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Page 1
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Nicolas G… See abstract for full author list ➔ Rots D, et al. Among authors: di cara f. Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. Am J Hum Genet. 2023. PMID: 37196654 Free PMC article.
Towards early detection of neurodegenerative diseases: A gut feeling.
Makdissi S, Parsons BD, Di Cara F. Makdissi S, et al. Among authors: di cara f. Front Cell Dev Biol. 2023 Feb 7;11:1087091. doi: 10.3389/fcell.2023.1087091. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36824371 Free PMC article. Review.
Peroxisomal defects in microglial cells induce a disease-associated microglial signature.
Raas Q, Tawbeh A, Tahri-Joutey M, Gondcaille C, Keime C, Kaiser R, Trompier D, Nasser B, Leoni V, Bellanger E, Boussand M, Hamon Y, Benani A, Di Cara F, Truntzer C, Cherkaoui-Malki M, Andreoletti P, Savary S. Raas Q, et al. Among authors: di cara f. Front Mol Neurosci. 2023 Apr 17;16:1170313. doi: 10.3389/fnmol.2023.1170313. eCollection 2023. Front Mol Neurosci. 2023. PMID: 37138705 Free PMC article.
Peroxisome deficiency underlies failures in hepatic immune cell development and antigen presentation in a severe Zellweger disease model.
Parsons BD, Medina-Luna D, Scur M, Pinelli M, Gamage GS, Chilvers RA, Hamon Y, Ahmed IHI, Savary S, Makrigiannis AP, Braverman NE, Rodriguez-Alcazar JF, Latz E, Karakach TK, Di Cara F. Parsons BD, et al. Among authors: di cara f. Cell Rep. 2024 Feb 27;43(2):113744. doi: 10.1016/j.celrep.2024.113744. Epub 2024 Feb 6. Cell Rep. 2024. PMID: 38329874 Free article.
Immune response of BV-2 microglial cells is impacted by peroxisomal beta-oxidation.
Tawbeh A, Raas Q, Tahri-Joutey M, Keime C, Kaiser R, Trompier D, Nasser B, Bellanger E, Dessard M, Hamon Y, Benani A, Di Cara F, Cunha Alves T, Berger J, Weinhofer I, Mandard S, Cherkaoui-Malki M, Andreoletti P, Gondcaille C, Savary S. Tawbeh A, et al. Among authors: di cara f. Front Mol Neurosci. 2023 Dec 18;16:1299314. doi: 10.3389/fnmol.2023.1299314. eCollection 2023. Front Mol Neurosci. 2023. PMID: 38164407 Free PMC article.
Peroxisomes : novel findings and future directions.
Pedrosa AG, Reglinski K, Lismont C, Kors S, Costello J, Rodrigues TA, Marques M, Linka N, Argyriou C, Weinhofer I, Kocherlakota S, Riccio V, Ferreira V, Di Cara F, Ferreira AR, Francisco T, Azevedo JE, Ribeiro D. Pedrosa AG, et al. Among authors: di cara f. Histochem Cell Biol. 2023 May;159(5):379-387. doi: 10.1007/s00418-023-02201-9. Epub 2023 May 10. Histochem Cell Biol. 2023. PMID: 37160800 Free PMC article. No abstract available.
38 results