Maria Lucia Cascavilla
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Explore the profile of Maria Lucia Cascavilla including associated specialties, affiliations and a list of published articles.
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51
Citations
402
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Recent Articles
1.
Frontino G, Delvecchio M, Prudente S, Sordi V, Barboni P, Di Giamberardino A, et al.
J Endocrinol Invest
. 2024 Nov;
48(3):507-525.
PMID: 39527371
Wolfram Syndrome (WFS) is a rare, multisystemic, degenerative disease leading to premature death. Clinical and genetic heterogeneity makes WFS diagnosis and management challenging. The Italian Society of Diabetes (SID) and...
2.
La Morgia C, Cascavilla M, De Negri A, Romano M, Canalini F, Rossi S, et al.
Front Neurol
. 2024 Oct;
15:1466275.
PMID: 39364415
Leber's Hereditary Optic Neuropathy (LHON) is a maternally inherited optic nerve disease primarily caused by mutations in mitochondrial DNA (mtDNA). The peak of onset is typically between 15 and 30...
3.
Battista M, Carelli V, Bottazzi L, Bandello F, Cascavilla M, Barboni P
Expert Opin Biol Ther
. 2024 Jun;
24(6):521-528.
PMID: 38939999
Introduction: Leber hereditary optic neuropathy (LHON) is among the most frequent inherited mitochondrial disease, causing a severe visual impairment, mostly in young-adult males. The causative mtDNA variants (the three common...
4.
Villatore A, Frontino G, Cascavilla M, Vignale D, Lazzeroni D, Peretto G
J Clin Med
. 2024 Mar;
13(6).
PMID: 38542026
: Myocarditis is frequently a sporadic disease, but may also occur in the context of genetic disorders which may increase susceptibility to cardiac inflammation. Cardiac involvement in Wolfram syndrome type...
5.
Barboni P, Battista M, Brotto L, Nucci P, Checchin L, Bandello F, et al.
J Neuroophthalmol
. 2024 Feb;
45(1):e40-e42.
PMID: 38381526
No abstract available.
6.
Amore G, Romagnoli M, Carbonelli M, Cascavilla M, De Negri A, Carta A, et al.
Am J Ophthalmol
. 2024 Jan;
262:114-124.
PMID: 38278202
Purpose: Heterozygous mutations in the AFG3L2 gene (encoding a mitochondrial protease indirectly reflecting on OPA1 cleavage) and ACO2 gene (encoding the mitochondrial enzyme aconitase) are associated with isolated forms of...
7.
Aleo S, Del Dotto V, Romagnoli M, Fiorini C, Capirossi G, Peron C, et al.
Cell Rep Med
. 2024 Jan;
5(2):101383.
PMID: 38272025
Idebenone, the only approved treatment for Leber hereditary optic neuropathy (LHON), promotes recovery of visual function in up to 50% of patients, but we can neither predict nor understand the...
8.
Battista M, Coutinho C, Berni A, Borrelli E, Galzignato A, Lari G, et al.
Invest Ophthalmol Vis Sci
. 2024 Jan;
65(1):24.
PMID: 38193759
Purpose: Dominant optic atrophy (DOA) is an inherited condition caused by autosomal dominant mutations involving the OPA-1 gene. The aim of this study was to assess the relationship between macular...
9.
Bianco L, Arrigo A, Antropoli A, Del Fabbro S, Panina-Bordignon P, Peri C, et al.
Invest Ophthalmol Vis Sci
. 2023 Dec;
64(15):13.
PMID: 38088826
Purpose: To determine if circulating antiretinal antibodies (ARAs) differ between patients affected by retinitis pigmentosa (RP) and control participants and to assess whether ARAs are associated with clinical outcomes in...
10.
Fiorini C, Degiorgi A, Cascavilla M, Tropeano C, La Morgia C, Battista M, et al.
J Med Genet
. 2023 Sep;
61(1):93-101.
PMID: 37734847
Background: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder characterised by complex I defect leading to sudden degeneration of retinal ganglion cells. Although typically associated with pathogenic variants in...