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Page 1
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Wortmann SB, Feichtinger RG, Abela L, van Gemert LA, Aubart M, Dufeu-Berat CM, Boddaert N, de Coo R, Stühn L, Hebbink J, Heinritz W, Hildebrandt J, Himmelreich N, Korenke C, Lehman A, Leyland T, Makowski C, Martinez Marin RJ, Marzin P, Mühlhausen C, Rio M, Rotig A, Roux CJ, Schiff M, Haack TB, Syrbe S, Zylicz SA, Thiel C, Veiga da Cunha M, van Schaftingen E, Wagner M, Mayr JA, Wevers RA, Boltshauser E, Willemsen MA. Wortmann SB, et al. Among authors: roux cj. Neurol Genet. 2024 Apr 5;10(2):e200146. doi: 10.1212/NXG.0000000000200146. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38617198 Free PMC article.
Severe Acute Flaccid Myelitis Associated With Enterovirus in Children: Two Phenotypes for Two Evolution Profiles?
Aubart M, Gitiaux C, Roux CJ, Levy R, Schuffenecker I, Mirand A, Bach N, Moulin F, Bergounioux J, Leruez-Ville M, Rozenberg F, Sterlin D, Musset L, Antona D, Boddaert N, Zhang SY, Kossorotoff M, Desguerre I. Aubart M, et al. Among authors: roux cj. Front Neurol. 2020 Apr 28;11:343. doi: 10.3389/fneur.2020.00343. eCollection 2020. Front Neurol. 2020. PMID: 32411086 Free PMC article.
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
Barcia G, Rio M, Assouline Z, Zangarelli C, Roux CJ, de Lonlay P, Steffann J, Desguerre I, Munnich A, Bonnefont JP, Boddaert N, Rötig A, Metodiev MD, Ruzzenente B. Barcia G, et al. Among authors: roux cj. Eur J Hum Genet. 2021 Mar;29(3):533-538. doi: 10.1038/s41431-020-00757-x. Epub 2020 Nov 9. Eur J Hum Genet. 2021. PMID: 33168986 Free PMC article.
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
Pennisi A, Rötig A, Roux CJ, Lévy R, Henneke M, Gärtner J, Teke Kisa P, Sarioglu FC, Yiş U, Konczal LL, Burkardt DD, Wu S, Gaignard P, Besmond C, Hubert L, Rio M, Barcia G, Munnich A, Boddaert N, Schiff M. Pennisi A, et al. Among authors: roux cj. J Med Genet. 2022 Feb;59(2):204-208. doi: 10.1136/jmedgenet-2020-107367. Epub 2020 Nov 16. J Med Genet. 2022. PMID: 33199448
Biallelic IARS2 mutations presenting as sideroblastic anemia.
Barcia G, Pandithan D, Ruzzenente B, Assouline Z, Pennisi A, Ormieres C, Besmond C, Roux CJ, Boddaert N, Desguerre I, Thorburn DR, Bratkovic D, Munnich A, Bonnefont JP, Rötig A, Steffann J. Barcia G, et al. Among authors: roux cj. Haematologica. 2021 Apr 1;106(4):1220-1225. doi: 10.3324/haematol.2020.270710. Haematologica. 2021. PMID: 33327715 Free PMC article.
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.
Loiselet K, Ruzzenente B, Roux CJ, Barcia G, Pennisi A, Desguerre I, Rötig A, Munnich A, Boddaert N; Paediatric Radiology and Metabolics Group. Loiselet K, et al. Among authors: roux cj. Dev Med Child Neurol. 2021 Jun;63(6):705-711. doi: 10.1111/dmcn.14814. Epub 2021 Jan 28. Dev Med Child Neurol. 2021. PMID: 33511646 Free article.
Systemic inflammatory syndrome in children with FARSA deficiency.
Charbit-Henrion F, Goguyer-Deschaumes R, Borensztajn K, Mirande M, Berthelet J, Rodrigues-Lima F, Khiat A, Frémond ML, Bader-Meunier B, Rodari MM, Seabra L, Rice GI, Legendre M, Drummond D, Berteloot L, Roux CJ, Boddaert N, Drabent P, Molina TJ, Lacaille F, Kossorotoff M, Cerf-Bensussan N, Parlato M, Hadchouel A. Charbit-Henrion F, et al. Among authors: roux cj. Clin Genet. 2022 May;101(5-6):552-558. doi: 10.1111/cge.14120. Epub 2022 Feb 17. Clin Genet. 2022. PMID: 35132614 Free PMC article.
Clinical and radiological description of 120 pediatric stroke-like episodes.
Durrleman C, Grevent D, Aubart M, Kossorotoff M, Roux CJ, Kaminska A, Rio M, Barcia G, Boddaert N, Munnich A, Nabbout R, Desguerre I. Durrleman C, et al. Among authors: roux cj. Eur J Neurol. 2023 Jul;30(7):2051-2061. doi: 10.1111/ene.15821. Epub 2023 May 10. Eur J Neurol. 2023. PMID: 37046408
46 results