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249 results

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Page 1
Gene Therapy in Patients with the Crigler-Najjar Syndrome.
D'Antiga L, Beuers U, Ronzitti G, Brunetti-Pierri N, Baumann U, Di Giorgio A, Aronson S, Hubert A, Romano R, Junge N, Bosma P, Bortolussi G, Muro AF, Soumoudronga RF, Veron P, Collaud F, Knuchel-Legendre N, Labrune P, Mingozzi F. D'Antiga L, et al. Among authors: labrune p. N Engl J Med. 2023 Aug 17;389(7):620-631. doi: 10.1056/NEJMoa2214084. N Engl J Med. 2023. PMID: 37585628 Clinical Trial.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
van Karnebeek CDM, Tarailo-Graovac M, Leen R, Meinsma R, Correard S, Jansen-Meijer J, Prykhozhij SV, Pena IA, Ban K, Schock S, Saxena V, Pras-Raves ML, Drögemöller BI, Grootemaat AE, van der Wel NN, Dobritzsch D, Roseboom W, Schomakers BV, Jaspers YRJ, Zoetekouw L, Roelofsen J, Ferreira CR, van der Lee R, Ross CJ, Kochan J, McIntyre RL, van Klinken JB, van Weeghel M, Kramer G, Weschke B, Labrune P, Willemsen MA, Riva D, Garavaglia B, Moeschler JB, Filiano JJ, Ekker M, Berman JN, Dyment D, Vaz FM, Wasserman WW, Houtkooper RH, van Kuilenburg ABP. van Karnebeek CDM, et al. Among authors: labrune p. Genet Med. 2024 Jun;26(6):101104. doi: 10.1016/j.gim.2024.101104. Epub 2024 Feb 24. Genet Med. 2024. PMID: 38411040 Free PMC article.
French recommendations for the management of glycogen storage disease type III.
Wicker C, Cano A, Decostre V, Froissart R, Maillot F, Perry A, Petit F, Voillot C, Wahbi K, Wenz J, Laforêt P, Labrune P. Wicker C, et al. Among authors: labrune p. Eur J Med Res. 2023 Jul 24;28(1):253. doi: 10.1186/s40001-023-01212-5. Eur J Med Res. 2023. PMID: 37488624 Free PMC article. Review.
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.
Jeanne M, Ronce N, Remizé S, Arpin S, Baujat G, Breton S, Petit F, Vanlerberghe C, Coeslier-Dieux A, Manouvrier-Hanu S, Vincent-Delorme C, Khau Van Kien P, Van-Gils J, Quélin C, Pasquier L, Odent S, Demurger F, Laffargue F, Francannet C, Martin-Coignard D, Afenjar A, Whalen S, Verloes A, Capri Y, Delahaye A, Plaisancié J, Labrune P, Destree A, Maystadt I, Ciorna Monferrato V, Isidor B, Vincent M, Jean Marçais N, Nambot S, Schaefer E, El Chehadeh S, Lespinasse J, Collignon P, Busa T, Philip N, Willems M, Planes M, Vanakker OM, Lambert L, Leheup B, Mathieu-Dramard M, Morin G, Dieterich K, Ginglinger E, Bayat A, Balasubramanian M, Dauriat B, Haye D, Amiel J, Rio M, Cormier-Daire V, Toutain A. Jeanne M, et al. Among authors: labrune p. J Med Genet. 2025 Mar 20;62(4):258-267. doi: 10.1136/jmg-2022-108868. J Med Genet. 2025. PMID: 39798962 Free article.
Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays.
Bizot E, Jouni D, Rooryck C, Taylor J, Legendre M, Charbonnier L, Metreau J, Benaloun E, Pinson A, Quenum G, Bouligand J, Tachdjian G, Labrune P, Tosca L. Bizot E, et al. Among authors: labrune p. Clin Genet. 2025 Dec;108(6):731-741. doi: 10.1111/cge.14781. Epub 2025 Jun 30. Clin Genet. 2025. PMID: 40583527 Free PMC article.
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases.
Cano A, Chen X, Khemiri A, Brassier A, Jean-Baptiste A, Froissart R, Bouchereau J, Hoebeke C, Mazodier K, Héron B, Labrune P, Caillaud C, Cheillan D, Nadjar Y, Pichard S, Imbard A, Pettazzoni M, Douillard C, Nadia B, Calatayud AL, Zerguini M, Garcelon N, Benoist JF, Acquaviva C, De Lonlay P; other members of the expert group consortium. Cano A, et al. Among authors: labrune p. J Inherit Metab Dis. 2026 Mar;49(2):e70160. doi: 10.1002/jimd.70160. J Inherit Metab Dis. 2026. PMID: 41702545 Free PMC article.
Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases.
Douillard C, Poujois A, Belmatoug N, Lidove O, Leguy-Seguin V, Mauhin W, Gorce M, Cano A, Labrune P, Mazodier K, Wicker C, Maillot F, Brassier A, Guemann AS, Habes D, Abi-Warde MT, Redonnet-Vernhet I, Germain DP, Lavigne C, Khemiri A, Mention K, Dao M, Héron B, Berger MG, Lonlay P. Douillard C, et al. Among authors: labrune p. Orphanet J Rare Dis. 2026 Feb 14;21(1):71. doi: 10.1186/s13023-026-04230-8. Orphanet J Rare Dis. 2026. PMID: 41689122 Free PMC article.
Enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type III.
Montalvo-Romeral V, Jauze L, Perrot G, Amaouche M, Gardin A, Aguilar González A, Leblond A, Zitoun-Ardon C, Evrard F, Cosette J, Tatout C, Bordier F, Bertil-Froidevaux E, Georger C, van Wittenberghe L, Paradis V, Gay S, Dujardin F, Maillot F, Gautier-Stein A, Mithieux G, Malfatti E, Mussini C, Labrune P, Mayeuf-Louchart A, Ronzitti G, Rajas F. Montalvo-Romeral V, et al. Among authors: labrune p. JHEP Rep. 2025 Dec 2;8(3):101702. doi: 10.1016/j.jhepr.2025.101702. eCollection 2026 Mar. JHEP Rep. 2025. PMID: 41659772 Free PMC article.
249 results