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Page 1
Type I hyperprolinemia: genotype/phenotype correlations.
Guilmatre A, Legallic S, Steel G, Willis A, Di Rosa G, Goldenberg A, Drouin-Garraud V, Guet A, Mignot C, Des Portes V, Valayannopoulos V, Van Maldergem L, Hoffman JD, Izzi C, Espil-Taris C, Orcesi S, Bonafé L, Le Galloudec E, Maurey H, Ioos C, Afenjar A, Blanchet P, Echenne B, Roubertie A, Frebourg T, Valle D, Campion D. Guilmatre A, et al. Hum Mutat. 2010 Aug;31(8):961-5. doi: 10.1002/humu.21296. Hum Mutat. 2010. PMID: 20524212
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.
Fontaine M, Kim I, Dessein AF, Mention-Mulliez K, Dobbelaere D, Douillard C, Sole G, Schiff M, Jaussaud R, Espil-Taris C, Boutron A, Wuyts W, Acquaviva C, Vianey-Saban C, Roland D, Joncquel-Chevalier Curt M, Vamecq J. Fontaine M, et al. Mol Genet Metab. 2018 Apr;123(4):441-448. doi: 10.1016/j.ymgme.2018.02.005. Epub 2018 Feb 12. Mol Genet Metab. 2018. PMID: 29478820
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, Pichard S, Brassier A, Schiff M, Feillet F, Rollier P, Mention K, Dobbelaere D, Fouilhoux A, Espil-Taris C, Eyer D, Huet F, Walther-Louvier U, Barth M, Chevret L, Kuster A, Lefranc J, Neveu J, Pitelet G, Ropars J, Rivier F, Roubertie A, Touati G, Vanhulle C, Tardieu E, Caillaud C, Froissart R, Champeaux M, Labarthe F, Chabrol B. Tardieu M, et al. Among authors: espil taris c. Eur J Neurol. 2023 Sep;30(9):2828-2837. doi: 10.1111/ene.15894. Epub 2023 Jun 10. Eur J Neurol. 2023. PMID: 37235686 Free article.
Severe neonatal myasthenia due to maternal anti-MuSK antibodies.
Béhin A, Mayer M, Kassis-Makhoul B, Jugie M, Espil-Taris C, Ferrer X, Chatenoud L, Laforêt P, Eymard B. Béhin A, et al. Neuromuscul Disord. 2008 Jun;18(6):443-6. doi: 10.1016/j.nmd.2008.03.006. Epub 2008 Apr 22. Neuromuscul Disord. 2008. PMID: 18434154
A 10-year-old boy with dark urine and acute kidney injury.
Joussain C, Lamireau D, Espil-Taris C, De Précigout V, Vianey-Saban C, Llanas B, Harambat J. Joussain C, et al. Pediatr Nephrol. 2011 Aug;26(8):1229-33. doi: 10.1007/s00467-011-1763-7. Epub 2011 Jan 27. Pediatr Nephrol. 2011. PMID: 21271260 No abstract available.
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.
Bannwarth S, Procaccio V, Lebre AS, Jardel C, Chaussenot A, Hoarau C, Maoulida H, Charrier N, Gai X, Xie HM, Ferre M, Fragaki K, Hardy G, Mousson de Camaret B, Marlin S, Dhaenens CM, Slama A, Rocher C, Paul Bonnefont J, Rötig A, Aoutil N, Gilleron M, Desquiret-Dumas V, Reynier P, Ceresuela J, Jonard L, Devos A, Espil-Taris C, Martinez D, Gaignard P, Le Quan Sang KH, Amati-Bonneau P, Falk MJ, Florentz C, Chabrol B, Durand-Zaleski I, Paquis-Flucklinger V. Bannwarth S, et al. J Med Genet. 2013 Oct;50(10):704-14. doi: 10.1136/jmedgenet-2013-101604. Epub 2013 Jul 11. J Med Genet. 2013. PMID: 23847141 Free PMC article.
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Lerat J, Magdelaine C, Roux AF, Darnaud L, Beauvais-Dzugan H, Naud S, Richard L, Derouault P, Ghorab K, Magy L, Vallat JM, Cintas P, Bieth E, Arne-Bes MC, Goizet C, Espil-Taris C, Journel H, Toutain A, Urtizberea JA, Boespflug-Tanguy O, Laffargue F, Corcia P, Pasquier L, Fradin M, Napuri S, Ciron J, Boulesteix JM, Sturtz F, Lia AS. Lerat J, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e839. doi: 10.1002/mgg3.839. Epub 2019 Aug 8. Mol Genet Genomic Med. 2019. PMID: 31393079 Free PMC article.
A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases.
Pisella LI, Fernandes S, Solé G, Stojkovic T, Tard C, Chanson JB, Bouhour F, Salort-Campana E, Beaudonnet G, Debergé L, Duval F, Grapperon AM, Masingue M, Nadaj-Pakleza A, Péréon Y, Audic F, Behin A, Friedman D, Magot A, Noury JB, Souvannanorath S, Wahbi K, Antoine JC, Bigaut K, Camdessanché JP, Cintas P, Debs R, Espil-Taris C, Kremer L, Kuntzer T, Laforêt P, Laugel V, Mallaret M, Michaud M, Nollet S, Svahn J, Vicart S, Villar-Quiles RN, Desguerre I, Adams D, Segovia-Kueny S, Merret G, Hammouda E, Molon A, Attarian S. Pisella LI, et al. Among authors: espil taris c. Orphanet J Rare Dis. 2021 Oct 26;16(1):450. doi: 10.1186/s13023-021-02090-y. Orphanet J Rare Dis. 2021. PMID: 34702344 Free PMC article.
31 results