Antonio Atalaia
Overview
Explore the profile of Antonio Atalaia including associated specialties, affiliations and a list of published articles.
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Articles
19
Citations
135
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0
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Recent Articles
1.
Delgado-Chaves F, Jennings M, Atalaia A, Wolff J, Horvath R, Mamdouh Z, et al.
Proc Natl Acad Sci U S A
. 2025 Jan;
122(2):e2411962122.
PMID: 39761403
Systematic reviews (SR) synthesize evidence-based medical literature, but they involve labor-intensive manual article screening. Large language models (LLMs) can select relevant literature, but their quality and efficacy are still being...
2.
Pion E, Bonne G, Atalaia A, Salort-Campana E, Gorokhova S, Attarian S, et al.
Med Sci (Paris)
. 2024 Nov;
40 Hors série n° 1:6-8.
PMID: 39555868
High-throughput sequencing has introduced the concept of "actionable genes". These genes are linked to diseases for which specific treatments or care exist. Accurate genetic diagnosis is therefore crucial for initiating...
3.
Atalaia A, Wandrei D, Lalout N, Thompson R, Tassoni A, t Hoen P, et al.
Orphanet J Rare Dis
. 2024 Feb;
19(1):66.
PMID: 38355534
Background: The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, meaningful, and...
4.
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...
5.
Hamilton M, Atalaia A, McLean J, Cumming S, Evans J, Ballantyne B, et al.
Neuromuscul Disord
. 2022 Apr;
32(5):377-389.
PMID: 35361525
Abnormalities of sleep are common in myotonic dystrophy type 1 (DM1), but few previous studies have combined polysomnography with detailed clinical measures and brain imaging. In the present study, domiciliary...
6.
Benarroch L, Cohen E, Atalaia A, Ben Yaou R, Bonne G, Bertrand A
J Clin Med
. 2021 Nov;
10(21).
PMID: 34768351
Laminopathies are a group of rare disorders due to mutation in gene. Depending on the mutation, they may affect striated muscles, adipose tissues, nerves or are multisystemic with various accelerated...
7.
Atalaia A, Thompson R, Corvo A, Carmody L, Piscia D, Matalonga L, et al.
Orphanet J Rare Dis
. 2021 Mar;
16(1):145.
PMID: 33752678
No abstract available.
8.
Atalaia A, Ben Yaou R, Wahbi K, De Sandre-Giovannoli A, Vigouroux C, Bonne G
J Neuromuscul Dis
. 2021 Mar;
8(3):419-439.
PMID: 33682723
Background: Variants in the LMNA gene, encoding lamins A/C, are responsible for a growing number of diseases, all of which complying with the definition of rare diseases. LMNA-related disorders have...
9.
Atalaia A, Thompson R, Corvo A, Carmody L, Piscia D, Matalonga L, et al.
Orphanet J Rare Dis
. 2020 Aug;
15(1):206.
PMID: 32787960
Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis,...
10.
Jennings M, Lochmuller A, Atalaia A, Horvath R
J Neuromuscul Dis
. 2020 Aug;
8(3):383-400.
PMID: 32773395
Background: Hereditary peripheral neuropathies are inherited disorders affecting the peripheral nervous system, including Charcot-Marie-Tooth disease, familial amyloid polyneuropathy and hereditary sensory and motor neuropathies. While the molecular basis of hereditary...