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Page 1
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.
Ben Ammar A, Petit F, Alexandri N, Gaudon K, Bauché S, Rouche A, Gras D, Fournier E, Koenig J, Stojkovic T, Lacour A, Petiot P, Zagnoli F, Viollet L, Pellegrini N, Orlikowski D, Lazaro L, Ferrer X, Stoltenburg G, Paturneau-Jouas M, Hentati F, Fardeau M, Sternberg D, Hantaï D, Richard P, Eymard B. Ben Ammar A, et al. Among authors: hentati f. J Neurol. 2010 May;257(5):754-66. doi: 10.1007/s00415-009-5405-y. Epub 2009 Dec 11. J Neurol. 2010. PMID: 20012313
The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.
Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D. Richard P, et al. Among authors: hentati f. Neurology. 2008 Dec 9;71(24):1967-72. doi: 10.1212/01.wnl.0000336921.51639.0b. Neurology. 2008. PMID: 19064877
A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.
Ben Ammar A, Soltanzadeh P, Bauché S, Richard P, Goillot E, Herbst R, Gaudon K, Huzé C, Schaeffer L, Yamanashi Y, Higuchi O, Taly A, Koenig J, Leroy JP, Hentati F, Najmabadi H, Kahrizi K, Ilkhani M, Fardeau M, Eymard B, Hantaï D. Ben Ammar A, et al. Among authors: hentati f. PLoS One. 2013;8(1):e53826. doi: 10.1371/journal.pone.0053826. Epub 2013 Jan 9. PLoS One. 2013. PMID: 23326516 Free PMC article.
Aprataxin gene mutations in Tunisian families.
Amouri R, Moreira MC, Zouari M, El Euch G, Barhoumi C, Kefi M, Belal S, Koenig M, Hentati F. Amouri R, et al. Among authors: hentati f. Neurology. 2004 Sep 14;63(5):928-9. doi: 10.1212/01.wnl.0000137044.06573.46. Neurology. 2004. PMID: 15365154
Giant axonal neuropathy.
Hentati F, Hentati E, Amouri R. Hentati F, et al. Among authors: hentati e. Handb Clin Neurol. 2013;115:933-8. doi: 10.1016/B978-0-444-52902-2.00052-7. Handb Clin Neurol. 2013. PMID: 23931822 Review.
238 results