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Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
Lesca G, Boutry-Kryza N, de Toffol B, Milh M, Steschenko D, Lemesle-Martin M, Maillard L, Foletti G, Rudolf G, Nielsen JE, á Rogvi-Hansen B, Erdal J, Mancini J, Thauvin-Robinet C, M'Rrabet A, Ville D, Szepetowski P, Raffo E, Hirsch E, Ryvlin P, Calender A, Genton P. Lesca G, et al. Among authors: mancini j. Epilepsia. 2010 Sep;51(9):1691-8. doi: 10.1111/j.1528-1167.2010.02692.x. Epub 2010 Aug 5. Epilepsia. 2010. PMID: 20738377 Free article.
Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.
Delcourt M, Riant F, Mancini J, Milh M, Navarro V, Roze E, Humbertclaude V, Korff C, Des Portes V, Szepetowski P, Doummar D, Echenne B, Quintin S, Leboucq N, Singh Amrathlal R, Rochette J, Roubertie A. Delcourt M, et al. Among authors: mancini j. J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):782-5. doi: 10.1136/jnnp-2014-309025. Epub 2015 Jan 16. J Neurol Neurosurg Psychiatry. 2015. PMID: 25595153
[Handicap: definition and classification].
Chabrol B, Halbert C, Milh M, Mancini J. Chabrol B, et al. Among authors: mancini j. Arch Pediatr. 2009 Jun;16(6):912-4. doi: 10.1016/S0929-693X(09)74201-0. Arch Pediatr. 2009. PMID: 19541219 French. No abstract available.
The incidence of Rett syndrome in France.
Bienvenu T, Philippe C, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Feingold J, Chelly J, Villard L. Bienvenu T, et al. Among authors: mancini j. Pediatr Neurol. 2006 May;34(5):372-5. doi: 10.1016/j.pediatrneurol.2005.10.013. Pediatr Neurol. 2006. PMID: 16647997
[GLUT-1 deficiency syndrome or De Vivo disease: a case report].
Ticus I, Cano A, Villeneuve N, Milh M, Mancini J, Chabrol B. Ticus I, et al. Among authors: mancini j. Arch Pediatr. 2008 Aug;15(8):1296-9. doi: 10.1016/j.arcped.2008.04.024. Epub 2008 Jun 16. Arch Pediatr. 2008. PMID: 18556184 French.
[Epilepsy and mitochondrial diseases: retrospective study on 53 epileptic children].
Caietta E, Cano A, Halbert C, Hugonenq C, Mancini J, Milh M, Lépine A, Villeneuve N, Chaussenot A, Paquis-Flucklinger V, Chabrol B. Caietta E, et al. Among authors: mancini j. Arch Pediatr. 2012 Aug;19(8):794-802. doi: 10.1016/j.arcped.2012.05.004. Epub 2012 Jul 11. Arch Pediatr. 2012. PMID: 22789745 French.
[Epileptic seizures in childhood: from seizure type to diagnosis].
Milh M, Ticus I, Villeneuve N, Hugonencq C, Mancini J, Chabrol B. Milh M, et al. Among authors: mancini j. Arch Pediatr. 2008 Feb;15(2):216-22. doi: 10.1016/j.arcped.2007.11.007. Epub 2008 Jan 14. Arch Pediatr. 2008. PMID: 18248967 French.
686 results