Maria Antonietta Maioli
Overview
Explore the profile of Maria Antonietta Maioli including associated specialties, affiliations and a list of published articles.
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Articles
22
Citations
178
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Recent Articles
1.
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...
2.
Strafella C, Megalizzi D, Trastulli G, Proietti Piorgo E, Colantoni L, Tasca G, et al.
Clin Epigenetics
. 2024 Oct;
16(1):148.
PMID: 39438900
Background: Facioscapulohumeral dystrophy (FSHD) is a myopathy characterized by the loss of repressive epigenetic features affecting the D4Z4 locus (4q35). The assessment of DNA methylation at two regions (DUX4-PAS and...
3.
Govoni A, Ricci G, Bonanno S, Bello L, Magri F, Meneri M, et al.
Muscle Nerve
. 2024 Aug;
70(4):816-823.
PMID: 39096012
Introduction/aims: Fatigue (subjective perception) and fatigability (objective motor performance worsening) are relevant aspects of disability in individuals with spinal muscular atrophy (SMA). The effect of nusinersen on fatigability in SMA...
4.
Maccabeo A, Salustro E, Sanna M, Garau P, Maioli M, Coa R, et al.
J Clin Neuromuscul Dis
. 2024 May;
25(4):199-200.
PMID: 38771230
No abstract available.
5.
Vicino A, Bello L, Bonanno S, Govoni A, Cerri F, Ferraro M, et al.
Neuromuscul Disord
. 2023 Nov;
33(12):911-916.
PMID: 37945485
Due to poor data in literature, we aimed to investigate the respiratory function in a large cohort of naïve Italian adult (≥18 years) SMA patients in a multi-centric cross-sectional study....
6.
Uda M, Rivano M, Aledda L, Maioli M, Lombardo F
Eur J Hosp Pharm
. 2023 Oct;
PMID: 37898509
Objectives: The aim of the budget impact analysis (BIA) was to determine the economic impact of introducing risdiplam in the treatment of type 3 spinal muscular atrophy (SMA) patients in...
7.
Ricci M, Cicala G, Capasso A, Coratti G, Fiori S, Cutrona C, et al.
Ann Neurol
. 2023 Sep;
94(6):1126-1135.
PMID: 37695206
Objective: The aim of this study was to provide an overview of the clinical phenotypes associated with 4 SMN2 copies. Methods: Clinical phenotypes were analyzed in all the patients with...
8.
Dosi C, Rubegni A, Baldacci J, Galatolo D, Doccini S, Astrea G, et al.
Genes (Basel)
. 2023 Feb;
14(2).
PMID: 36833224
Thanks to advances in gene sequencing, -related myopathy (RYR1-RM) is now known to manifest itself in vastly heterogeneous forms, whose clinical interpretation is, therefore, highly challenging. We set out to...
9.
Marinella G, Astrea G, Buchignani B, Cassandrini D, Doccini S, Filosto M, et al.
Int J Mol Sci
. 2022 Dec;
23(23).
PMID: 36498898
Objective: To define the prevalence of variants in collagen VI genes through a next-generation sequencing (NGS) approach in undiagnosed patients with suspected neuromuscular disease and to propose a diagnostic flowchart...
10.
Coratti G, Ricci M, Capasso A, DAmico A, Sansone V, Bruno C, et al.
Neurology
. 2022 Dec;
100(11):522-528.
PMID: 36460469
Objective: Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment...