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Epilepsy as a Novel Phenotype of BPTF-Related Disorders.
Ferretti A, Furlan M, Glinton KE, Fenger CD, Boschann F, Amlie-Wolf L, Zeidler S, Moretti R, Stoltenburg C, Tarquinio DC, Furia F, Parisi P, Rubboli G, Devinsky O, Mignot C, Gripp KW, Møller RS, Yang Y, Stankiewicz P, Gardella E. Ferretti A, et al. Among authors: furlan m. Pediatr Neurol. 2024 Sep;158:17-25. doi: 10.1016/j.pediatrneurol.2024.06.001. Epub 2024 Jun 11. Pediatr Neurol. 2024. PMID: 38936258
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J, Signer R, Torring PM, Engelund MB, Gripp KW, Amlie-Wolf L, Henderson LB, Midro AT, Tarasów E, Stasiewicz-Jarocka B, Moskal-Jasinska D, Vos P, Boschann F, Stoltenburg C, Puk O, Mero IL, Lossius K, Mignot C, Keren B, Acosta Guio JC, Briceño I, Gomez A, Yang Y, Stankiewicz P. Glinton KE, et al. Among authors: furlan m. Am J Med Genet A. 2021 May;185(5):1366-1378. doi: 10.1002/ajmg.a.62102. Epub 2021 Jan 31. Am J Med Genet A. 2021. PMID: 33522091 Free PMC article.
Educational booklet on labor and delivery: validity study.
Gonçalves MTC, Silva ARVD, Furlan MCR, Luchesi BM, Martins TCR. Gonçalves MTC, et al. Among authors: furlan mcr. Rev Bras Enferm. 2024 Dec 13;77(5):e20240138. doi: 10.1590/0034-7167-2024-0138. eCollection 2024. Rev Bras Enferm. 2024. PMID: 39699421 Free PMC article.
Depletion of Mettl3 in cholinergic neurons causes adult-onset neuromuscular degeneration.
Dermentzaki G, Furlan M, Tanaka I, Leonardi T, Rinchetti P, Passos PMS, Bastos A, Ayala YM, Hanna JH, Przedborski S, Bonanomi D, Pelizzola M, Lotti F. Dermentzaki G, et al. Among authors: furlan m. Cell Rep. 2024 Apr 23;43(4):113999. doi: 10.1016/j.celrep.2024.113999. Epub 2024 Mar 30. Cell Rep. 2024. PMID: 38554281 Free PMC article.
462 results