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Page 1
Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype.
Coste T, Aloui C, Petit F, Moutton S, Devisme L, Wells CF, Leboucq N, Verpillat P, Yvert M, Rivier F, Tournier-Lasserve E. Coste T, et al. Among authors: leboucq n. Ultrasound Obstet Gynecol. 2022 Dec;60(6):805-811. doi: 10.1002/uog.26046. Ultrasound Obstet Gynecol. 2022. PMID: 35943828 Free PMC article.
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ. Rice GI, et al. Among authors: leboucq n. Neuropediatrics. 2017 Jun;48(3):166-184. doi: 10.1055/s-0037-1601449. Epub 2017 Apr 10. Neuropediatrics. 2017. PMID: 28561207 Free PMC article.
AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?
Roubertie A, Hieu N, Roux CJ, Leboucq N, Manes G, Charif M, Echenne B, Goizet C, Guissart C, Meyer P, Marelli C, Rivier F, Burglen L, Horvath R, Hamel CP, Lenaers G. Roubertie A, et al. Among authors: leboucq n. Neurol Genet. 2018 Jan 24;4(1):e217. doi: 10.1212/NXG.0000000000000217. eCollection 2018 Feb. Neurol Genet. 2018. PMID: 29473051 Free PMC article.
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies.
Perrin A, Juntas Morales R, Rivier F, Cances C, Walther-Louvier U, Van Goethem C, Thèze C, Lacourt D, Pégeot H, Zenagui R, Uro-Coste E, Leboucq N, Malfatti E, Delaby C, Lehmann S, Rigau V, Koenig M, Cossée M. Perrin A, et al. Among authors: leboucq n. Neuromuscul Disord. 2020 Nov;30(11):877-887. doi: 10.1016/j.nmd.2020.09.032. Epub 2020 Sep 28. Neuromuscul Disord. 2020. PMID: 33127292 Free article.
[Mitochondrial neurogastrointestinal encephalopathy disease].
Benureau A, Meyer P, Maillet O, Leboucq N, Legras S, Jeziorski E, Fournier-Favre S, Jeandel C, Gaignard P, Slama A, Rivier F, Roubertie A, Carneiro M. Benureau A, et al. Among authors: leboucq n. Arch Pediatr. 2014 Dec;21(12):1370-4. doi: 10.1016/j.arcped.2014.08.006. Epub 2014 Oct 2. Arch Pediatr. 2014. PMID: 25282463 French.
85 results