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Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia.
Clément G, Puisieux S, Pellerin D, Brais B, Bonnet C, Renaud M. Clément G, et al. Among authors: brais b. Rev Neurol (Paris). 2024 Apr 11:S0035-3787(24)00486-7. doi: 10.1016/j.neurol.2024.03.007. Online ahead of print. Rev Neurol (Paris). 2024. PMID: 38609751 Free article. Review.
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.
Pellerin D, Heindl F, Wilke C, Danzi MC, Traschütz A, Ashton C, Dicaire MJ, Cuillerier A, Del Gobbo G, Boycott KM, Claassen J, Rujescu D, Hartmann AM, Zuchner S, Brais B, Strupp M, Synofzik M. Pellerin D, et al. Among authors: brais b. EBioMedicine. 2024 Apr;102:105076. doi: 10.1016/j.ebiom.2024.105076. Epub 2024 Mar 19. EBioMedicine. 2024. PMID: 38507876 Free PMC article.
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, de Lucas EM, Berjon RS, 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: brais b. medRxiv [Preprint]. 2024 Feb 18:2024.02.16.24302945. doi: 10.1101/2024.02.16.24302945. medRxiv. 2024. PMID: 38405699 Free PMC article. Preprint.
209 results