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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: bruno i. 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
Widening sedation availability.
Barbi E, Bruno I, Ventura A. Barbi E, et al. Among authors: bruno i. J Pediatr. 2005 Mar;146(3):438-9; author reply 439. doi: 10.1016/j.jpeds.2004.09.016. J Pediatr. 2005. PMID: 15756247 No abstract available.
When fingers point to the diagnosis.
Trombetta A, Magnolato A, Bruno I, Rabach I, Murru FM, Faletra F. Trombetta A, et al. Among authors: bruno i. Arch Dis Child. 2020 Nov;105(11):1117. doi: 10.1136/archdischild-2019-317514. Epub 2019 Aug 10. Arch Dis Child. 2020. PMID: 31401559 No abstract available.
A Child With Self-Improving Hypotonia: Look at the Skin!
Conversano E, Agrusti A, Conti R, Magnolato A, Bruno I, Colombi M, Barbi E, Faletra F. Conversano E, et al. Among authors: bruno i. J Pediatr. 2020 Oct;225:269-270. doi: 10.1016/j.jpeds.2020.05.057. Epub 2020 Jun 6. J Pediatr. 2020. PMID: 32511961 No abstract available.
Could the MED13 mutations manifest as a Kabuki-like syndrome?
De Nardi L, Faletra F, D'Adamo AP, Bianco AMR, Athanasakis E, Bruno I, Barbi E. De Nardi L, et al. Among authors: bruno i. Am J Med Genet A. 2021 Feb;185(2):584-590. doi: 10.1002/ajmg.a.61994. Epub 2020 Nov 30. Am J Med Genet A. 2021. PMID: 33258286
223 results