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MAST1-related mega-corpus-callosum syndrome with central hypogonadism.
Sloboda N, Renard E, Lambert L, Bonnet C, Leheup B, Todosi C, Schmitt E, Feillet F, Feigerlova E, Piton A, Journeau P, Klein M, Maillard L, Chelly J, Renaud M. Sloboda N, et al. Among authors: renaud m. Eur J Med Genet. 2023 Nov;66(11):104853. doi: 10.1016/j.ejmg.2023.104853. Epub 2023 Sep 25. Eur J Med Genet. 2023. PMID: 37758169
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.
Ravel JM, Benkirane M, Calmels N, Marelli C, Ory-Magne F, Ewenczyk C, Halleb Y, Tison F, Lecocq C, Pische G, Casenave P, Chaussenot A, Frismand S, Tyvaert L, Larrieu L, Pointaux M, Drouot N, Bossenmeyer-Pourié C, Oussalah A, Guéant JL, Leheup B, Bonnet C, Anheim M, Tranchant C, Lambert L, Chelly J, Koenig M, Renaud M. Ravel JM, et al. Among authors: renaud m. J Neurol. 2021 May;268(5):1927-1937. doi: 10.1007/s00415-020-10348-x. Epub 2021 Jan 8. J Neurol. 2021. PMID: 33417001
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Courraud J, Chater-Diehl E, Durand B, Vincent M, Del Mar Muniz Moreno M, Boujelbene I, Drouot N, Genschik L, Schaefer E, Nizon M, Gerard B, Abramowicz M, Cogné B, Bronicki L, Burglen L, Barth M, Charles P, Colin E, Coubes C, David A, Delobel B, Demurger F, Passemard S, Denommé AS, Faivre L, Feger C, Fradin M, Francannet C, Genevieve D, Goldenberg A, Guerrot AM, Isidor B, Johannesen KM, Keren B, Kibæk M, Kuentz P, Mathieu-Dramard M, Demeer B, Metreau J, Steensbjerre Møller R, Moutton S, Pasquier L, Pilekær Sørensen K, Perrin L, Renaud M, Saugier P, Rio M, Svane J, Thevenon J, Tran Mau Them F, Tronhjem CE, Vitobello A, Layet V, Auvin S, Khachnaoui K, Birling MC, Drunat S, Bayat A, Dubourg C, El Chehadeh S, Fagerberg C, Mignot C, Guipponi M, Bienvenu T, Herault Y, Thompson J, Willems M, Mandel JL, Weksberg R, Piton A. Courraud J, et al. Among authors: renaud m. Genet Med. 2021 Nov;23(11):2150-2159. doi: 10.1038/s41436-021-01263-1. Epub 2021 Aug 3. Genet Med. 2021. PMID: 34345024 Free article.
Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.
Hocquel A, Ravel JM, Lambert L, Bonnet C, Banneau G, Kol B, Tissier L, Hopes L, Meyer M, Dillier C, Michaud M, Lardin A, Kaminsky AL, Schmitt E, Liao L, Zhu F, Myriam B, Bossenmeyer-Pourié C, Verger A, Renaud M. Hocquel A, et al. Among authors: renaud m. Neurogenetics. 2022 Oct;23(4):241-255. doi: 10.1007/s10048-022-00695-4. Epub 2022 Jul 5. Neurogenetics. 2022. PMID: 35788923
Next-generation sequencing: a decisive diagnostic aid for atypical Wilson's disease.
Jardel A, Bonnet C, Frismand-Kryloff S, Ravel JM, Schmitt E, Obadia MA, Delassaux S, Bronner M, Poujois A, Renaud M. Jardel A, et al. Among authors: renaud m. J Neurol. 2022 Dec;269(12):6664-6666. doi: 10.1007/s00415-022-11270-0. Epub 2022 Jul 21. J Neurol. 2022. PMID: 35864215 No abstract available.
First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.
Ravel JM, Comel M, Wandzel M, Bronner M, Tatopoulos A, Renaud M, Lambert L, Bursztejn AC, Bonnet C. Ravel JM, et al. Among authors: renaud m. Am J Med Genet A. 2022 Nov;188(11):3343-3349. doi: 10.1002/ajmg.a.62954. Epub 2022 Aug 16. Am J Med Genet A. 2022. PMID: 35972031 Free PMC article. Review.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Becker A, Felici C, Lambert L, de Saint Martin A, Abi-Warde MT, Schaefer E, Zix C, Zamani M, Sadeghian S, Zeighami J, Seifi T, Azizimalamiri R, Shariati G, Galehdari H, Selig M, Ding C, Duerinckx S, Pirson I, Abramowicz M, Clément G, Leheup B, Jonveaux P, Lefort G, Bronner M, Renaud M, Bonnet C. Becker A, et al. Among authors: renaud m. Clin Genet. 2023 Mar;103(3):346-351. doi: 10.1111/cge.14264. Epub 2022 Dec 2. Clin Genet. 2023. PMID: 36371792 Free PMC article.
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.
Bonnet C, Pellerin D, Roth V, Clément G, Wandzel M, Lambert L, Frismand S, Douarinou M, Grosset A, Bekkour I, Weber F, Girardier F, Robin C, Cacciatore S, Bronner M, Pourié C, Dreumont N, Puisieux S, Iruzubieta P, Dicaire MJ, Evoy F, Rioux MF, Hocquel A, La Piana R, Synofzik M, Houlden H, Danzi MC, Zuchner S, Brais B, Renaud M. Bonnet C, et al. Among authors: renaud m. Sci Rep. 2023 Jun 15;13(1):9737. doi: 10.1038/s41598-023-36654-8. Sci Rep. 2023. PMID: 37322040 Free PMC article.
437 results