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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Vissers LELM, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, Kwint M, Witmond M, Kersten S, Polla DL, Weijers D, Begtrup A, McWalter K, Ruiz A, Gabau E, Morton JEV, Griffith C, Weiss K, Gamble C, Bartley J, Vernon HJ, Brunet K, Ruivenkamp C, Kant SG, Kruszka P, Larson A, Afenjar A, Billette de Villemeur T, Nugent K; DDD Study; Raymond FL, Venselaar H, Demurger F, Soler-Alfonso C, Li D, Bhoj E, Hayes I, Hamilton NP, Ahmad A, Fisher R, van den Born M, Willems M, Sorlin A, Delanne J, Moutton S, Christophe P, Mau-Them FT, Vitobello A, Goel H, Massingham L, Phornphutkul C, Schwab J, Keren B, Charles P, Vreeburg M, De Simone L, Hoganson G, Iascone M, Milani D, Evenepoel L, Revencu N, Ward DI, Burns K, Krantz I, Raible SE, Murrell JR, Wood K, Cho MT, van Bokhoven H, Muenke M, Kleefstra T, Bodmer R, de Brouwer APM. Vissers LELM, et al. Among authors: de simone l, de brouwer apm, de boer e. Am J Hum Genet. 2020 Jul 2;107(1):164-172. doi: 10.1016/j.ajhg.2020.05.017. Epub 2020 Jun 17. Am J Hum Genet. 2020. PMID: 32553196 Free PMC article.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS. Deng R, et al. Among authors: de simone l. Acta Neuropathol. 2023 Aug;146(2):353-368. doi: 10.1007/s00401-023-02579-9. Epub 2023 Apr 29. Acta Neuropathol. 2023. PMID: 37119330 Free PMC article.
Oral leukokeratosis: A case report.
De Simone L, Pasqua D, Monaco A. De Simone L, et al. Aten Primaria. 2024 Apr 12;56(7):102934. doi: 10.1016/j.aprim.2024.102934. Online ahead of print. Aten Primaria. 2024. PMID: 38614037 Free PMC article. No abstract available.
Intraspecific variability of leaf form and function across habitat types.
Puglielli G, Bricca A, Chelli S, Petruzzellis F, Acosta ATR, Bacaro G, Beccari E, Bernardo L, Bonari G, Bolpagni R, Boscutti F, Calvia G, Campetella G, Cancellieri L, Canullo R, Carbognani M, Carboni M, Carranza ML, Castellani MB, Ciccarelli D, Coppi A, Cutini M, Dalla Vecchia A, Dalle Fratte M, de Francesco MC, De Frenne P, De Sanctis M, de Simone L, Di Cecco V, Fanelli G, Farris E, Ferrara A, Fenu G, Filibeck G, Gasperini C, Gargano D, Kindermann E, La Bella G, Lastrucci L, Lazzaro L, Maccherini S, Marignani M, Mugnai M, Naselli-Flores L, Passalacqua NG, Pavanetto N, Petraglia A, Rota F, Santoianni LA, Schettino A, Selvi F, Stanisci A, Trotta G, Vangansbeke P, Varricchione M, Vuerich M, Wellstein C, Tordoni E. Puglielli G, et al. Among authors: de simone l. Ecol Lett. 2024 Mar;27(3):e14396. doi: 10.1111/ele.14396. Ecol Lett. 2024. PMID: 38456670
170 results