Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1974 1
1981 1
1997 1
2018 1
2019 3
2020 7
2021 12
2022 11
2023 13
2024 14
2025 9

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

61 results

Results by year

Filters applied: . Clear all
Page 1
Tubulin mutations in human neurodevelopmental disorders.
Maillard C, Roux CJ, Charbit-Henrion F, Steffann J, Laquerriere A, Quazza F, Buisson NB. Maillard C, et al. Among authors: roux cj. Semin Cell Dev Biol. 2023 Mar 15;137:87-95. doi: 10.1016/j.semcdb.2022.07.009. Epub 2022 Jul 30. Semin Cell Dev Biol. 2023. PMID: 35915025 Review.
Teenager Febrile Dystextia.
Perrin de Brichambaut F, Dupuy G, Sarda E, Boddaert N, Roux CJ, Dabaj I, Marret S, Aubart M, Desguerre I. Perrin de Brichambaut F, et al. Among authors: roux cj. Eur J Neurol. 2025 Mar;32(3):e70059. doi: 10.1111/ene.70059. Eur J Neurol. 2025. PMID: 39995375 Free PMC article.
Childhood POLG-related disorders: Focus on polyradiculoneuropathy.
Bérat CM, Hully M, Rötig A, Barcia G, Assouline Z, Abi-Warde MT, Barnerias C, Payen E, Jaroussie M, Gaignard P, Lebigot E, Roubertie A, Boddaert N, Roux CJ, de Lonlay P, Desguerre I, Munnich A, Schiff M, Gitiaux C. Bérat CM, et al. Among authors: roux cj. Mol Genet Metab. 2025 Sep-Oct;146(1-2):109213. doi: 10.1016/j.ymgme.2025.109213. Epub 2025 Jul 30. Mol Genet Metab. 2025. PMID: 40811876 Free article.
De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism.
Riva M, Ferreira S, Hayashi K, Saillour Y, Medvedeva VP, Honda T, Hayashi K, Altersitz C, Albadri S, Rosello M, Dang J, Serafini M, Causeret F, Henry OJ, Roux CJ, Bellesme C, Freri E, Josifova D, Parrini E, Guerrini R, Del Bene F, Nakajima K, Bahi-Buisson N, Pierani A. Riva M, et al. Among authors: roux cj. J Clin Invest. 2024 Jul 9;134(16):e153097. doi: 10.1172/JCI153097. J Clin Invest. 2024. PMID: 38980724 Free PMC article.
Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies.
Benjamin P, Sudhakar S, D'Arco F, Löbel U, Carney O, Roux CJ, Boddaert N, Hemingway C, Eleftheriou D, Mankad K. Benjamin P, et al. Among authors: roux cj. AJNR Am J Neuroradiol. 2022 Jan;43(1):2-10. doi: 10.3174/ajnr.A7362. Epub 2021 Dec 23. AJNR Am J Neuroradiol. 2022. PMID: 34949589 Free PMC article. Review.
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.
Rötig A, Gaignard P, Barcia G, Assouline Z, Berat CM, Barth M, Damaj L, Laborde N, Abi-Warde MT, Chabrol B, De Lonlay P, Desguerre I, Goldenberg A, Gonzales E, Jacquemin E, Amati-Bonneau P, Bonneau D, Abadie V, Bonnemains C, Broue P, De Saint-Martin A, Durand P, Fouilhoux A, Isidor B, Jaroussie M, Jedraszak G, Maurey H, Mention K, Odent SS, Pasquier L, Rougeot-Jung C, Gitiaux C, Roux CJ, Boddaert N, Munnich A, Schiff M. Rötig A, et al. Among authors: roux cj. Neurol Genet. 2024 Jul 3;10(4):e200167. doi: 10.1212/NXG.0000000000200167. eCollection 2024 Aug. Neurol Genet. 2024. PMID: 38975049 Free PMC article.
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.
A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol.
Luu M, Vabres P, Espitalier A, Maurer A, Garde A, Racine C, Carpentier M, Rega A, Loffroy R, Hadouiri N, Boddaert N, Curie A, Guibaud L, Chebbi M, Charligny J, Kuentz P, Canaud G, Bahi-Buisson N, Fleck C, Cransac A, Bardou M, Faivre L; SESAM study group. Luu M, et al. BMJ Open. 2024 Dec 20;14(12):e084614. doi: 10.1136/bmjopen-2024-084614. BMJ Open. 2024. PMID: 39806603 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
Incidental Brain MRI Findings in Children: A Systematic Review and Meta-Analysis.
Dangouloff-Ros V, Roux CJ, Boulouis G, Levy R, Nicolas N, Lozach C, Grevent D, Brunelle F, Boddaert N, Naggara O. Dangouloff-Ros V, et al. Among authors: roux cj. AJNR Am J Neuroradiol. 2019 Nov;40(11):1818-1823. doi: 10.3174/ajnr.A6281. Epub 2019 Oct 17. AJNR Am J Neuroradiol. 2019. PMID: 31624116 Free PMC article.
61 results