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2010 1
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Page 1
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.
Theuriet J, Fernandez-Eulate G, Latour P, Stojkovic T, Masingue M, Vidoni L, Bernard E, Jacquier A, Schaeffer L, Salort-Campana E, Chanson JB, Pakleza AN, Kaminsky AL, Svahn J, Manel V, Bouhour F, Pegat A. Theuriet J, et al. Among authors: manel v. Eur J Hum Genet. 2024 Jan;32(1):37-43. doi: 10.1038/s41431-023-01407-8. Epub 2023 Jun 19. Eur J Hum Genet. 2024. PMID: 37337091 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.
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.
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
Viguier A, Lauwers-Cances V, Cintas P, Manel V, Peudenier S, Desguerre I, Quijano-Roy S, Vanhulle C, Fradin M, Isapof A, Jokic M, Mathieu-Dramard M, Dieterich K, Petit F, Magdelaine C, Giuliano F, Gras D, Haye D, Nizon M, Magen M, Bieth E, Cances C. Viguier A, et al. Among authors: manel v. Neuromuscul Disord. 2019 Feb;29(2):114-126. doi: 10.1016/j.nmd.2018.10.002. Epub 2018 Oct 31. Neuromuscul Disord. 2019. PMID: 30598237
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
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: manel v. Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3. Circulation. 2019. PMID: 31155932
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
Nguyen K, Broucqsault N, Chaix C, Roche S, Robin JD, Vovan C, Gerard L, Mégarbané A, Urtizberea JA, Bellance R, Barnérias C, David A, Eymard B, Fradin M, Manel V, Sacconi S, Tiffreau V, Zagnoli F, Cuisset JM, Salort-Campana E, Attarian S, Bernard R, Lévy N, Magdinier F. Nguyen K, et al. Among authors: manel v. J Med Genet. 2019 Sep;56(9):590-601. doi: 10.1136/jmedgenet-2018-105949. Epub 2019 Apr 22. J Med Genet. 2019. PMID: 31010831
Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: Neurophysiological data and proposed electrodiagnostic criteria.
Robert-Varvat F, Jousserand G, Bouhour F, Vial C, Cintas P, Echaniz-Laguna A, Delmont E, Clavelou P, Chauplannaz G, Jomir L, Pereon Y, Leonard-Louis S, Manel V, Antoine JC, Lacour A, Camdessanche JP. Robert-Varvat F, et al. Among authors: manel v. Muscle Nerve. 2018 Feb;57(2):217-221. doi: 10.1002/mus.25666. Epub 2017 Jun 11. Muscle Nerve. 2018. PMID: 28407266
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C. Marttila M, et al. Among authors: manel v. Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1. Hum Mutat. 2014. PMID: 24692096 Free PMC article.
15 results