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142 results
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Congenital muscular dystrophy with merosin deficiency.
Tomé FM, Evangelista T, Leclerc A, Sunada Y, Manole E, Estournet B, Barois A, Campbell KP, Fardeau M. Tomé FM, et al. Among authors: barois a. C R Acad Sci III. 1994 Apr;317(4):351-7. C R Acad Sci III. 1994. PMID: 8000914
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
Viollet L, Zarhrate M, Maystadt I, Estournet-Mathiaut B, Barois A, Desguerre I, Mayer M, Chabrol B, LeHeup B, Cusin V, Billette De Villemeur T, Bonneau D, Saugier-Veber P, Touzery-De Villepin A, Delaubier A, Kaplan J, Jeanpierre M, Feingold J, Munnich A. Viollet L, et al. Among authors: barois a. Eur J Hum Genet. 2004 Jun;12(6):483-8. doi: 10.1038/sj.ejhg.5201177. Eur J Hum Genet. 2004. PMID: 15054395
Evoked potentials in spinal muscular atrophy.
Cheliout-Heraut F, Barois A, Urtizberea A, Viollet L, Estournet-Mathiaud B. Cheliout-Heraut F, et al. Among authors: barois a. J Child Neurol. 2003 Jun;18(6):383-90. doi: 10.1177/08830738030180061101. J Child Neurol. 2003. PMID: 12886971
Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy.
Romero NB, Braun S, Benveniste O, Leturcq F, Hogrel JY, Morris GE, Barois A, Eymard B, Payan C, Ortega V, Boch AL, Lejean L, Thioudellet C, Mourot B, Escot C, Choquel A, Recan D, Kaplan JC, Dickson G, Klatzmann D, Molinier-Frenckel V, Guillet JG, Squiban P, Herson S, Fardeau M. Romero NB, et al. Among authors: barois a. Hum Gene Ther. 2004 Nov;15(11):1065-76. doi: 10.1089/hum.2004.15.1065. Hum Gene Ther. 2004. PMID: 15610607 Clinical Trial.
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Lévy N, Bonne G. Ben Yaou R, et al. Among authors: barois a. Eur J Hum Genet. 2011 Jun;19(6):647-54. doi: 10.1038/ejhg.2010.256. Epub 2011 Jan 26. Eur J Hum Genet. 2011. PMID: 21267004 Free PMC article.
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H. Nicole S, et al. Among authors: barois a. Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20. Brain. 2014. PMID: 24951643
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G, Estournet B. Quijano-Roy S, et al. Among authors: barois a. Ann Neurol. 2008 Aug;64(2):177-86. doi: 10.1002/ana.21417. Ann Neurol. 2008. PMID: 18551513
142 results