Alessandra Ferlini
Overview
Explore the profile of Alessandra Ferlini including associated specialties, affiliations and a list of published articles.
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Articles
193
Citations
4506
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Recent Articles
1.
Selvatici R, Guida V, Maffei M, Irrera M, Margutti A, Bisceglia P, et al.
Genes (Basel)
. 2025 Jan;
16(1.
PMID: 39858575
Background/objectives: This study highlighted the efficacy and rapid identification of all types of mutations in the α- and β-globin genes, including silent variants, using the Devyser Thalassemia NGS kit. Furthermore,...
2.
Caputo L, Stamenkovic C, Tierney M, Falzarano M, Bassel-Duby R, Ferlini A, et al.
bioRxiv
. 2024 Dec;
PMID: 39713478
Generation of induced pluripotent cells (hiPSCs)-derived skeletal muscle progenitor cells (SMPCs) holds great promise for regenerative medicine for skeletal muscle wasting diseases, as for example Duchenne Muscular Dystrophy (DMD). Multiple...
3.
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...
4.
Benati D, Cattin E, Corradi F, Ferrari T, Pedrazzoli E, Patrizi C, et al.
Biomolecules
. 2024 Nov;
14(11).
PMID: 39595588
Collagen VI is an essential component of the extracellular matrix (ECM) composed by α1, α2 and α3 chains and encoded by , and genes. Dominant negative pathogenic variants in genes...
5.
Colucci F, Dardis A, Pavan E, Scarpa M, Gozzi A, Antenucci P, et al.
Mov Disord Clin Pract
. 2024 Nov;
12(2):231-235.
PMID: 39512127
No abstract available.
6.
Gorgoglione D, Sabbatini D, Riguzzi P, Capece G, Pane M, Servidei S, et al.
Brain
. 2024 Nov;
PMID: 39499670
Background: Becker muscular dystrophy (BMD) is an X-linked neuromuscular disease due to mutations in the DMD gene, leading to a deficient and less functional dystrophin mainly in skeletal and cardiac...
7.
Saez-Atienzar S, Souza C, Chia R, Beal S, Lorenzini I, Huang R, et al.
Cell Genom
. 2024 Oct;
4(11):100679.
PMID: 39437787
Repeat expansions in the C9orf72 gene are the most common genetic cause of (ALS) and frontotemporal dementia (FTD). Like other genetic forms of neurodegeneration, pinpointing the precise mechanism(s) by which...
8.
Steyaert W, Sagath L, Demidov G, Yepez V, Esteve-Codina A, Gagneur J, et al.
medRxiv
. 2024 May;
PMID: 38746462
Solve-RD is a pan-European rare disease (RD) research program that aims to identify disease-causing genetic variants in previously undiagnosed RD families. We utilised 10-fold coverage HiFi long-read sequencing (LRS) for...
9.
Martin S, Angolini E, Audi J, Bertini E, Bruno L, Coulter J, et al.
BMJ Open
. 2024 Apr;
14(4):e081835.
PMID: 38643010
Introduction: Rare diseases (RDs) collectively impact over 30 million people in Europe. Most individual conditions have a low prevalence which has resulted in a lack of research and expertise in...
10.
Minten T, Gold N, Bick S, Adelson S, Gehlenborg N, Amendola L, et al.
medRxiv
. 2024 Apr;
PMID: 38585998
Genomic sequencing is poised to expand newborn screening for treatable childhood-onset disorders. Over 30 international research studies and companies are exploring its use, collectively aiming to screen more than 500,000...