Aida M Bertoli-Avella
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Explore the profile of Aida M Bertoli-Avella including associated specialties, affiliations and a list of published articles.
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76
Citations
2001
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Recent Articles
1.
Bertoli-Avella A, Radefeldt M, Al-Ali R, Pardo L, Lemke S, Leubauer A, et al.
Eur J Hum Genet
. 2025 Jan;
PMID: 39870877
We aimed to assess the impact of splicing variants reported in our laboratory to gain insight into their clinical relevance. A total of 108 consecutive individuals, for whom 113 splicing...
2.
Zonic E, Ferreira M, Pardo L, Martini J, Rocha M, Aanicai R, et al.
Genet Med Open
. 2024 Dec;
1(1):100833.
PMID: 39669245
Purpose: With this study, we aimed to explore the gene-disease relationship (GDR) evidence for 109 gene-disease pairs and the significance of a large Biodatabank for this classification. Methods: The Clinical...
3.
Rosner S, Pardo L, Bertoli-Avella A, Skrahina V, Engel P, Schroder S, et al.
J Clin Med
. 2024 Oct;
13(20).
PMID: 39458146
: Hereditary transthyretin-related amyloidosis is a clinically heterogeneous autosomal dominant disease caused by pathogenic variants in the gene (hATTR amyloidosis). The current study describes the demographic, clinical, and genetic characteristics...
4.
Magrinelli F, Tesson C, Angelova P, Salazar-Villacorta A, Rodriguez J, Scardamaglia A, et al.
medRxiv
. 2024 Aug;
PMID: 39148840
Dissecting biological pathways highlighted by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration. This approach ultimately catalyzes the identification of potential biomarkers...
5.
Elkhateeb N, Issa M, Elbendary H, ElNaggar W, Ramadan A, Rafat K, et al.
Clin Genet
. 2024 Jan;
105(5):510-522.
PMID: 38221827
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of epilepsies characterized by early-onset, refractory seizures associated with developmental regression or impairment, with a heterogeneous genetic landscape including genes implicated...
6.
Pardo L, Aanicai R, Zonic E, Hakonen A, Zielske S, Bauer P, et al.
Clin Genet
. 2023 Oct;
105(2):196-201.
PMID: 37850357
Syndromic constitutive thrombocytopenia encompasses a heterogeneous group of disorders characterised by quantitative and qualitative defects of platelets while featuring other malformations. Recently, heterozygous, de novo variants in RAP1B were reported...
7.
Alabdulrazzaq F, AlAnzi T, Al-Balool H, Gardham A, Wakeling E, Leitch H, et al.
Mol Genet Genomic Med
. 2023 Aug;
11(12):e2256.
PMID: 37592902
Background: Very long-chain fatty acids (VLCFAs) composed of more than 20 carbon atoms are essential in the biosynthesis of cell membranes in the brain, skin, and retina. VLCFAs are elongated...
8.
Smits D, Schot R, Popescu C, Dias K, Ades L, Briere L, et al.
Hum Genet
. 2023 May;
142(7):949-964.
PMID: 37198333
The minichromosome maintenance (MCM) complex acts as a DNA helicase during DNA replication, and thereby regulates cell cycle progression and proliferation. In addition, MCM-complex components localize to centrosomes and play...
9.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kuhn N, et al.
Acta Neuropathol
. 2023 Apr;
146(2):353-368.
PMID: 37119330
Hereditary spastic paraplegias (HSP) are rare, inherited neurodegenerative or neurodevelopmental disorders that mainly present with lower limb spasticity and muscle weakness due to motor neuron dysfunction. Whole genome sequencing identified...
10.
Westenberger A, Ruiz-Herrera A, Bozdogan S, Bisgin A, AlMuqbil M, Alhashem A, et al.
Mov Disord
. 2023 Feb;
38(3):502-504.
PMID: 36781603
No abstract available.