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Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.
Thompson K, Bianchi L, Rastelli F, Piron-Prunier F, Ayciriex S, Besmond C, Hubert L, Barth M, Barbosa IA, Deshpande C, Chitre M, Mehta SG, Wever EJM, Marcorelles P, Donkervoort S, Saade D, Bönnemann CG, Chao KR, Cai C, Iannaccone ST, Dean AF, McFarland R, Vaz FM, Delahodde A, Taylor RW, Rötig A. Thompson K, et al. Among authors: bianchi l. HGG Adv. 2022 Mar 4;3(2):100097. doi: 10.1016/j.xhgg.2022.100097. eCollection 2022 Apr 14. HGG Adv. 2022. PMID: 35321494 Free PMC article.
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.
Sánchez-Caballero L, Ruzzenente B, Bianchi L, Assouline Z, Barcia G, Metodiev MD, Rio M, Funalot B, van den Brand MA, Guerrero-Castillo S, Molenaar JP, Koolen D, Brandt U, Rodenburg RJ, Nijtmans LG, Rötig A. Sánchez-Caballero L, et al. Among authors: bianchi l. Am J Hum Genet. 2016 Jul 7;99(1):208-16. doi: 10.1016/j.ajhg.2016.05.022. Epub 2016 Jun 30. Am J Hum Genet. 2016. PMID: 27374773 Free PMC article.
A systematic review and meta-analysis to evaluate the diagnostic accuracy of PSMA PET/CT in the initial staging of prostate cancer.
Mari A, Cadenar A, Giudici S, Cianchi G, Albisinni S, Autorino R, Di Maida F, Gandaglia G, Mir MC, Valerio M, Marra G, Zattoni F, Bianchi L, Lombardo R, Shariat SF, Roupret M, Bauckneht M, Vaggelli L, De Nunzio C, Minervini A. Mari A, et al. Among authors: bianchi l. Prostate Cancer Prostatic Dis. 2024 May 31. doi: 10.1038/s41391-024-00850-y. Online ahead of print. Prostate Cancer Prostatic Dis. 2024. PMID: 38822051 Review.
Italian National Registry of Alopecia Areata: an epidemiological study of 699 Italian patients.
Piraccini BM, Rapparini L, Quadrelli F, Alessandrini A, Bruni F, Cedirian S, Pampaloni F, Marcelli E, Bortolani B, Giampieri E, Gallo G, Torrelli F, Sciamarrelli N, Quaglino P, Tomasini C, Barruscotti S, Ambrogio F, Foti C, Picciallo M, Caro G, Rossi A, Pellacani G, Ala L, Acri MC, Diluvio L, Matteini E, Bianchi L, Argenziano G, Babino G, Fulgione E, Gnesotto L, Sechi A, Naldi L, Tassone F, Peris K, Caldarola G, Caposiena Caro RD, Bazzacco G, Zalaudek I, Vastarella M, Cantelli M, Patrì A, Dall'oglio F, Lacarrubba F, Micali G, Fraghì A, Boccaletti V, Marzano AV, Barbareschi M, Silvio M, Vagnozzi E, Fargnoli MC, Caponio C, Atzori L, Sanna S, Anedda J, Feliciani C, DE Felici Del Giudice MB, Scandagli I, Prignano F, Rongioletti F, Podo Brunetti A, Bigotto GD, Offidani AM, Simonetti O, Lembo S, Raimondo A, Balestri R, Ioris T, Gisondi P, Bellinato F, Trovato E, Cinotti E, Papini M, Cicoletti M, Corazza M, Starace M. Piraccini BM, et al. Among authors: bianchi l. Ital J Dermatol Venerol. 2024 Jun;159(3):336-343. doi: 10.23736/S2784-8671.24.07934-9. Ital J Dermatol Venerol. 2024. PMID: 38808459
Immunohistochemistry analysis of PSMA expression at prostatic biopsy in high-risk prostate cancer: potential implications for PSMA-PET patient selection.
Droghetti M, Bianchi L, Presutti M, Vetrone L, Farolfi A, Mei R, Giunchi F, Degiovanni A, Mottaran A, Piazza P, Cangemi D, Castellucci P, D'Errico A, Schiavina R, Brunocilla E, Fanti S. Droghetti M, et al. Among authors: bianchi l. Front Oncol. 2024 May 14;14:1324631. doi: 10.3389/fonc.2024.1324631. eCollection 2024. Front Oncol. 2024. PMID: 38807770 Free PMC article.
1,834 results