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Page 1
Pachymeningitis after meningococcal infection.
Toubiana J, Heilbronner C, Gitiaux C, Oualha M, Taha MK, Rousseau C, Picard C, Mira JP, Gendrel D. Toubiana J, et al. Among authors: gitiaux c. Lancet. 2013 May 4;381(9877):1596. doi: 10.1016/S0140-6736(13)60315-3. Lancet. 2013. PMID: 23642701 No abstract available.
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium. Panagiotakaki E, et al. Orphanet J Rare Dis. 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5. Orphanet J Rare Dis. 2015. PMID: 26410222 Free PMC article.
Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition.
Bayard C, Segna E, Taverne M, Fraissenon A, Hennocq Q, Periou B, Zerbib L, Ladraa S, Chapelle C, Hoguin C, Kaltenbach S, Villarese P, Asnafi V, Broissand C, Nemazanyy I, Autret G, Goudin N, Legendre C, Authier FJ, Viel T, Tavitian B, Gitiaux C, Fraitag S, Duong JP, Delcros C, Sergent B, Picard A, Dussiot M, Guibaud L, Khonsari R, Canaud G. Bayard C, et al. Among authors: gitiaux c. J Exp Med. 2023 Nov 6;220(11):e20230926. doi: 10.1084/jem.20230926. Epub 2023 Sep 15. J Exp Med. 2023. PMID: 37712948 Free PMC article.
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
Gardin A, Castelle M, Pichard S, Cano A, Chabrol B, Piarroux J, Roubertie A, Nadjar Y, Guemann AS, Tardieu M, Lacombe D, Robert MP, Caillaud C, Froissart R, Leboeuf V, Barbier V, Bouchereau J, Schiff M, Fauroux B, Thierry B, Luscan R, James S, de Saint-Denis T, Pannier S, Gitiaux C, Vergnaud E, Boddaert N, Lascourreges C, Lemoine M, Bonnet D, Blanche S, Dalle JH, Neven B, de Lonlay P, Brassier A. Gardin A, et al. Among authors: gitiaux c. Bone Marrow Transplant. 2023 Mar;58(3):295-302. doi: 10.1038/s41409-022-01886-1. Epub 2022 Dec 9. Bone Marrow Transplant. 2023. PMID: 36494569 Free PMC article.
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Mansour-Hendili L, Gitiaux C, Harion M, Latouche C, Heron B, Stojkovic T, Rama M, Smol T, Sophie Jourdain A, Mention K, Nadjar Y, Schiff M, Lemale J, Ghoumid J, Gottrand F, Talbotec C, Rötig A, Funalot B, Desguerre I. Mansour-Hendili L, et al. Among authors: gitiaux c. Front Genet. 2024 Jan 29;15:1352006. doi: 10.3389/fgene.2024.1352006. eCollection 2024. Front Genet. 2024. PMID: 38348452 Free PMC article.
[Pediatric myasthenia with ocular involvement].
Prud'homme L, Gitiaux C, Barnerias C, Orssaud C, Bremond-Gignac D, Robert MP. Prud'homme L, et al. Among authors: gitiaux c. J Fr Ophtalmol. 2024 Sep;47(7):104202. doi: 10.1016/j.jfo.2024.104202. Epub 2024 May 8. J Fr Ophtalmol. 2024. PMID: 38723375 French.
Polyradiculoneuritis on MRI: An Overlooked Feature of Biallelic POLG Gene Mutations in Infancy.
Roux CJ, Dufeu-Berat CM, Hully M, Rotig A, Schiff M, De Lonlay P, Aubart M, Alison M, Jaroussie M, Levy R, Dangouloff-Ros V, Barcia G, Desguerre I, Munnich A, Gitiaux C, Boddaert N. Roux CJ, et al. Among authors: gitiaux c. Neurology. 2024 Jun;102(11):e209356. doi: 10.1212/WNL.0000000000209356. Epub 2024 May 16. Neurology. 2024. PMID: 38754044 No abstract available.
110 results