Maria Lucia Valentino
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Explore the profile of Maria Lucia Valentino including associated specialties, affiliations and a list of published articles.
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75
Citations
2531
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Recent Articles
1.
Tropeano C, La Morgia C, Achilli A, Iommarini L, Tioli G, Caporali L, et al.
Int J Mol Sci
. 2025 Feb;
26(3).
PMID: 39940884
We report on a sporadic patient suffering Leigh syndrome characterized by bilateral lesions in the lenticular nuclei and spastic dystonia, intellectual disability, sensorineural deafness, hypertrophic cardiomyopathy, exercise intolerance, and retinitis...
2.
Capasso A, Cicala G, Ricci M, Pane M, DAmico A, Bruno C, et al.
Eur J Pediatr
. 2024 Dec;
184(1):86.
PMID: 39680193
Purpose: The availability of care recommendations has improved survival and delayed the progression of clinical signs in Duchenne muscular dystrophy. The aim of the study was to perform a nationwide...
3.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Nashabat M, Nabavizadeh N, Saracoglu H, Saribas B, Avci S, Borklu E, et al.
Nat Commun
. 2024 Feb;
15(1):1758.
PMID: 38413582
SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children...
4.
Vacchiano V, Palombo F, Ormanbekova D, Fiorini C, Fiorentino A, Caporali L, et al.
Front Genet
. 2023 Dec;
14:1322067.
PMID: 38152653
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a complex genetic architecture, showing monogenic, oligogenic, and polygenic inheritance. In this study, we describe the case of a 71 years-old...
5.
Southwell N, Primiano G, Nadkarni V, Attarwala N, Beattie E, Miller D, et al.
EMBO Mol Med
. 2023 May;
15(7):e16951.
PMID: 37222423
Mitochondrial diseases are a heterogeneous group of monogenic disorders that result from impaired oxidative phosphorylation (OXPHOS). As neuromuscular tissues are highly energy-dependent, mitochondrial diseases often affect skeletal muscle. Although genetic...
6.
Fiorini C, Ormanbekova D, Palombo F, Carbonelli M, Amore G, Romagnoli M, et al.
Brain
. 2023 Mar;
146(9):e67-e70.
PMID: 36913248
No abstract available.
7.
Palombo F, La Morgia C, Fiorini C, Caporali L, Valentino M, Donadio V, et al.
Neurol Genet
. 2022 Aug;
8(5):e200004.
PMID: 35949253
Background And Objectives: To date, approximately 20 heterozygous mainly loss-of-function variants in have been associated with spinocerebellar ataxia (SCA) type 19 and 22, a clinically heterogeneous group of neurodegenerative disorders....
8.
Misic J, Milenkovic D, Al-Behadili A, Xie X, Jiang M, Jiang S, et al.
Nucleic Acids Res
. 2022 Aug;
50(15):8749-8766.
PMID: 35947649
The in vivo role for RNase H1 in mammalian mitochondria has been much debated. Loss of RNase H1 is embryonic lethal and to further study its role in mtDNA expression...
9.
Capristo M, Del Dotto V, Tropeano C, Fiorini C, Caporali L, La Morgia C, et al.
Mol Med
. 2022 Aug;
28(1):90.
PMID: 35922766
Background: Myoclonus, Epilepsy and Ragged-Red-Fibers (MERRF) is a mitochondrial encephalomyopathy due to heteroplasmic mutations in mitochondrial DNA (mtDNA) most frequently affecting the tRNA gene at position m.8344A > G. Defective...
10.
Percetti M, Franco G, Monfrini E, Caporali L, Minardi R, La Morgia C, et al.
Mov Disord
. 2022 Jul;
37(9):1938-1943.
PMID: 35792653
Background: Parkinsonian features have been described in patients harboring variants in nuclear genes encoding for proteins involved in mitochondrial DNA maintenance, such as TWNK. Objectives: The aim was to screen...