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Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study.
Pediatr Neurol. 2024 Oct;159:16-25. doi: 10.1016/j.pediatrneurol.2024.07.007. Epub 2024 Jul 15.
Pediatr Neurol. 2024.
PMID: 39094250
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y, Vandroux M, Romero NB, Schneider R, Saker S, Boland A, Deleuze JF, Biancalana V, Böhm J, Laporte J.
de Feraudy Y, et al.
Genome Med. 2024 Jul 9;16(1):87. doi: 10.1186/s13073-024-01353-0.
Genome Med. 2024.
PMID: 38982518
Free PMC article.
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The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.
Jimenez-Armijo A, Morkmued S, Ahumada JT, Kharouf N, de Feraudy Y, Gogl G, Riet F, Niederreither K, Laporte J, Birling MC, Selloum M, Herault Y, Hernandez M, Bloch-Zupan A.
Jimenez-Armijo A, et al. Among authors: de feraudy y.
Sci Rep. 2024 Jan 3;14(1):445. doi: 10.1038/s41598-023-50870-2.
Sci Rep. 2024.
PMID: 38172607
Free PMC article.
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Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
Wicker C, Roux CJ, Goujon L, de Feraudy Y, Hully M, Brassier A, Bérat CM, Chemaly N, Wiedemann A, Damaj L, Abi-Warde MT, Dobbelaere D, Roubertie A, Cano A, Arion A, Kaminska A, Da Costa S, Bruneel A, Vuillaumier-Barrot S, Boddaert N, Pascreau T, Borgel D, Kossorotoff M, Harroche A, de Lonlay P.
Wicker C, et al. Among authors: de feraudy y.
Mol Genet Metab. 2023 Nov;140(3):107674. doi: 10.1016/j.ymgme.2023.107674. Epub 2023 Jul 31.
Mol Genet Metab. 2023.
PMID: 37542768
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Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F, Gras D, Luton MP, Nizou M, Giovannini D, Delattre C, Aubart M, Barth M, De Saint-Martin A, Doummar D, Essid N, Garros A, Le Camus CH, Hoebeke C, The Tich SN, Perivier M, Rivera S, Rolland A, Roubertie A, Sarret C, Sevin C, Ville D, Sitbon M, Costa JM, Pons R, Garcia-Cazorla A, Vuillaumier S, Petit V, Boespflug-Tanguy O, De Vivo DC; MetaGlut1 Study Group.
Mochel F, et al.
Neurology. 2023 Jun 6;100(23):e2360-e2373. doi: 10.1212/WNL.0000000000207296. Epub 2023 Apr 19.
Neurology. 2023.
PMID: 37076312
Free PMC article.
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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Labasse C, Brochier G, Taratuto AL, Cadot B, Rendu J, Monges S, Biancalana V, Quijano-Roy S, Bui MT, Chanut A, Madelaine A, Lacène E, Beuvin M, Amthor H, Servais L, de Feraudy Y, Erro M, Saccoliti M, Neto OA, Fauré J, Lannes B, Laugel V, Coppens S, Lubieniecki F, Bello AB, Laing N, Evangelista T, Laporte J, Böhm J, Romero NB.
Labasse C, et al. Among authors: de feraudy y.
Acta Neuropathol Commun. 2022 Jul 9;10(1):101. doi: 10.1186/s40478-022-01400-0.
Acta Neuropathol Commun. 2022.
PMID: 35810298
Free PMC article.
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Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy.
de Feraudy Y, Ben Yaou R, Wahbi K, Stalens C, Stantzou A, Laugel V, Desguerre I; FILNEMUS Network; Servais L, Leturcq F, Amthor H.
de Feraudy Y, et al.
Ann Neurol. 2021 Feb;89(2):280-292. doi: 10.1002/ana.25951. Epub 2020 Nov 24.
Ann Neurol. 2021.
PMID: 33159473
Free PMC article.
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miR-141 and miR-200a act on ovarian tumorigenesis by controlling oxidative stress response.
Mateescu B, Batista L, Cardon M, Gruosso T, de Feraudy Y, Mariani O, Nicolas A, Meyniel JP, Cottu P, Sastre-Garau X, Mechta-Grigoriou F.
Mateescu B, et al. Among authors: de feraudy y.
Nat Med. 2011 Nov 20;17(12):1627-35. doi: 10.1038/nm.2512.
Nat Med. 2011.
PMID: 22101765
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