Eric Leguern
Overview
Explore the profile of Eric Leguern including associated specialties, affiliations and a list of published articles.
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Articles
118
Citations
3386
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Recent Articles
1.
de Sainte Agathe J, Leguern E
EBioMedicine
. 2024 Dec;
111():105505.
PMID: 39729883
No abstract available.
2.
Dahawi M, de Sainte Agathe J, Elmagzoub M, Ahmed E, Buratti J, Courtin T, et al.
Hum Genomics
. 2024 Nov;
18(1):130.
PMID: 39574152
Genetic generalized epilepsy (GGE) including childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy (JME), and GGE with tonic-clonic seizures (TCS) (GGE-TCS), is genetically influenced with a two- to four-...
3.
Sami L, Chipaux M, Ferrand-Sorbets S, Doladilhe M, Bulteau C, Raffo E, et al.
Neurol Genet
. 2024 Sep;
10(5):e200180.
PMID: 39246740
Objectives: Hypothalamic hamartomas (HHs) are rare developmental brain lesions associated with drug-resistant epilepsy and often subjected to epilepsy surgery. Brain somatic variants in genes affecting the Sonic hedgehog (Shh) and...
4.
Cogan G, Daida K, Billingsley K, Tesson C, Forlani S, Jornea L, et al.
Mov Disord
. 2024 Jun;
39(9):1647-1648.
PMID: 38943243
No abstract available.
5.
Cogan G, Daida K, Billingsley K, Tesson C, Forlani S, Jornea L, et al.
medRxiv
. 2024 May;
PMID: 38746197
Background: biallelic pathogenic variants are the most common cause of autosomal recessive early-onset Parkinson's disease (PD). However, the variants responsible for suspected PD individuals are not always identified with standard...
6.
Martins S, Yahia A, Costa I, Siddig H, Abubaker R, Koko M, et al.
Hum Genet
. 2023 Nov;
142(12):1747-1754.
PMID: 37957369
Machado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG) expansion. MJD has two major ancestral backgrounds: the Machado lineage, found mainly in Portuguese...
7.
de Sainte Agathe J, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, et al.
J Med Genet
. 2023 May;
60(10):999-1005.
PMID: 37185208
Purpose: was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive...
8.
Benquey T, Pion E, Cossee M, Krahn M, Stojkovic T, Perrin A, et al.
Genes (Basel)
. 2022 Feb;
13(2).
PMID: 35205364
Next generation sequencing (NGS) is strategically used for genetic diagnosis in patients with Charcot-Marie-Tooth disease (CMT) and related disorders called non-syndromic inherited peripheral neuropathies (NSIPN) in this paper. With over...
9.
Arnaud L, Abi Warde M, Barcia G, de Bellescize J, Chatron N, Faoucher M, et al.
Eur J Med Genet
. 2022 Jan;
65(3):104445.
PMID: 35091117
Background: The EPIGENE network was created in 2014 by four multidisciplinary teams composed of geneticists, pediatric neurologists and neurologists specialized in epileptology and neurophysiology. The ambition of the network was...
10.
Mereaux J, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, et al.
Brain
. 2022 Jan;
145(3):1029-1037.
PMID: 34983064
Hereditary spastic paraplegia refers to rare genetic neurodevelopmental and/or neurodegenerative disorders in which spasticity due to length-dependent damage to the upper motor neuron is a core sign. Their high clinical...