Aida Telegrafi
Overview
Explore the profile of Aida Telegrafi including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
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42
Citations
844
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Recent Articles
1.
Mullegama S, Kiernan K, Torti E, Pavlovsky E, Tilton N, Sekula A, et al.
Am J Hum Genet
. 2024 May;
111(6):1240.
PMID: 38749428
No abstract available.
2.
Mullegama S, Kiernan K, Torti E, Pavlovsky E, Tilton N, Sekula A, et al.
Am J Hum Genet
. 2024 Mar;
111(4):778-790.
PMID: 38531365
Selenophosphate synthetase (SEPHS) plays an essential role in selenium metabolism. Two mammalian SEPHS paralogues, SEPHS1 and SEPHS2, share high sequence identity and structural homology with SEPHS. Here, we report nine...
3.
Accogli A, Lin S, Severino M, Kim S, Huang K, Rocca C, et al.
Genet Med
. 2023 Jul;
25(11):100938.
PMID: 37454282
Purpose: Biallelic variants in TARS2, encoding the mitochondrial threonyl-tRNA-synthetase, have been reported in a small group of individuals displaying a neurodevelopmental phenotype but with limited neuroradiological data and insufficient evidence...
4.
Calame D, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, et al.
Brain
. 2023 Apr;
146(8):3162-3171.
PMID: 37043503
ATP1A3 encodes the α3 subunit of the sodium-potassium ATPase, one of two isoforms responsible for powering electrochemical gradients in neurons. Heterozygous pathogenic ATP1A3 variants produce several distinct neurological syndromes, yet...
5.
Sobering A, Bryant L, Li D, McGaughran J, Maystadt I, Moortgat S, et al.
HGG Adv
. 2022 Dec;
4(1):100168.
PMID: 36583168
[This corrects the article DOI: 10.1016/j.xhgg.2022.100102.].
6.
Beyltjens T, Boudin E, Revencu N, Boeckx N, Bertrand M, Schutz L, et al.
J Med Genet
. 2022 Oct;
60(5):498-504.
PMID: 36241386
Background: Cleidocranial dysplasia (CCD) is a rare skeletal dysplasia with significant clinical variability. Patients with CCD typically present with delayed closure of fontanels and cranial sutures, dental anomalies, clavicular hypoplasia...
7.
Wirth T, Garone G, Kurian M, Piton A, Millan F, Telegrafi A, et al.
Mov Disord
. 2022 Jun;
37(7):1547-1554.
PMID: 35722775
Background: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea. Objective: The aim was to characterize the clinical and genetic features of...
8.
Scala M, Drouot N, MacLennan S, Wessels M, Krygier M, Pavinato L, et al.
Hum Mutat
. 2022 May;
43(9):1299-1313.
PMID: 35607920
Alternative splicing (AS) is crucial for cell-type-specific gene transcription and plays a critical role in neuronal differentiation and synaptic plasticity. De novo frameshift variants in NOVA2, encoding a neuron-specific key...
9.
Sobering A, Bryant L, Li D, McGaughran J, Maystadt I, Moortgat S, et al.
HGG Adv
. 2022 Apr;
3(3):100102.
PMID: 35469323
Loss-of-function variants in () cause Siderius X-linked intellectual disability (ID) syndrome, hereafter called PHF8-XLID. PHF8 is a histone demethylase that is important for epigenetic regulation of gene expression. PHF8-XLID is...
10.
May H, Jeong J, Revah-Politi A, Cohen J, Chassevent A, Baptista J, et al.
Genet Med
. 2021 Jun;
23(10):1912-1921.
PMID: 34113010
Purpose: In this study, we aimed to characterize the clinical phenotype of a SHANK1-related disorder and define the functional consequences of SHANK1 truncating variants. Methods: Exome sequencing (ES) was performed...