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Andrea La Barbera

Explore the profile of Andrea La Barbera including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 12
Citations 32
Followers 0
Related Specialties
Neurology
Genetics
General Medicine
Top 10 Co-Authors
Clarissa Ponti
Paola Mandich
Angelo Schenone
Emilia Bellone
Alessandro Geroldi
Francesca Sanguineri
Fabio Gotta
Andrea Gaudio
Paola Origone
Alessia Mammi
Published In
J Peripher Nerv Syst
Front Immunol
Genes (Basel)
Microbiol Spectr
J Med Genet
Affiliations
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Recent Articles
1.
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies
Geroldi A, La Barbera A, Mammi A, Origone P, Gaudio A, Ponti C, et al.
J Peripher Nerv Syst . 2024 Sep; 29(4):472-486. PMID: 39251209
Background And Aims: Since 2016, biallelic mutations in the membrane metalloendopeptidase (MME) gene have been associated with late-onset recessive CMT2 (CMT2T). More recently, heterozygous mutations have also been identified in...
2.
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family
Mammi A, Geroldi A, Patrone S, Gotta F, Origone P, Gaudio A, et al.
J Peripher Nerv Syst . 2024 Jun; 29(2):279-285. PMID: 38874107
Aim: Biallelic mutations in the PTRH2 gene have been associated with infantile multisystem neurological, endocrine, and pancreatic disease (IMNEPD), a rare autosomal recessive disorder of variable expressivity characterized by global...
3.
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation
Geroldi A, Mammi A, Gaudio A, Patrone S, La Barbera A, Origone P, et al.
J Med Genet . 2024 Jun; 61(9):847-852. PMID: 38871447
Background: The application of massive parallel sequencing technologies in the molecular analysis of Charcot-Marie-Tooth (CMT) has enabled the rapid and cost-effective identification of numerous potentially significant variants for diagnostic purposes....
4.
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement
Geroldi A, Ponti C, Mammi A, Patrone S, Gotta F, Trevisan L, et al.
Pediatr Neurol . 2024 Mar; 154:4-8. PMID: 38428336
Background: Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited peripheral neuropathies. Although the typical disease onset is reported in the second decade, earlier onsets are not uncommon. To date,...
5.
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers
Geroldi A, Tozza S, Fiorillo C, Nolano M, Fossa P, Vitale F, et al.
J Peripher Nerv Syst . 2023 Oct; 28(4):620-628. PMID: 37897416
Background And Aims: POLR3B gene encodes a subunit of RNA polymerase III (Pol III). Biallelic mutations in POLR3B are associated with leukodystrophies, but recently de novo heterozygous mutations have been...
6.
Novel Sources of Biodiversity and Biomolecules from Bacteria Isolated from a High Middle Ages Soil Sample in Palermo (Sicily, Italy)
Vassallo A, Modi A, Quagliariello A, Bacci G, Faddetta T, Gallo M, et al.
Microbiol Spectr . 2023 Apr; 11(3):e0437422. PMID: 37071008
The urban plan of Palermo (Sicily, Italy) has evolved throughout Punic, Roman, Byzantine, Arab, and Norman ages until it stabilized within the borders that correspond to the current historic center....
7.
Novel Germline Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia
Provenzano A, Chetta M, De Filpo G, Cantini G, La Barbera A, Nesi G, et al.
Medicina (Kaunas) . 2022 Aug; 58(8). PMID: 36013579
Background: Pheochromocytoma (Pheo) and paraganglioma (PGL) are rare tumors, mostly resulting from pathogenic variants of predisposing genes, with a genetic contribution that now stands at around 70%. Germline variants account...
8.
Non-Invasive Detection of a De Novo Frameshift Variant of in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females
Provenzano A, La Barbera A, Lai F, Perra A, Farina A, Cariati E, et al.
J Clin Med . 2022 Jul; 11(14). PMID: 35887945
Background: We report on a 20-week-old female fetus with a diaphragmatic hernia and other malformations, all of which appeared after the first-trimester ultrasound. Methods And Results: Whole trio exome sequencing...
9.
A Novel Splicing Variant of in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions
Bruni V, Spoleti C, La Barbera A, Dattilo V, Colao E, Votino C, et al.
Genes (Basel) . 2021 Sep; 12(9). PMID: 34573377
Achondrogenesis type II (ACG2) is a lethal skeletal dysplasia caused by dominant pathogenic variants in . Most of the variants found in patients with ACG2 affect the glycine residue included...
10.
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes
Provenzano A, La Barbera A, Scagnet M, Pagliazzi A, Traficante G, Pantaleo M, et al.
Hum Genet . 2020 Dec; 140(4):625-647. PMID: 33337535
Type 1 Chiari malformation (C1M) is characterized by cerebellar tonsillar herniation of 3-5 mm or more, the frequency of which is presumably much higher than one in 1000 births, as...