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A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNAPro.
Ghirigato E, Terenzi F, Baglivo M, Zanetti N, Baldo F, Murru FM, Bobbo M, Barbi E, Zeviani M, Bruno I, Lamantea E. Ghirigato E, et al. Among authors: murru fm. Neuromuscul Disord. 2023 Dec;33(12):972-977. doi: 10.1016/j.nmd.2023.11.001. Epub 2023 Nov 4. Neuromuscul Disord. 2023. PMID: 38030461
Obliterated cavum septi pellucidi: Clinical significance and role of fetal magnetic resonance.
Fantasia I, Ciardo C, Bracalente G, Filippi E, Murru FM, Spezzacatene A, Bin M, Mendez Quintero O, Montaguti E, Lees C, Papanikolaou K, Pilu G, Prefumo F, Thilaganathan B, Stampalija T. Fantasia I, et al. Among authors: murru fm. Acta Obstet Gynecol Scand. 2023 Jun;102(6):744-750. doi: 10.1111/aogs.14575. Epub 2023 Apr 14. Acta Obstet Gynecol Scand. 2023. PMID: 37059118 Free PMC article.
Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling.
Feresin A, Stampalija T, Cappellani S, Bussani R, Faletra F, Murru F, Ulivi S, Suergiu S, Savarese P, Pedicini A, Policicchio M, Ruggiero R, Bosio B, Savarese G, Ardisia C. Feresin A, et al. Among authors: murru f. Front Genet. 2022 Oct 25;13:982508. doi: 10.3389/fgene.2022.982508. eCollection 2022. Front Genet. 2022. PMID: 36386832 Free PMC article.
Giant non-parasitic mixed splenic cyst in a child.
Cleva M, Vaivoda A, Boscarelli A, Codrich D, Spezzacatene A, Murru FM. Cleva M, et al. Among authors: murru fm. J Paediatr Child Health. 2023 Jan;59(1):175-177. doi: 10.1111/jpc.16220. Epub 2022 Sep 20. J Paediatr Child Health. 2023. PMID: 36124936 No abstract available.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Musante L, Faletra F, Meier K, Tomoum H, Najarzadeh Torbati P, Blair E, North S, Gärtner J, Diegmann S, Beiraghi Toosi M, Ashrafzadeh F, Ghayoor Karimiani E, Murphy D, Murru FM, Zanus C, Magnolato A, La Bianca M, Feresin A, Girotto G, Gasparini P, Costa P, Carrozzi M. Musante L, et al. Among authors: murru fm. Am J Med Genet A. 2022 Sep;188(9):2652-2665. doi: 10.1002/ajmg.a.62852. Epub 2022 Jun 7. Am J Med Genet A. 2022. PMID: 35670379 Free PMC article.
Accuracy and clinical utility of standard postmortem radiological imaging after early second trimester termination of pregnancy.
Fantasia I, Murru F, Bussani R, Zennaro F, Gregori M, D'Ottavio G, Monasta L, Quadrifoglio M, Belcaro C, Bussolaro S, Stampalija T. Fantasia I, et al. Among authors: murru f. Eur J Obstet Gynecol Reprod Biol. 2022 Jun;273:75-80. doi: 10.1016/j.ejogrb.2022.04.023. Epub 2022 Apr 27. Eur J Obstet Gynecol Reprod Biol. 2022. PMID: 35504117 Free article.
Asymptomatic sacroiliitis detected by magnetic resonance enterography in patients with Crohn's disease: prevalence, association with clinical data, and reliability among radiologists in a multicenter study of adult and pediatric population.
Cereser L, Zancan G, Giovannini I, Cicciò C, Tinazzi I, Variola A, Bramuzzo M, Murru FM, Marino M, Tullio A, De Vita S, Girometti R, Zabotti A. Cereser L, et al. Among authors: murru fm. Clin Rheumatol. 2022 Aug;41(8):2499-2511. doi: 10.1007/s10067-022-06143-w. Epub 2022 Apr 7. Clin Rheumatol. 2022. PMID: 35389115
49 results