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Year Number of Results
2018 5
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2020 5
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2024 25
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Page 1
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, Rodríguez-Sacristán Cascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Epilepsia. 2020 Nov;61(11):2461-2473. doi: 10.1111/epi.16679. Epub 2020 Sep 21. Epilepsia. 2020. PMID: 32954514 Free article.
Targeting a lineage-specific PI3Kɣ-Akt signaling module in acute myeloid leukemia using a heterobifunctional degrader molecule.
Kelly LM, Rutter JC, Lin KH, Ling F, Duchmann M, Latour E, Arang N, Pasquer H, Ho Nhat D, Charles J, Killarney ST, Ang HX, Namor F, Culeux C, Lombard B, Loew D, Swaney DL, Krogan NJ, Brunel L, Carretero É, Verdié P, Amblard M, Fodil S, Huynh T, Sebert M, Adès L, Raffoux E, Fenouille N, Itzykson R, Lobry C, Benajiba L, Forget A, Martin AR, Wood KC, Puissant A. Kelly LM, et al. Nat Cancer. 2024 Jul;5(7):1082-1101. doi: 10.1038/s43018-024-00782-5. Epub 2024 May 30. Nat Cancer. 2024. PMID: 38816660 Free article.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Ruault V, Burger P, Gradels-Hauguel J, Ruiz N; Xtraordinaire; Jamra RA, Afenjar A, Alembik Y, Alessandri JL, Arpin S, Barcia G, Bendová Š, Bruel AL, Charles P, Chatron N, Chopra M, Conrad S, Daire VC, Cospain A, Coubes C, Coursimault J, Delahaye-Duriez A, Doco M, Dufour W, Durand B, Engel C, Faivre L, Ferroul F, Fradin M, Frenkiel H, Fusco C, Garavelli L, Garde A, Gerard B, Germanaud D, Goujon L, Gouronc A, Ginglinger E, Goldenberg A, Hancarova M, Havlovicová M, Heron D, Isidor B, Marçais NJ, Keren B, Koch-Hogrebe M, Kuentz P, Lamure V, Lebre AS, Lecoquierre F, Lehman N, Lesca G, Lyonnet S, Martin D, Mignot C, Neuhann TM, Nicolas G, Nizon M, Petit F, Philippe C, Piton A, Pollazzon M, Prchalová D, Putoux A, Rio M, Rondeau S, Rossi M, Sabbagh Q, Saugier-Veber P, Schmetz A, Steffann J, Thauvin-Robinet C, Toutain A, Them FTM, Trimarchi G, Vincent M, Vlčková M, Wieczorek D, Willems M, Yauy K, Zelinová M, Ziegler A; GENIDA Project; Chaumette B, Sadikovic B, Mandel JL, Geneviève D. Ruault V, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2363. doi: 10.1002/mgg3.2363. Mol Genet Genomic Med. 2024. PMID: 38284452 Free PMC article.
Neurophysiological explorations across the spectrum of psychosis, autism, and depression, during wakefulness and sleep: protocol of a prospective case-control transdiagnostic multimodal study (DEMETER).
Lucarini V, Alouit A, Yeh D, Le Coq J, Savatte R, Charre M, Louveau C, Houamri MB, Penaud S, Gaston-Bellegarde A, Rio S, Drouet L, Elbaz M, Becchio J, Pourchet S, Pruvost-Robieux E, Marchi A, Moyal M, Lefebvre A, Chaumette B, Grice M, Lindberg PG, Dupin L, Piolino P, Lemogne C, Léger D, Gavaret M, Krebs MO, Iftimovici A. Lucarini V, et al. BMC Psychiatry. 2023 Nov 21;23(1):860. doi: 10.1186/s12888-023-05347-x. BMC Psychiatry. 2023. PMID: 37990173 Free PMC article.
Cilia in hereditary cerebral anomalies.
Thomas S, Boutaud L, Reilly ML, Benmerah A. Thomas S, et al. Biol Cell. 2019 Sep;111(9):217-231. doi: 10.1111/boc.201900012. Epub 2019 Jun 17. Biol Cell. 2019. PMID: 31177551 Free article. Review.
Replication Stress Is an Actionable Genetic Vulnerability in Desmoplastic Small Round Cell Tumors.
Kawai-Kawachi A, Lenormand MM, Astier C, Herbel N, Cutrona MB, Ngo C, Garrido M, Eychenne T, Dorvault N, Bordelet L, Song F, Bouyakoub R, Loktev A, Romo-Morales A, Henon C, Colmet-Daage L, Vibert J, Drac M, Brough R, Schwob E, Martella O, Pinna G, Shipley JM, Mittnacht S, Zimmermann A, Gulati A, Mir O, Le Cesne A, Faron M, Honoré C, Lord CJ, Chabanon RM, Postel-Vinay S. Kawai-Kawachi A, et al. Cancer Res. 2025 Jan 2;85(1):154-170. doi: 10.1158/0008-5472.CAN-23-3603. Cancer Res. 2025. PMID: 39412947 Free PMC article.
Human autoantibodies underlying infectious diseases.
Puel A, Bastard P, Bustamante J, Casanova JL. Puel A, et al. J Exp Med. 2022 Apr 4;219(4):e20211387. doi: 10.1084/jem.20211387. Epub 2022 Mar 23. J Exp Med. 2022. PMID: 35319722 Free PMC article.
53 results