Marco Di Duca
Overview
Explore the profile of Marco Di Duca including associated specialties, affiliations and a list of published articles.
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47
Citations
615
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Recent Articles
1.
Cappato S, Divizia M, Menta L, Rosti G, Puliti A, Martinheira Da Silva J, et al.
NPJ Genom Med
. 2025 Feb;
10(1):10.
PMID: 39939609
Nail-Patella syndrome (NPS) is a rare autosomal dominant condition due to haploinsufficiency of LMX1B, caused by loss-of-function variants affecting the coding sequence, or partial/whole deletions of the gene. In here,...
2.
Romano F, Cerminara M, De Marco P, Iacomino M, Di Duca M, Tortora D, et al.
Birth Defects Res
. 2025 Feb;
117(2):e2446.
PMID: 39907171
Objectives: Chiari malformation type 1 (CMI) is defined by the herniation of cerebellar tonsils of 5 mm or more, with possible neurological consequences, including compression of the neural tissue and/or...
3.
Chelleri C, Brolatti N, De Marco P, Ognibene M, Diana M, Madia F, et al.
Am J Med Genet A
. 2024 Jul;
194(12):e63824.
PMID: 39031930
Legius syndrome, commonly referred to as SPRED1-related neurofibromatosis type 1-like syndrome, is a rare autosomal dominant disorder characterized by café-au-lait macules, freckling, lipomas, macrocephaly, and heterogeneous neurodevelopmental manifestations, including a...
4.
Traverso M, Baratto S, Iacomino M, Di Duca M, Panicucci C, Casalini S, et al.
Eur J Hum Genet
. 2024 Jan;
32(3):342-349.
PMID: 38177406
DAG1 encodes for dystroglycan, a key component of the dystrophin-glycoprotein complex (DGC) with a pivotal role in skeletal muscle function and maintenance. Biallelic loss-of-function DAG1 variants cause severe muscular dystrophy...
5.
Dainelli A, Iacomino M, Rossato S, Bugin S, Traverso M, Severino M, et al.
Epilepsia Open
. 2023 Jul;
8(4):1314-1330.
PMID: 37491868
Objective: NPRL3-related epilepsy (NRE) is an emerging condition set within the wide GATOR-1 spectrum with a particularly heterogeneous and elusive phenotypic expression. Here, we delineated the genotype-phenotype spectrum of NRE,...
6.
Ognibene M, Scala M, Iacomino M, Schiavetti I, Madia F, Traverso M, et al.
Cancers (Basel)
. 2023 Mar;
15(6).
PMID: 36980803
Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by mutations in gene, coding for neurofibromin 1. NF1 can be associated with Moyamoya disease (MMD), and this association, typical of...
7.
Tomati V, Costa S, Capurro V, Pesce E, Pastorino C, Lena M, et al.
J Cyst Fibros
. 2022 Dec;
22(3):525-537.
PMID: 36543707
Background: Cystic fibrosis is caused by mutations impairing expression, trafficking, stability and/or activity of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel. The G1244E mutation causes a severe gating...
8.
Grossi A, Morelli F, Di Duca M, Caroli F, Moroni I, Tonduti D, et al.
Front Genet
. 2022 Apr;
13:877443.
PMID: 35386286
[This corrects the article DOI: 10.3389/fgene.2021.744068.].
9.
Grossi A, Morelli F, Di Duca M, Caroli F, Moroni I, Tonduti D, et al.
Front Genet
. 2021 Dec;
12:744068.
PMID: 34950187
Alexander disease is a leukodystrophy caused by heterozygous mutations of gene. Recurrence in siblings from healthy parents provides a confirmation to the transmission of variants through germinal mosaicism. With the...
10.
Romano F, De Marco P, Ognibene M, Di Duca M, Baldassari S, Pavanello M, et al.
Birth Defects Res
. 2021 Jun;
113(15):1161-1165.
PMID: 34156759
Background: Currarino syndrome (CS) is a rare genetic condition characterized by the association of three major clinical signs: anorectal malformation (ARM), sacro-coccygeal bone defects, and presacral mass. Different kinds of...