Diego Martinelli
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Explore the profile of Diego Martinelli including associated specialties, affiliations and a list of published articles.
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136
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2948
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Recent Articles
11.
Manzoni E, Carli S, Gaignard P, Schlieben L, Hirano M, Ronchi D, et al.
Brain Commun
. 2024 May;
6(3):fcae160.
PMID: 38756539
Autosomal recessive pathogenetic variants in the gene cause deficiency of deoxyguanosine kinase activity and mitochondrial deoxynucleotides pool imbalance, consequently, leading to quantitative and/or qualitative impairment of mitochondrial DNA synthesis. Typically,...
12.
Cocciadiferro D, Mazza T, Vecchio D, Biagini T, Petrizzelli F, Agolini E, et al.
Front Genet
. 2024 Jan;
14:1307934.
PMID: 38239854
Desmosterolosis is a rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, severe developmental delay, progressive epileptic encephalopathy, and elevated levels of desmosterol caused by biallelic mutations...
13.
Siri B, DAlessandro A, Maiorana A, Porzio O, Rava L, Dionisi-Vici C, et al.
Eur J Endocrinol
. 2023 Oct;
189(5):485-494.
PMID: 37815532
Objective: Single Large Scale Mitochondrial DNA Deletions (SLSMDs), Pearson Syndrome (PS) and Kearns-Sayre Syndrome (KSS), are systemic diseases with multiple endocrine abnormalities. The adrenocortical function has not been systematically investigated...
14.
Greco B, Caviglia S, Martinelli D, Grimaldi Capitello T, Liccardo D, De Nictolis F, et al.
J Inherit Metab Dis
. 2023 Jul;
46(5):906-915.
PMID: 37395264
Organic acidurias (OAs), urea-cycle disorders (UCDs), and maple syrup urine disease (MSUD) belong to the category of intoxication-type inborn errors of metabolism (IT-IEM). Liver transplantation (LTx) is increasingly utilized in...
15.
Lucignani G, Vattermoli L, Rossi-Espagnet M, Guarnera A, Napolitano A, Figa-Talamanca L, et al.
Children (Basel)
. 2023 Jun;
10(6).
PMID: 37371303
Molybdenum cofactor deficiency (MoCD) is a rare and severe autosomal recessive in-born error of metabolism caused by the mutation in MOCS1, MOCS2, MOCS3 or GEPH genes, with an incidence ranging...
16.
Manoli I, Gebremariam A, McCoy S, Pass A, Gagne J, Hall C, et al.
J Inherit Metab Dis
. 2023 May;
46(4):554-572.
PMID: 37243446
Methylmalonic Acidemia (MMA) is a heterogenous group of inborn errors of metabolism caused by a defect in the methylmalonyl-CoA mutase (MMUT) enzyme or the synthesis and transport of its cofactor,...
17.
Martinelli D, Catesini G, Greco B, Guarnera A, Parrillo C, Maines E, et al.
J Inherit Metab Dis
. 2023 Mar;
46(3):450-465.
PMID: 36861405
Liver and liver/kidney transplantation are increasingly used in methylmalonic aciduria, but little is known on their impact on CNS. The effect of transplantation on neurological outcome was prospectively assessed in...
18.
Kozich V, Schwahn B, Sokolova J, Krizkova M, Ditroi T, Krijt J, et al.
Redox Biol
. 2022 Oct;
58:102517.
PMID: 36306676
Regulation of HS homeostasis in humans is poorly understood. Therefore, we assessed the importance of individual enzymes in synthesis and catabolism of HS by studying patients with respective genetic defects....
19.
Kaiyrzhanov R, Mohammed S, Maroofian R, Husain R, Catania A, Torraco A, et al.
Am J Hum Genet
. 2022 Sep;
109(9):1692-1712.
PMID: 36055214
Leucine zipper-EF-hand containing transmembrane protein 1 (LETM1) encodes an inner mitochondrial membrane protein with an osmoregulatory function controlling mitochondrial volume and ion homeostasis. The putative association of LETM1 with a...
20.
Rivalta B, Torraco A, Martinelli D, Luciani M, Carrozzo R, Finocchi A
Pediatr Allergy Immunol
. 2022 May;
33(5):e13782.
PMID: 35616898
No abstract available.