic F, Barnerias C, Chabrol B, Davion JB, Durigneux J, Espil-Taris C, Gomez-Garcia de la Banda M, Guichard M, Isapof A, Nougues MC, Laugel V, Le Goff L, Mercier S, Pervillé A, Richelme C, Thibaud M, Sarret C, Schweitzer C, Testard H, Trommsdorff V, Vanhulle C, Walther-Louvier U, Altuzarra C, Chouchane M, Ropars J, Quijano-Roy S, Cances C. Desguerre I, et al. Among authors: nougues mc. Orphanet J Rare Dis. 2024 Sep 13;19(1):344. doi: 10.1186/s13023-024-03326-3. Orphanet J Rare Dis. 2024. PMID: 39272200 Free PMC article.
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C. Mignot C, et al. Among authors: nougues mc. J Med Genet. 2015 Jan;52(1):61-70. doi: 10.1136/jmedgenet-2014-102748. Epub 2014 Nov 19. J Med Genet. 2015. PMID: 25411445
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C; DDD Study; Kini U, Philippe C. Piard J, et al. Among authors: nougues mc. Genet Med. 2019 Jun;21(6):1308-1318. doi: 10.1038/s41436-018-0339-3. Epub 2018 Oct 25. Genet Med. 2019. PMID: 30356099 Free PMC article. Review.
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C; DDD Study; Kini U, Philippe C. Piard J, et al. Among authors: nougues mc. Genet Med. 2019 Jul;21(7):1667-1671. doi: 10.1038/s41436-019-0460-y. Genet Med. 2019. PMID: 30783266 Free PMC article.
New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.
Masingue M, Cattaneo O, Wolff N, Buon C, Sternberg D, Euchparmakian M, Boex M, Behin A, Mamchaouhi K, Maisonobe T, Nougues MC, Isapof A, Fontaine B, Messéant J, Eymard B, Strochlic L, Bauché S. Masingue M, et al. Among authors: nougues mc. Sci Rep. 2023 Aug 28;13(1):14054. doi: 10.1038/s41598-023-41008-5. Sci Rep. 2023. PMID: 37640745 Free PMC article.
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type.
Audic F, Dubois SM, Durigneux J, Barnerias C, Isapof A, Nougues MC, Davion JB, Richelme C, Vuillerot C, Legoff L, Sabouraud P, Cances C, Laugel V, Ropars J, Espil-Taris C, Trommsdorff V, Pervillé A, Garcia-de-la-Banda MG, Testard H, Chouchane M, Walther-Louvier U, Schweizer C, Halbert C, Badri M, Quijano-Roy S, Chabrol B, Desguerre I. Audic F, et al. Among authors: nougues mc. Arch Pediatr. 2024 Feb;31(2):117-123. doi: 10.1016/j.arcped.2023.10.009. Epub 2023 Dec 21. Arch Pediatr. 2024. PMID: 38135619
30 results