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Year Number of Results
2003 1
2010 2
2013 5
2014 3
2015 3
2016 1
2017 2
2018 4
2019 5
2021 1
2022 1
2023 3
2024 3
2025 3

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30 results

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Page 1
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: manel v. Brain. 2024 Nov 4;147(11):3849-3862. doi: 10.1093/brain/awae124. Brain. 2024. PMID: 38696726 Free PMC article.
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Jacob M, Kölbel H, Harrer P, Kopajtich R, Munot P, Achleitner MT, Badmann S, Brugger M, Brunet T, Bonne G, Codina M, Ebner L, Eshraghi P, Eyring K, Farhat AS, Feichtinger RG, Graf E, Marcé-Grau A, Hahn A, Houlden H, Karimiani EG, Manel V, Mayerhanser K, Nectoux J, Nelson I, Phadke R, Prokisch H, Sadeghian S, Saparov A, Schänzer A, Schara-Schmidt U, Schmidt J, Schuler R, Sewry C, Shariati G, Slanz S, Smirnov D, Sukenik-Halevy R, Tajsharghi H, Toosi MB, Trujillano L, Weis J, Wilson LC, Ben Yaou R, Zamani M, Zech M, Zschüntzsch J, Kornak U, Goméz-Andrés D, Maroofian R, Winkelmann J, Roos A, Distelmaier F, Mayr JA, Wagner M. Jacob M, et al. Among authors: manel v. Brain. 2025 Jun 11:awaf227. doi: 10.1093/brain/awaf227. Online ahead of print. Brain. 2025. PMID: 40497796
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.
Gérard L, Delourme M, Tardy C, Ganne B, Perrin P, Chaix C, Trani JP, Eudes N, Laberthonnière C, Bertaux K, Missirian C, Bassez G, Behin A, Cintas P, Cluse F, De La Cruz E, Delmont E, Evangelista T, Fradin M, Hadouiri N, Kouton L, Laforêt P, Lefeuvre C, Magot A, Manel V, Nectoux J, Pegat A, Sole G, Spinazzi M, Stojkovic T, Svahn J, Tard C, Thauvin C, Verebi C, Salort Campana E, Attarian S, Nguyen K, Badache A, Bernard R, Magdinier F. Gérard L, et al. Among authors: manel v. Eur J Hum Genet. 2025 Jun;33(6):784-792. doi: 10.1038/s41431-024-01781-x. Epub 2024 Dec 26. Eur J Hum Genet. 2025. PMID: 39725690 Free article.
Intraoperative neurophysiologic monitoring in spine surgery. Developments and state of the art in France in 2011.
Gavaret M, Jouve JL, Péréon Y, Accadbled F, André-Obadia N, Azabou E, Blondel B, Bollini G, Delécrin J, Farcy JP, Fournet-Fayard J, Garin C, Henry P, Manel V, Mutschler V, Perrin G, Sales de Gauzy J; French Society of Spine Surgery SFCR. Gavaret M, et al. Among authors: manel v. Orthop Traumatol Surg Res. 2013 Oct;99(6 Suppl):S319-27. doi: 10.1016/j.otsr.2013.07.005. Epub 2013 Aug 23. Orthop Traumatol Surg Res. 2013. PMID: 23972785 Free article. Review.
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.
Balog J, Goossens R, Lemmers RJLF, Straasheijm KR, van der Vliet PJ, Heuvel AVD, Cambieri C, Capet N, Feasson L, Manel V, Contet J, Kriek M, Donlin-Smith CM, Ruivenkamp CAL, Heard P, Tapscott SJ, Cody JD, Tawil R, Sacconi S, van der Maarel SM. Balog J, et al. Among authors: manel v. J Med Genet. 2018 Jul;55(7):469-478. doi: 10.1136/jmedgenet-2017-105153. Epub 2018 Mar 21. J Med Genet. 2018. PMID: 29563141 Free PMC article.
Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells-derived innervated muscle fibres.
Laberthonnière C, Novoa-Del-Toro EM, Delourme M, Chevalier R, Broucqsault N, Mazaleyrat K, Streichenberger N, Manel V, Bernard R, Salort Campana E, Attarian S, Nguyen K, Robin JD, Baudot A, Magdinier F. Laberthonnière C, et al. Among authors: manel v. J Cachexia Sarcopenia Muscle. 2022 Feb;13(1):621-635. doi: 10.1002/jcsm.12835. Epub 2021 Dec 3. J Cachexia Sarcopenia Muscle. 2022. PMID: 34859613 Free PMC article.
[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].
Eymard B, Stojkovic T, Sternberg D, Richard P, Nicole S, Fournier E, Béhin A, Laforêt P, Servais L, Romero N, Fardeau M, Hantaï D; Membres du réseau national Syndromes Myasthéniques Congénitaux. Eymard B, et al. Rev Neurol (Paris). 2013 Feb;169 Suppl 1:S45-55. doi: 10.1016/S0035-3787(13)70060-2. Rev Neurol (Paris). 2013. PMID: 23452772 Review. French.
A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy.
Barrois R, Barnerias C, Deladrière E, Leloup-Germa V, Tervil B, Audic F, Boulay C, Cances C, Cintas P, Davion JB, Espil-Taris C, Manel V, Pereon Y, Piarroux J, Quijano Roy S, Vuillerot C, Walther-Louvier U, Desguerre I, Gitiaux C. Barrois R, et al. Among authors: manel v. Neuromuscul Disord. 2023 Apr;33(4):309-314. doi: 10.1016/j.nmd.2023.02.004. Epub 2023 Feb 11. Neuromuscul Disord. 2023. PMID: 36881951
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.
Lagrue E, Dogan C, De Antonio M, Audic F, Bach N, Barnerias C, Bellance R, Cances C, Chabrol B, Cuisset JM, Desguerre I, Durigneux J, Espil C, Fradin M, Héron D, Isapof A, Jacquin-Piques A, Journel H, Laroche-Raynaud C, Laugel V, Magot A, Manel V, Mayer M, Péréon Y, Perrier-Boeswillald J, Peudenier S, Quijano-Roy S, Ragot-Mandry S, Richelme C, Rivier F, Sabouraud P, Sarret C, Testard H, Vanhulle C, Walther-Louvier U, Gherardi R, Hamroun D, Bassez G. Lagrue E, et al. Among authors: manel v. Neurology. 2019 Feb 19;92(8):e852-e865. doi: 10.1212/WNL.0000000000006948. Epub 2019 Jan 18. Neurology. 2019. PMID: 30659139
30 results