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Neuroradiological findings in GAA- FGF14 ataxia (SCA27B): more than cerebellar atrophy.
Chen S, Ashton C, Sakalla R, Clement G, Planel S, Bonnet C, Lamont P, Kulanthaivelu K, Nalini A, Houlden H, Duquette A, Dicaire MJ, Iruzubieta Agudo P, Ruiz Martinez J, Marco de Lucas E, Sutil Berjon R, Infante Ceberio J, Indelicato E, Boesch S, Synofzik M, Bender B, Danzi MC, Zuchner S, Pellerin D, Brais B, Renaud M, La Piana R. Chen S, et al. Among authors: bonnet c. medRxiv [Preprint]. 2024 May 16:2024.02.16.24302945. doi: 10.1101/2024.02.16.24302945. medRxiv. 2024. PMID: 38405699 Free PMC article. Preprint.
A common flanking variant is associated with enhanced meiotic stability of the FGF14 -SCA27B locus.
Pellerin D, Gobbo GD, Couse M, Dolzhenko E, Dicaire MJ, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Lamont PJ, Laing NG, Renaud M, Ravenscroft G, Houlden H, Synofzik M, Eberle MA, Boycott KM, Pastinen T; All of Us Long Reads Working Group; Brais B, Zuchner S, Danzi MC. Pellerin D, et al. Among authors: bonnet c. bioRxiv [Preprint]. 2023 Jun 30:2023.05.11.540430. doi: 10.1101/2023.05.11.540430. bioRxiv. 2023. PMID: 37425777 Free PMC article. Preprint.
Does Spinocerebellar ataxia 27B mimic cerebellar multiple system atrophy?
Wirth T, Bonnet C, Delvallée C, Pellerin D, Bogdan T, Clément G, Schalk A, Chanson JB, Fleury MC, Piton A, Calmels N, Namer IJ, Kremer S, Brais B, Tranchant C, Renaud M, Anheim M. Wirth T, et al. Among authors: bonnet c. J Neurol. 2024 Apr;271(4):2078-2085. doi: 10.1007/s00415-024-12182-x. Epub 2024 Jan 23. J Neurol. 2024. PMID: 38263489
Limbal stem cell therapy.
Bonnet C, Gonzalez S, Deng SX. Bonnet C, et al. Curr Opin Ophthalmol. 2024 Jul 1;35(4):309-314. doi: 10.1097/ICU.0000000000001061. Epub 2024 May 17. Curr Opin Ophthalmol. 2024. PMID: 38813737 Review.
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Mkaouar R, Riahi Z, Marrakchi J, Mezzi N, Romdhane L, Boujemaa M, Dallali H, Sayeb M, Lahbib S, Jaouadi H, Boudabbous H, Zekri L, Chargui M, Messaoud O, Elyounsi M, Kraoua I, Zaouak A, Turki I, Mokni M, Boucher S, Petit C, Giraudet F, Mbarek C, Besbes G, Halayem S, Zainine R, Turki H, Tounsi A, Bonnet C, Mrad R, Abdelhak S, Trabelsi M, Charfeddine C. Mkaouar R, et al. Among authors: bonnet c. Front Genet. 2024 Apr 22;15:1384094. doi: 10.3389/fgene.2024.1384094. eCollection 2024. Front Genet. 2024. PMID: 38711914 Free PMC article.
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.
Blanc A, Bonnet C, Wandzel M, Roth V, Duffourd Y, Safraou H, Leheup B, Muller F, D Colne J, Feillet F, Schmitt E, Castro M, Savatt J, Burcheri A, Nemos C, Philippe C, Lambert L. Blanc A, et al. Among authors: bonnet c. Am J Med Genet A. 2024 May 6:e63642. doi: 10.1002/ajmg.a.63642. Online ahead of print. Am J Med Genet A. 2024. PMID: 38711237
Activation of lysosomal iron triggers ferroptosis in cancer.
Rodriguez R, Cañeque T, Baron L, Müller S, Carmona A, Colombeau L, Versini A, Sabatier M, Sampaio J, Mishima E, Picard-Bernes A, Solier S, Zheng J, Proneth B, Thoidingjam L, Gaillet C, Grimaud L, Fraser C, Szylo K, Bonnet C, Charafe E, Ginestier C, Santofimia P, Dusetti N, Iovanna J, Sa Cunha A, Pittau G, Hammel P, Tzanis D, Bonvalot S, Watson S, Stockwell B, Conrad M, Ubellacker J. Rodriguez R, et al. Among authors: bonnet c. Res Sq [Preprint]. 2024 Apr 8:rs.3.rs-4165774. doi: 10.21203/rs.3.rs-4165774/v1. Res Sq. 2024. PMID: 38659936 Free PMC article. Preprint.
738 results