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» Authors » Alessia Pugliese

Alessia Pugliese

Explore the profile of Alessia Pugliese including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 15
Citations 85
Followers 0
Related Specialties
Neurology
General Medicine
Pediatrics
Top 10 Co-Authors
Antonio Toscano
Carmelo Rodolico
Olimpia Musumeci
Massimiliano Filosto
Guido Primiano
Gabriele Siciliano
Giulia Nicocia
Hanns Lochmuller
Giulia Ricci
Cristina Sancricca
Published In
J Neurol
Acta Myol
J Clin Neuromuscul Dis
J Neuromuscul Dis
Pediatr Neurol
Affiliations
Soon will be listed here.
Recent Articles
1.
Focal myositis: a literature review of clinical and immunopathological aspects
Pugliese A, Migliorato A, Barbaccia A, Biasini F, Musumeci O, Toscano A, et al.
Acta Myol . 2024 Oct; 43(3):108-113. PMID: 39468967
Objectives: Focal myositis (FM) is a rare and restricted skeletal muscle inflammation, presenting as a solid mass with a typical lower leg localization and benign prognosis. In most cases the...
2.
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients
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.
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network
Bortolani S, Savarese M, Vattemi G, Bonanno S, Falzone Y, Pugliese A, et al.
Neurology . 2024 Aug; 103(4):e209697. PMID: 39102614
Background And Objectives: The diagnostic process for myofibrillar myopathies (MFM) and distal myopathies (DM) is particularly complex because of the large number of causative genes, the existence of still molecularly...
4.
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases
Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, et al.
Pediatr Neurol . 2024 Jun; 157:5-13. PMID: 38833907
Background: Congenital myasthenic syndromes (CMS) are a group of inherited neuromuscular junction (NMJ) disorders arising from gene variants encoding diverse NMJ proteins. Recently, the VAMP1 gene, responsible for encoding the...
5.
Immune checkpoint inhibitors and neurotoxicity: a focus on diagnosis and management for a multidisciplinary approach
Speranza D, Santarpia M, Luppino F, Omero F, Maiorana E, Cavaleri M, et al.
Expert Opin Drug Saf . 2024 May; 23(11):1405-1418. PMID: 38819976
Introduction: Although immune checkpoint inhibitors (ICIs) have revolutionized cancer treatment, the consequential over activation of the immune system is often complicated by adverse events that can affect several organs and...
6.
Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series
Pugliese A, Marina A, de Paula Estephan E, Zanoteli E, Roos A, Schara-Schmidt U, et al.
J Neurol . 2023 Nov; 271(3):1331-1341. PMID: 37923938
The RASopathies are a group of genetic rare diseases caused by mutations affecting genes involved in the RAS/MAPK (RAS-mitogen activated protein kinase) pathway. Among them, PTPN11 pathogenic variants are responsible...
7.
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
Fortunato F, Bianchi F, Ricci G, Torri F, Gualandi F, Neri M, et al.
Orphanet J Rare Dis . 2023 Jul; 18(1):196. PMID: 37480080
Background: The development of e-health technologies for teleconsultation and exchange of knowledge is one of the core purposes of European Reference Networks (ERNs), including the ERN EURO-NMD for rare neuromuscular...
8.
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models
Pugliese A, Holland S, Rodolico C, Lochmuller H, Spendiff S
J Neuromuscul Dis . 2023 May; 10(5):731-759. PMID: 37212067
Presynaptic congenital myasthenic syndromes (CMS) are a group of genetic disorders affecting the presynaptic side of the neuromuscular junctions (NMJ). They can result from a dysfunction in acetylcholine (ACh) synthesis...
9.
A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy
Musumeci O, Pugliese A, Oteri R, Volta S, Ciranni A, Moggio M, et al.
Neuromuscul Disord . 2022 May; 32(7):582-589. PMID: 35641353
Muscle Glycogenosis type 0 (GSD0B) is an extremely rare disorder first recognized in 2007 in three siblings with childhood onset and severe cardiomyopathy. Since then, a few cases with severe...
10.
Molecular Genetics Overview of Primary Mitochondrial Myopathies
Arena I, Pugliese A, Volta S, Toscano A, Musumeci O
J Clin Med . 2022 Feb; 11(3). PMID: 35160083
Mitochondrial disorders are the most common inherited conditions, characterized by defects in oxidative phosphorylation and caused by mutations in nuclear or mitochondrial genes. Due to its high energy request, skeletal...