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Page 1
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
Vecten M, Pion E, Bartoli M, Morales RJ, Sternberg D, Rendu J, Stojkovic T, Bourdain CA, Métay C, Richard I, Cerino M, Milh M, Campana-Salort E, Gorokhova S, Levy N, Latypova X, Bonne G, Biancalana V, Petit F, Molon A, Perrin A, Laforêt P, Attarian S, Krahn M, Cossée M. Vecten M, et al. Among authors: metay c. Int J Mol Sci. 2022 Jul 31;23(15):8506. doi: 10.3390/ijms23158506. Int J Mol Sci. 2022. PMID: 35955641 Free PMC article.
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.
Krahn M, Biancalana V, Cerino M, Perrin A, Michel-Calemard L, Nectoux J, Leturcq F, Bouchet-Séraphin C, Acquaviva-Bourdain C, Campana-Salort E, Molon A, Urtizberea JA, Audic F, Chabrol B, Pouget J, Froissart R, Melki J, Rendu J, Petit F, Métay C, Seta N, Sternberg D, Fauré J, Cossée M. Krahn M, et al. Among authors: metay c. Eur J Hum Genet. 2019 Mar;27(3):349-352. doi: 10.1038/s41431-018-0305-1. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552423 Free PMC article.
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.
Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala NK, Stalens C, Sacher F, Babuty D, Trochu JN, Moubarak G, Savvatis K, Porcher R, Laforêt P, Fayssoil A, Marijon E, Stojkovic T, Béhin A, Leonard-Louis S, Sole G, Labombarda F, Richard P, Metay C, Quijano-Roy S, Dabaj I, Klug D, Vantyghem MC, Chevalier P, Ambrosi P, Salort E, Sadoul N, Waintraub X, Chikhaoui K, Mabo P, Combes N, Maury P, Sellal JM, Tedrow UB, Kalman JM, Vohra J, Androulakis AFA, Zeppenfeld K, Thompson T, Barnerias C, Bécane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Boulé S, Brehin AC, Chapon F, Cintas P, Cuisset JM, Davy JM, De Sandre-Giovannoli A, Demurger F, Desguerre I, Dieterich K, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Ferrer X, Francannet C, Fradin M, Gaborit B, Gay A, Hagège A, Isapof A, Jeru I, Juntas Morales R, Lagrue E, Lamblin N, Lascols O, Laugel V, Lazarus A, Leturcq F, Levy N, Magot A, Manel V, Martins R, Mayer M, Mercier S, Meune C, Michaud M, Minot-Myhié MC, Muchir A, Nadaj-Pakleza A, Péréon Y, Petiot P, Petit F, Praline J, Rollin A, Sabouraud P, Sarret C, Schaeffer S, Taithe F, Tard C, Tiffreau V, Toutain A, Vatier C, Walther-Louvier U, Eymard B, Charron … See abstract for full author list ➔ Wahbi K, et al. Among authors: metay c. Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3. Circulation. 2019. PMID: 31155932
A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency.
Perrin A, Metay C, Villanova M, Carlier RY, Pegoraro E, Juntas Morales R, Stojkovic T, Richard I, Richard P, Romero NB, Granzier H, Koenig M, Malfatti E, Cossée M. Perrin A, et al. Among authors: metay c. Ann Clin Transl Neurol. 2020 May;7(5):846-854. doi: 10.1002/acn3.51031. Epub 2020 Apr 19. Ann Clin Transl Neurol. 2020. PMID: 32307885 Free PMC article.
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
Villar-Quiles RN, Donkervoort S, de Becdelièvre A, Gartioux C, Jobic V, Foley AR, McCarty RM, Hu Y, Menassa R, Michel L, Gousse G, Lacour A, Petiot P, Streichenberger N, Choumert A, Declerck L, Urtizberea JA, Sole G, Furby A, Cérino M, Krahn M, Campana-Salort E, Ferreiro A, Eymard B, Bönnemann CG, Bharucha-Goebel D, Sumner CJ, Connolly AM, Richard P, Allamand V, Métay C, Stojkovic T. Villar-Quiles RN, et al. Among authors: metay c. J Neuromuscul Dis. 2021;8(4):633-645. doi: 10.3233/JND-200577. J Neuromuscul Dis. 2021. PMID: 33749658
Novel dominant distal titinopathy phenotype associated with copy number variation.
Perrin A, Juntas Morales R, Chapon F, Thèze C, Lacourt D, Pégeot H, Uro-Coste E, Giovannini D, Leboucq N, Mallaret M, Lagrange E, Rigau V, Gaudon K, Richard P, Koenig M, Métay C, Cossée M. Perrin A, et al. Among authors: metay c. Ann Clin Transl Neurol. 2021 Sep;8(9):1906-1912. doi: 10.1002/acn3.51434. Epub 2021 Jul 27. Ann Clin Transl Neurol. 2021. PMID: 34312993 Free PMC article.
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Juntas Morales R, Perrin A, Solé G, Lacourt D, Pegeot H, Walther-Louvier U, Cintas P, Cances C, Espil C, Theze C, Zenagui R, Yauy K, Cosset E, Renard D, Rigau V, Maues de Paula A, Uro-Coste E, Arne-Bes MC, Martin Négrier ML, Leboucq N, Acket B, Malfatti E, Biancalana V, Metay C, Richard P, Rendu J, Rivier F, Koenig M, Cossée M. Juntas Morales R, et al. Among authors: metay c. Genes (Basel). 2021 Jul 31;12(8):1199. doi: 10.3390/genes12081199. Genes (Basel). 2021. PMID: 34440373 Free PMC article.
45 results