Cyril Gitiaux
Overview
Explore the profile of Cyril Gitiaux including associated specialties, affiliations and a list of published articles.
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84
Citations
1110
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Recent Articles
1.
Barriere S, Manel V, Barnerias C, Wahbi K, Audic F, Cances C, et al.
Arch Pediatr
. 2025 Jan;
32(2):107-113.
PMID: 39875220
Background: Myotonia is the main feature of both myotonic dystrophy (DM) and non-dystrophic myotonia (NDM). It is felt as stiffness, pain, fatigue, and weakness. In France, mexiletine, a non-selective voltage-gated...
2.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, et al.
Genet Med
. 2024 Dec;
27(4):101347.
PMID: 39707840
Purpose: RORA encodes the RAR-related orphan receptor-α, playing a pivotal role in cerebellar maturation and function. Here, we report the largest series of individuals with RORA-related-neurodevelopmental disorder. Methods: Forty individuals...
3.
Massenet J, Weiss-Gayet M, Bandukwala H, Bouchereau W, Gobert S, Magnan M, et al.
iScience
. 2024 Dec;
27(12):111350.
PMID: 39650736
In Duchenne muscular dystrophy (DMD), muscle stem cells' (MuSCs) regenerative capacities are overwhelmed leading to fibrosis. Whether MuSCs have intrinsic defects or are disrupted by their environment is unclear. We...
4.
Zanetti A, Dujardin G, Fares-Taie L, Amiel J, Roger J, Audo I, et al.
Nat Commun
. 2024 Nov;
15(1):10096.
PMID: 39572588
Here we conduct a study involving 12 individuals with retinal dystrophy, neurological impairment, and skeletal abnormalities, with special focus on GPATCH11, a lesser-known G-patch domain-containing protein, regulator of RNA metabolism....
5.
Molimard A, Gitiaux C, Barnerias C, Audic F, Isapof A, Walther-Louvier U, et al.
Med Sci (Paris)
. 2024 Nov;
40 Hors série n° 1:22-25.
PMID: 39555872
The therapeutic management of autoimmune myasthenia gravis in children presents several particularities, which motivate the optimization of therapeutic management. On the one hand, corticosteroids are recommended as first-line immunosuppressive therapy,...
6.
Chazaud B, Gitiaux C
Med Sci (Paris)
. 2024 Nov;
40 Hors série n° 1:5.
PMID: 39555867
No abstract available.
7.
Sperelakis-Beedham B, Gitiaux C, Rajaoba M, Magen M, Derive N, Chansard J, et al.
Eur J Hum Genet
. 2024 Nov;
33(1):137-140.
PMID: 39496895
Friedreich's Ataxia (FRDA) is the most common hereditary ataxia and is mainly caused by biallelic GAA repeat expansion in the FXN gene. Rare patients carrying FXN point mutations or intragenic...
8.
Barcia G, Scorrano G, Rio M, Gitiaux C, Hully M, Poirier K, et al.
Eur J Med Genet
. 2024 Oct;
72:104979.
PMID: 39423951
Biallelic pathogenic variants in CNTNAP2, a gene encoding the contactin-associated protein-like 2, have been reported in patients with various clinical presentations including intellectual disability (ID), autistic spectrum disorders (ASD), psychiatric...
9.
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency
Rotig A, Gaignard P, Barcia G, Assouline Z, Berat C, Barth M, et al.
Neurol Genet
. 2024 Jul;
10(4):e200167.
PMID: 38975049
Background And Objectives: DNA polymerase subunit gamma (POLG) deficiency is likely the most frequent cause of nuclear-encoded mitochondrial disorders. -related disorders reportedly constitute a spectrum of overlapping phenotypes from infancy...
10.
Roux C, Dufeu-Berat C, Hully M, Rotig A, Schiff M, de Lonlay P, et al.
Neurology
. 2024 May;
102(11):e209356.
PMID: 38754044
No abstract available.