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Page 1
Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.
Pellerin D, Méreaux JL, Boluda S, Danzi MC, Dicaire MJ, Davoine CS, Genis D, Spurdens G, Ashton C, Hammond JM, Gerhart BJ, Chelban V, Le PU, Safisamghabadi M, Yanick C, Lee H, Nageshwaran SK, Matos-Rodrigues G, Jaunmuktane Z, Petrecca K, Akbarian S, Nussenzweig A, Usdin K, Renaud M, Bonnet C, Ravenscroft G, Saporta MA, Napierala JS, Houlden H, Deveson IW, Napierala M, Brice A, Molina Porcel L, Seilhean D, Zuchner S, Durr A, Brais B. Pellerin D, et al. Among authors: davoine cs. Brain. 2024 Oct 8:awae312. doi: 10.1093/brain/awae312. Online ahead of print. Brain. 2024. PMID: 39378335
A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking.
Bangratz M, Sarrazin N, Devaux J, Zambroni D, Echaniz-Laguna A, René F, Boërio D, Davoine CS, Fontaine B, Feltri ML, Benoit E, Nicole S. Bangratz M, et al. Among authors: davoine cs. Am J Pathol. 2012 May;180(5):2040-55. doi: 10.1016/j.ajpath.2012.01.035. Epub 2012 Mar 23. Am J Pathol. 2012. PMID: 22449950 Free PMC article.
Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.
Dürr A, Davoine CS, Paternotte C, von Fellenberg J, Cogilinicean S, Coutinho P, Lamy C, Bourgeois S, Prud'homme JF, Penet C, Mas JL, Burgunder JM, Hazan J, Weissenbach J, Brice A, Fontaine B. Dürr A, et al. Among authors: davoine cs. Brain. 1996 Oct;119 ( Pt 5):1487-96. doi: 10.1093/brain/119.5.1487. Brain. 1996. PMID: 8931574
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Coutelier M, Coarelli G, Monin ML, Konop J, Davoine CS, Tesson C, Valter R, Anheim M, Behin A, Castelnovo G, Charles P, David A, Ewenczyk C, Fradin M, Goizet C, Hannequin D, Labauge P, Riant F, Sarda P, Sznajer Y, Tison F, Ullmann U, Van Maldergem L, Mochel F, Brice A, Stevanin G, Durr A; SPATAX network. Coutelier M, et al. Among authors: davoine cs. Brain. 2017 Jun 1;140(6):1579-1594. doi: 10.1093/brain/awx081. Brain. 2017. PMID: 28444220
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A; Spastic Paraplegia and Ataxia Network. Coutelier M, et al. Among authors: davoine cs. JAMA Neurol. 2018 May 1;75(5):591-599. doi: 10.1001/jamaneurol.2017.5121. JAMA Neurol. 2018. PMID: 29482223 Free PMC article.
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, Mochel F, Ollagnon-Roman E, D'Hooghe M, Kamm C, Kurzwelly D, Papin M, Davoine CS, Banneau G, Tezenas du Montcel S, Seilhean D, Brice A, Duyckaerts C, Stevanin G, Durr A. Coarelli G, et al. Among authors: davoine cs. Neurology. 2019 Jun 4;92(23):e2679-e2690. doi: 10.1212/WNL.0000000000007606. Epub 2019 May 8. Neurology. 2019. PMID: 31068484 Free PMC article.
Response to Park et al.
Barbier M, Davoine CS, Brice A, Durr A. Barbier M, et al. Among authors: davoine cs. Genet Med. 2021 Jun;23(6):1173-1174. doi: 10.1038/s41436-021-01105-0. Epub 2021 Feb 24. Genet Med. 2021. PMID: 33627829 Free PMC article. No abstract available.
40 results