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Page 1
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Among authors: lefranc j. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360
Targeting the aryl hydrocarbon receptor (AhR) with BAY 2416964: a selective small molecule inhibitor for cancer immunotherapy.
Kober C, Roewe J, Schmees N, Roese L, Roehn U, Bader B, Stoeckigt D, Prinz F, Gorjánácz M, Roider HG, Olesch C, Leder G, Irlbacher H, Lesche R, Lefranc J, Oezcan-Wahlbrink M, Batra AS, Elmadany N, Carretero R, Sahm K, Oezen I, Cichon F, Baumann D, Sadik A, Opitz CA, Weinmann H, Hartung IV, Kreft B, Offringa R, Platten M, Gutcher I. Kober C, et al. Among authors: lefranc j. J Immunother Cancer. 2023 Nov;11(11):e007495. doi: 10.1136/jitc-2023-007495. J Immunother Cancer. 2023. PMID: 37963637 Free PMC article.
Back in Person: Frontiers in Medicinal Chemistry 2023.
Gehringer M, Pape F, Méndez M, Barbie P, Unzue Lopez A, Lefranc J, Klingler FM, Hessler G, Langer T, Diamanti E, Schiedel M. Gehringer M, et al. Among authors: lefranc j. ChemMedChem. 2023 Oct 4;18(19):e202300344. doi: 10.1002/cmdc.202300344. Epub 2023 Jul 24. ChemMedChem. 2023. PMID: 37485831
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, Pichard S, Brassier A, Schiff M, Feillet F, Rollier P, Mention K, Dobbelaere D, Fouilhoux A, Espil-Taris C, Eyer D, Huet F, Walther-Louvier U, Barth M, Chevret L, Kuster A, Lefranc J, Neveu J, Pitelet G, Ropars J, Rivier F, Roubertie A, Touati G, Vanhulle C, Tardieu E, Caillaud C, Froissart R, Champeaux M, Labarthe F, Chabrol B. Tardieu M, et al. Among authors: lefranc j. Eur J Neurol. 2023 Sep;30(9):2828-2837. doi: 10.1111/ene.15894. Epub 2023 Jun 10. Eur J Neurol. 2023. PMID: 37235686 Free article.
Frontiers in Medicinal Chemistry 2022 Goes Virtual.
Diamanti E, Méndez M, Ross T, Kuttruff CA, Lefranc J, Klingler FM, von Nussbaum F, Jung M, Gehringer M. Diamanti E, et al. Among authors: lefranc j. ChemMedChem. 2022 Nov 4;17(21):e202200419. doi: 10.1002/cmdc.202200419. Epub 2022 Oct 5. ChemMedChem. 2022. PMID: 36198574
MECP2 Dysautonomia Phenotypes in Boys.
Courgeon L, Uguen K, Lefranc J, Lesca G, Ropars J. Courgeon L, et al. Among authors: lefranc j. Pediatr Neurol. 2022 Sep;134:31-36. doi: 10.1016/j.pediatrneurol.2022.06.001. Epub 2022 Jun 9. Pediatr Neurol. 2022. PMID: 35809380
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Maillard PY, Baer S, Schaefer É, Desnous B, Villeneuve N, Lépine A, Fabre A, Lacoste C, El Chehadeh S, Piton A, Porter LF, Perriard C, Wardé MA, Spitz MA, Laugel V, Lesca G, Putoux A, Ville D, Mignot C, Héron D, Nabbout R, Barcia G, Rio M, Roubertie A, Meyer P, Paquis-Flucklinger V, Patat O, Lefranc J, Gerard M; Epigen Consortium; de Bellescize J, Villard L, De Saint Martin A, Milh M. Maillard PY, et al. Among authors: lefranc j. Epilepsia. 2022 Oct;63(10):2519-2533. doi: 10.1111/epi.17336. Epub 2022 Aug 13. Epilepsia. 2022. PMID: 35718920 Free PMC article. Review.
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP; European Pompe Consortium project group on classic infantile Pompe disease. Ditters IAM, et al. Lancet Child Adolesc Health. 2022 Jan;6(1):28-37. doi: 10.1016/S2352-4642(21)00308-4. Epub 2021 Nov 22. Lancet Child Adolesc Health. 2022. PMID: 34822769
Whole-body MR imaging in suspected physical child abuse: comparison with skeletal survey and bone scintigraphy findings from the PEDIMA prospective multicentre study.
Proisy M, Vivier PH, Morel B, Bruneau B, Sembely-Taveau C, Vacheresse S, Devillers A, Lecloirec J, Bodet-Milin C, Dubois M, Hamonic S, Bajeux E, Ganivet A, Adamsbaum C, Treguier C; PEDIMA study research group. Proisy M, et al. Eur Radiol. 2021 Nov;31(11):8069-8080. doi: 10.1007/s00330-021-07896-9. Epub 2021 Apr 29. Eur Radiol. 2021. PMID: 33912993
167 results