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Page 1
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: m rrabet a, milh m. 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.
GluK2 Is a Target for Gene Therapy in Drug-Resistant Temporal Lobe Epilepsy.
Boileau C, Deforges S, Peret A, Scavarda D, Bartolomei F, Giles A, Partouche N, Gautron J, Viotti J, Janowitz H, Penchet G, Marchal C, Lagarde S, Trebuchon A, Villeneuve N, Rumi J, Marissal T, Khazipov R, Khalilov I, Martineau F, Maréchal M, Lepine A, Milh M, Figarella-Branger D, Dougy E, Tong S, Appay R, Baudouin S, Mercer A, Smith JB, Danos O, Porter R, Mulle C, Crépel V. Boileau C, et al. Among authors: milh m. Ann Neurol. 2023 Oct;94(4):745-761. doi: 10.1002/ana.26723. Epub 2023 Jul 6. Ann Neurol. 2023. PMID: 37341588
Familial KCNQ2 mutation: a psychiatric perspective.
Iftimovici A, Charmet A, Desnous B, Ory A, Delorme R, Coutton C, Devillard F, Milh M, Maruani A. Iftimovici A, et al. Among authors: milh m. Psychiatr Genet. 2024 Feb 1;34(1):24-27. doi: 10.1097/YPG.0000000000000360. Epub 2023 Dec 13. Psychiatr Genet. 2024. PMID: 38108335 Free PMC article.
Overview of therapeutic options for epilepsy.
Kuchenbuch M, Chiron C, Milh M. Kuchenbuch M, et al. Among authors: milh m. Arch Pediatr. 2022 Dec;29(5S):5S14-5S19. doi: 10.1016/S0929-693X(22)00285-8. Arch Pediatr. 2022. PMID: 36585066 Review.
Impact of cardiac surgical timing on the neurodevelopmental outcomes of newborns with Complex congenital heart disease (CHD).
Lenoir M, Beretti T, Testud B, Resseguier N, Gauthier K, Fouilloux V, Gran C, Paoli F, El-Louali F, Aldebert P, Blanc J, Soulatges C, Al-Dybiat S, Carles G, Wanert C, Rozalen W, Lebel S, Arnaud S, Santelli D, Allary C, Peyre M, Grandvuillemin I, Desroberts C, Alaoui MB, Boubred F, Michel F, Ovaert C, Milh M, François C, Desnous B. Lenoir M, et al. Among authors: milh m. Front Pediatr. 2023 Mar 23;11:1003585. doi: 10.3389/fped.2023.1003585. eCollection 2023. Front Pediatr. 2023. PMID: 37033180 Free PMC article.
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: milh m. Nat Commun. 2023 Jun 9;14(1):3403. doi: 10.1038/s41467-023-39040-0. Nat Commun. 2023. PMID: 37296101 Free PMC article.
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: milh m. Nat Commun. 2023 Jun 15;14(1):3566. doi: 10.1038/s41467-023-39372-x. Nat Commun. 2023. PMID: 37322043 Free PMC article. No abstract available.
[Handicap: definition and classification].
Chabrol B, Halbert C, Milh M, Mancini J. Chabrol B, et al. Among authors: milh m. 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.
162 results