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Page 1
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: chapon f. 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.
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: chapon f. Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3. Circulation. 2019. PMID: 31155932
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: chapon f. 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
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.
Jonson PH, Palmio J, Johari M, Penttilä S, Evilä A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze JF, Masson C, Stojkovic T, Chapon F, Romero NB, Solé G, Ferrer X, Ferreiro A, Hackman P, Richard I, Udd B. Jonson PH, et al. Among authors: chapon f. Eur J Neurol. 2018 May;25(5):790-794. doi: 10.1111/ene.13598. Epub 2018 Mar 30. Eur J Neurol. 2018. PMID: 29437287 Free article.
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
Sanson B, Stalens C, Guien C, Villa L, Eng C, Rabarimeriarijaona S, Bernard R, Cintas P, Solé G, Tiffreau V, Echaniz-Laguna A, Magot A, Juntas Morales R, Boyer FC, Nadaj-Pakleza A, Jacquin-Piques A, Béroud C, Sacconi S; French FSHD registry collaboration group. Sanson B, et al. Orphanet J Rare Dis. 2022 Mar 2;17(1):96. doi: 10.1186/s13023-021-01793-6. Orphanet J Rare Dis. 2022. PMID: 35236385 Free PMC article.
Characteristics of IDH-mutant gliomas with non-canonical IDH mutation.
Poetsch L, Bronnimann C, Loiseau H, Frénel JS, Siegfried A, Seizeur R, Gauchotte G, Cappellen D, Carpentier C, Figarella-Branger D, Eimer S, Meyronet D, Ducray F; POLA network. Poetsch L, et al. J Neurooncol. 2021 Jan;151(2):279-286. doi: 10.1007/s11060-020-03662-x. Epub 2020 Nov 17. J Neurooncol. 2021. PMID: 33205355
The level of activity of the alternative lengthening of telomeres correlates with patient age in IDH-mutant ATRX-loss-of-expression anaplastic astrocytomas.
Grandin N, Pereira B, Cohen C, Billard P, Dehais C, Carpentier C, Idbaih A, Bielle F, Ducray F, Figarella-Branger D, Delattre JY, Sanson M, Lomonte P, Poncet D, Verrelle P, Charbonneau M; POLA network. Grandin N, et al. Acta Neuropathol Commun. 2019 Nov 9;7(1):175. doi: 10.1186/s40478-019-0833-0. Acta Neuropathol Commun. 2019. PMID: 31706351 Free PMC article.
Postirradiation spinal root cavernoma.
Labauge P, Lefloch A, Chapon F, Castelnovo G, Maubon A, Rigau V, Segnarbieux F. Labauge P, et al. Among authors: chapon f. Eur Neurol. 2006;56(4):256-7. doi: 10.1159/000096676. Epub 2006 Oct 23. Eur Neurol. 2006. PMID: 17077638 Free article. No abstract available.
Wernicke encephalopathy and Creutzfeldt-Jakob disease.
Bertrand A, Brandel JP, Grignon Y, Sazdovitch V, Seilhean D, Faucheux B, Privat N, Brault JL, Vital A, Uro-Coste E, Pluot M, Chapon F, Maurage CA, Letournel F, Vespignani H, Place G, Degos CF, Peoc'h K, Haïk S, Hauw JJ. Bertrand A, et al. Among authors: chapon f. J Neurol. 2009 Jun;256(6):904-9. doi: 10.1007/s00415-009-5038-1. Epub 2009 Mar 1. J Neurol. 2009. PMID: 19252796
194 results