Bacci G - Search Results

1

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

Rubegni A, Pisano T, Bacci G, Tessa A, Battini R, Procopio E, Giglio S, Pasquariello R, Santorelli FM, Guerrini R, Nesti C. Rubegni A, et al. Among authors: bacci g. Eur J Paediatr Neurol. 2017 Jul;21(4):671-677. doi: 10.1016/j.ejpn.2017.04.004. Epub 2017 Apr 15. Eur J Paediatr Neurol. 2017. PMID: 28442211

2

Case report of an atypical early onset X-linked retinoschisis in monozygotic twins.

Murro V, Caputo R, Bacci GM, Sodi A, Mucciolo DP, Bargiacchi S, Giglio SR, Virgili G, Rizzo S. Murro V, et al. Among authors: bacci gm. BMC Ophthalmol. 2017 Feb 24;17(1):19. doi: 10.1186/s12886-017-0406-6. BMC Ophthalmol. 2017. PMID: 28235399 Free PMC article.

3

Clinical and molecular studies in two new cases of ARSACS.

Ricca I, Morani F, Bacci GM, Nesti C, Caputo R, Tessa A, Santorelli FM. Ricca I, et al. Neurogenetics. 2019 Mar;20(1):45-49. doi: 10.1007/s10048-019-00564-7. Epub 2019 Jan 24. Neurogenetics. 2019. PMID: 30680480

4

Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos.

Bacci GM, Bargiacchi S, Fortunato P, Pisaneschi E, Peluso F, Marziali E, Magli A, Giglio SR, Caputo R. Bacci GM, et al. Ophthalmic Genet. 2020 Feb;41(1):49-56. doi: 10.1080/13816810.2020.1731835. Epub 2020 Mar 2. Ophthalmic Genet. 2020. PMID: 32118495

5

Docosahexaenoic acid in ARSACS: observations in two patients.

Ricca I, Tessa A, Trovato R, Bacci GM, Santorelli FM. Ricca I, et al. BMC Neurol. 2020 May 28;20(1):215. doi: 10.1186/s12883-020-01803-3. BMC Neurol. 2020. PMID: 32466761 Free PMC article.

6

Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases.

Bacci GM, Polizzi S, Mari F, Conti V, Caputo R, Guerrini R. Bacci GM, et al. J Neuroophthalmol. 2021 Sep 1;41(3):e363-e365. doi: 10.1097/WNO.0000000000001099. J Neuroophthalmol. 2021. PMID: 33110010

7

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.

Gasparini S, Balestrini S, Saccaro LF, Bacci G, Panichella G, Montomoli M, Cantalupo G, Bigoni S, Mancano G, Pellacani S, Leuzzi V, Volpi N, Mari F, Melani F, Cavallin M, Pisano T, Porcedda G, Vaglio A, Mei D, Barba C, Parrini E, Guerrini R. Gasparini S, et al. Among authors: bacci g. Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32099. doi: 10.1002/ajmg.c.32099. Epub 2024 Jul 17. Am J Med Genet C Semin Med Genet. 2024. PMID: 39016117

8

Visual assessment in Down Syndrome: The relevance of early visual functions.

Purpura G, Bacci GM, Bargagna S, Cioni G, Caputo R, Tinelli F. Purpura G, et al. Among authors: bacci gm. Early Hum Dev. 2019 Apr;131:21-28. doi: 10.1016/j.earlhumdev.2019.01.020. Epub 2019 Feb 26. Early Hum Dev. 2019. PMID: 30818135

9

Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases.

Marziali E, Landini S, Fiorentini E, Rocca C, Tiberi L, Artuso R, Zaroili L, Dirupo E, Fortunato P, Bargiacchi S, Caputo R, Bacci GM. Marziali E, et al. Among authors: bacci gm. Ophthalmic Genet. 2024 Aug;45(4):390-394. doi: 10.1080/13816810.2024.2337879. Epub 2024 Apr 8. Ophthalmic Genet. 2024. PMID: 38590032

10

Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?

Rocca C, Tiberi L, Bargiacchi S, Palazzo V, Landini S, Marziali E, Caputo R, Tinelli F, Marchi V, Benedetto A, Pagliazzi A, Bacci GM. Rocca C, et al. Int J Mol Sci. 2022 Jul 15;23(14):7825. doi: 10.3390/ijms23147825. Int J Mol Sci. 2022. PMID: 35887175 Free PMC article.

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