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Page 1
Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.
Mosbah H, Vatier C, Boccara F, Jéru I, Lascols O, Vantyghem MC, Fève B, Donadille B, Sarrazin E, Benabbou S, Inamo J, Ederhy S, Cohen A, Neraud B, Richard P, Picard F, Christin-Maitre S, Redheuil A, Wahbi K, Vigouroux C. Mosbah H, et al. Among authors: richard p. Cells. 2020 Mar 20;9(3):765. doi: 10.3390/cells9030765. Cells. 2020. PMID: 32245113 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: richard p. Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3. Circulation. 2019. PMID: 31155932
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: richard p. 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.
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.
Villar-Quiles RN, von der Hagen M, Métay C, Gonzalez V, Donkervoort S, Bertini E, Castiglioni C, Chaigne D, Colomer J, Cuadrado ML, de Visser M, Desguerre I, Eymard B, Goemans N, Kaindl A, Lagrue E, Lütschg J, Malfatti E, Mayer M, Merlini L, Orlikowski D, Reuner U, Salih MA, Schlotter-Weigel B, Stoetter M, Straub V, Topaloglu H, Urtizberea JA, van der Kooi A, Wilichowski E, Romero NB, Fardeau M, Bönnemann CG, Estournet B, Richard P, Quijano-Roy S, Schara U, Ferreiro A. Villar-Quiles RN, et al. Among authors: richard p. Neurology. 2020 Sep 15;95(11):e1512-e1527. doi: 10.1212/WNL.0000000000010327. Epub 2020 Aug 13. Neurology. 2020. PMID: 32796131 Free PMC article.
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.
Mercuri E, Poppe M, Quinlivan R, Messina S, Kinali M, Demay L, Bourke J, Richard P, Sewry C, Pike M, Bonne G, Muntoni F, Bushby K. Mercuri E, et al. Among authors: richard p. Arch Neurol. 2004 May;61(5):690-4. doi: 10.1001/archneur.61.5.690. Arch Neurol. 2004. PMID: 15148145
Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation.
Coutance G, Labombarda F, Cauderlier E, Belin A, Richard P, Bonne G, Chapon F. Coutance G, et al. Among authors: richard p. Congenit Heart Dis. 2013 Jul-Aug;8(4):E127-9. doi: 10.1111/j.1747-0803.2012.00695.x. Epub 2012 Aug 7. Congenit Heart Dis. 2013. PMID: 22883396
Multicenter Experience With Catheter Ablation for Ventricular Tachycardia in Lamin A/C Cardiomyopathy.
Kumar S, Androulakis AF, Sellal JM, Maury P, Gandjbakhch E, Waintraub X, Rollin A, Richard P, Charron P, Baldinger SH, Macintyre CJ, Koplan BA, John RM, Michaud GF, Zeppenfeld K, Sacher F, Lakdawala NK, Stevenson WG, Tedrow UB. Kumar S, et al. Among authors: richard p. Circ Arrhythm Electrophysiol. 2016 Aug;9(8):e004357. doi: 10.1161/CIRCEP.116.004357. Circ Arrhythm Electrophysiol. 2016. PMID: 27506821
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.
Ader F, De Groote P, Réant P, Rooryck-Thambo C, Dupin-Deguine D, Rambaud C, Khraiche D, Perret C, Pruny JF, Mathieu-Dramard M, Gérard M, Troadec Y, Gouya L, Jeunemaitre X, Van Maldergem L, Hagège A, Villard E, Charron P, Richard P. Ader F, et al. Among authors: richard p. Clin Genet. 2019 Oct;96(4):317-329. doi: 10.1111/cge.13594. Epub 2019 Jul 18. Clin Genet. 2019. PMID: 31245841
1,021 results