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Page 1
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: servais l. 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.
EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.
Gargaun E, Seferian AM, Cardas R, Le Moing AG, Delanoe C, Nectoux J, Nelson I, Bonne G, Bihoreau MT, Deleuze JF, Boland A, Masson C, Servais L, Gidaro T. Gargaun E, et al. Among authors: servais l. J Neurol. 2016 Jul;263(7):1456-8. doi: 10.1007/s00415-016-8153-9. Epub 2016 May 9. J Neurol. 2016. PMID: 27159987 No abstract available.
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Labasse C, Brochier G, Taratuto AL, Cadot B, Rendu J, Monges S, Biancalana V, Quijano-Roy S, Bui MT, Chanut A, Madelaine A, Lacène E, Beuvin M, Amthor H, Servais L, de Feraudy Y, Erro M, Saccoliti M, Neto OA, Fauré J, Lannes B, Laugel V, Coppens S, Lubieniecki F, Bello AB, Laing N, Evangelista T, Laporte J, Böhm J, Romero NB. Labasse C, et al. Among authors: servais l. Acta Neuropathol Commun. 2022 Jul 9;10(1):101. doi: 10.1186/s40478-022-01400-0. Acta Neuropathol Commun. 2022. PMID: 35810298 Free PMC article.
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).
Seferian AM, Malfatti E, Bosson C, Pelletier L, Taytard J, Forin V, Gidaro T, Gargaun E, Carlier P, Fauré J, Romero NB, Rendu J, Servais L. Seferian AM, et al. Among authors: servais l. Neuromuscul Disord. 2016 Oct;26(10):712-716. doi: 10.1016/j.nmd.2016.07.011. Epub 2016 Jul 29. Neuromuscul Disord. 2016. PMID: 27528495 Free article.
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.
Bolocan A, Quijano-Roy S, Seferian AM, Baumann C, Allamand V, Richard P, Estournet B, Carlier R, Cavé H, Gartioux C, Blin N, Le Moing AG, Gidaro T, Germain DP, Fardeau M, Voit T, Servais L, Romero NB. Bolocan A, et al. Among authors: servais l. Neuromuscul Disord. 2014 Nov;24(11):993-8. doi: 10.1016/j.nmd.2014.06.437. Epub 2014 Jun 28. Neuromuscul Disord. 2014. PMID: 25070542
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy.
Villar-Quiles RN, Catervi F, Cabet E, Juntas-Morales R, Genetti CA, Gidaro T, Koparir A, Yüksel A, Coppens S, Deconinck N, Pierce-Hoffman E, Lornage X, Durigneux J, Laporte J, Rendu J, Romero NB, Beggs AH, Servais L, Cossée M, Olivé M, Böhm J, Duband-Goulet I, Ferreiro A. Villar-Quiles RN, et al. Among authors: servais l. Ann Neurol. 2020 Feb;87(2):217-232. doi: 10.1002/ana.25660. Epub 2019 Dec 27. Ann Neurol. 2020. PMID: 31794073 Free PMC article.
Methylome and transcriptome profiling in Myasthenia Gravis monozygotic twins.
Mamrut S, Avidan N, Truffault F, Staun-Ram E, Sharshar T, Eymard B, Frenkian M, Pitha J, de Baets M, Servais L, Berrih-Aknin S, Miller A. Mamrut S, et al. Among authors: servais l. J Autoimmun. 2017 Aug;82:62-73. doi: 10.1016/j.jaut.2017.05.005. Epub 2017 May 24. J Autoimmun. 2017. PMID: 28549776
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, Quijano-Roy S, Romero NB, Fauré J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bönnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F. Zaharieva IT, et al. Among authors: servais l. Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11. Hum Mutat. 2018. PMID: 30168660
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.
Coratti G, Pane M, Brogna C, Ricotti V, Messina S, D'Amico A, Bruno C, Vita G, Berardinelli A, Mazzone E, Magri F, Ricci F, Mongini T, Battini R, Bello L, Pegoraro E, Baranello G, Previtali SC, Politano L, Comi GP, Sansone VA, Donati A, Hogrel JY, Straub V, De Lucia S, Niks E, Servais L, De Groot I, Chesshyre M, Bertini E, Goemans N, Muntoni F, Mercuri E; on behalf on the International DMD Group and the iMDEX Consortium. Coratti G, et al. Among authors: servais l. PLoS One. 2021 Jun 25;16(6):e0253882. doi: 10.1371/journal.pone.0253882. eCollection 2021. PLoS One. 2021. PMID: 34170974 Free PMC article.
255 results