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Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
Barbier M, Davoine CS, Petit E, Porché M, Guillot-Noel L, Sayah S, Fauret AL, Neau JP, Guyant-Maréchal L, Deffond D, Tranchant C, Goizet C, Coarelli G, Castrioto A, Klebe S, Ewenczyk C, Heinzmann A, Charles P, Tchikviladzé M, Van Broeckhoven C, Brice A, Durr A. Barbier M, et al. Among authors: coarelli g. Genet Med. 2023 Feb;25(2):100327. doi: 10.1016/j.gim.2022.10.009. Epub 2022 Nov 23. Genet Med. 2023. PMID: 36422518 Free article.
Methylation-dependent PAD2 upregulation in multiple sclerosis peripheral blood.
Calabrese R, Zampieri M, Mechelli R, Annibali V, Guastafierro T, Ciccarone F, Coarelli G, Umeton R, Salvetti M, Caiafa P. Calabrese R, et al. Among authors: coarelli g. Mult Scler. 2012 Mar;18(3):299-304. doi: 10.1177/1352458511421055. Epub 2011 Aug 30. Mult Scler. 2012. PMID: 21878453
Low cancer prevalence in polyglutamine expansion diseases.
Coarelli G, Diallo A, Thion MS, Rinaldi D, Calvas F, Boukbiza OL, Tataru A, Charles P, Tranchant C, Marelli C, Ewenczyk C, Tchikviladzé M, Monin ML, Carlander B, Anheim M, Brice A, Mochel F, Tezenas du Montcel S, Humbert S, Durr A. Coarelli G, et al. Neurology. 2017 Mar 21;88(12):1114-1119. doi: 10.1212/WNL.0000000000003725. Epub 2017 Feb 15. Neurology. 2017. PMID: 28202696
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: coarelli g. Brain. 2017 Jun 1;140(6):1579-1594. doi: 10.1093/brain/awx081. Brain. 2017. PMID: 28444220
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. Neurology. 2019 Jun 4;92(23):e2679-e2690. doi: 10.1212/WNL.0000000000007606. Epub 2019 May 8. Neurology. 2019. PMID: 31068484 Free PMC article.
Retrospective Observational Study of Brain MRI Findings in Patients with Acute SARS-CoV-2 Infection and Neurologic Manifestations.
Chougar L, Shor N, Weiss N, Galanaud D, Leclercq D, Mathon B, Belkacem S, Ströer S, Burrel S, Boutolleau D, Demoule A, Rosso C, Delorme C, Seilhean D, Dormont D, Morawiec E, Raux M, Demeret S, Gerber S, Trunet S, Similowski T, Degos V, Rufat P, Corvol JC, Lehéricy S, Pyatigorskaya N; CoCo Neurosciences Study Group. Chougar L, et al. Radiology. 2020 Dec;297(3):E313-E323. doi: 10.1148/radiol.2020202422. Epub 2020 Jul 17. Radiology. 2020. PMID: 32677875 Free PMC article.
76 results