Roberta Onesimo
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Explore the profile of Roberta Onesimo including associated specialties, affiliations and a list of published articles.
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Articles
103
Citations
490
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Recent Articles
1.
Bruselles A, Mancini C, Chiriatti L, Carvetta M, Baroni M, Cappelletti C, et al.
Eur J Hum Genet
. 2025 Feb;
PMID: 40011755
A narrow spectrum of heterozygous variants in RNU4-2, encoding the small nuclear RNA (snRNA) U4, underlies ReNU syndrome, a neurodevelopmental disorder (NDD) characterized by moderate to severe developmental delay (DD),...
2.
Chiriatti L, Priolo M, Onesimo R, Carvetta M, Leoni C, Bruselles A, et al.
Genes (Basel)
. 2025 Feb;
16(2).
PMID: 40004505
Heterozygous variants in the heterogeneous nuclear ribonucleoprotein C gene () have recently been reported to cause intellectual developmental disorder-74 (MRD74), a neurodevelopmental disorder with no recurrent diagnostic handles. Affected individuals...
3.
Sforza E, Cala F, Manfredi C, Lanata A, Guala A, Danesino C, et al.
Eur J Pediatr
. 2024 Dec;
184(1):60.
PMID: 39627468
Genetic syndromes have been studied by extensive research allowing a better definition of their clinical manifestations, natural history, and etiopathogenetic mechanisms. Nevertheless, some relevant, but still unexplored aspects of these...
4.
Seaby E, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, et al.
Brain
. 2024 Oct;
PMID: 39405200
DDX17 is an RNA helicase shown to be involved in critical processes during the early phases of neuronal differentiation. Globally, we compiled a case-series of 11 patients with neurodevelopmental phenotypes...
5.
Onesimo R, Sforza E, Palermo F, Giorgio V, Leoni C, Rigante D, et al.
Genes (Basel)
. 2024 Sep;
15(9).
PMID: 39336700
Feeding difficulties are constantly present in patients with Crisponi/cold-induced sweating syndrome type 1 (CS/CISS1). The aim of our study was to describe their prevalence and evolution from birth to adult...
6.
Giovenale A, Turco E, Mazzoni M, Ferrone I, Torres B, Bernardini L, et al.
Stem Cell Res
. 2024 Sep;
81():103544.
PMID: 39260069
Smith-Magenis syndrome (SMS) is a complex neurodevelopmental disorder with a birth incidence of 1:25,000. SMS is caused by haploinsufficiency of the retinoic acid-induced retinoic acid1 (RAI1) gene, determined by an...
7.
Carpentieri G, Cecchetti S, Bocchinfuso G, Radio F, Leoni C, Onesimo R, et al.
HGG Adv
. 2024 Aug;
5(4):100349.
PMID: 39210597
The vacuolar H-ATPase (V-ATPase) is a functionally conserved multimeric complex localized at the membranes of many organelles where its proton-pumping action is required for proper lumen acidification. The V-ATPase complex...
8.
Pane M, Stanca G, Coratti G, D Amico A, Sansone V, Berti B, et al.
Eur J Pediatr
. 2024 Aug;
183(11):4735-4745.
PMID: 39210071
The aim of this study was to assess the need for tube feeding in a cohort of treated infants with type I SMA and to identify predictive factors. All patients...
9.
Garone G, Innocenti A, Grasso M, Mandarino A, Capuano A, Della Bella G, et al.
Parkinsonism Relat Disord
. 2024 Jul;
126:107057.
PMID: 39067319
Introduction: CTNNB1 gene loss-of-function variants cause Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV, OMIM 615075). Although motor impairment represents a core feature of this condition, the motor phenotype...
10.
Trevisan V, De Corso E, Viscogliosi G, Onesimo R, Cina A, Panfili M, et al.
Orphanet J Rare Dis
. 2024 Jul;
19(1):276.
PMID: 39044220
Background: Lymphatic malformations are vascular developmental anomalies varying from local superficial masses to diffuse infiltrating lesions, resulting in disfigurement. Patients' outcomes range from spontaneous regression to severe sequelae notwithstanding appropriate...