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Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Genet Med. 2021 Oct;23(10):2021. doi: 10.1038/s41436-020-01064-y.
Genet Med. 2021.
PMID: 33353973
Free article.
No abstract available.
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Roux T, Barbier M, Papin M, Davoine CS, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C, Goizet C, Klebe S, Lohmann E, Van Maldergem L, van Broeckhoven C, Coutelier M, Tesson C, Stevanin G, Duyckaerts C, Brice A, Durr A; SPATAX network.
Roux T, et al.
Genet Med. 2020 Nov;22(11):1851-1862. doi: 10.1038/s41436-020-0899-x. Epub 2020 Jul 27.
Genet Med. 2020.
PMID: 32713943
Free article.
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Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
Parodi L, Fenu S, Barbier M, Banneau G, Duyckaerts C, Tezenas du Montcel S, Monin ML, Ait Said S, Guegan J, Tallaksen CME, Sablonniere B, Brice A, Stevanin G, Depienne C, Durr A; SPATAX network.
Parodi L, et al.
Brain. 2018 Dec 1;141(12):3331-3342. doi: 10.1093/brain/awy285.
Brain. 2018.
PMID: 30476002
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DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.
Bettencourt C, Hensman-Moss D, Flower M, Wiethoff S, Brice A, Goizet C, Stevanin G, Koutsis G, Karadima G, Panas M, Yescas-Gómez P, García-Velázquez LE, Alonso-Vilatela ME, Lima M, Raposo M, Traynor B, Sweeney M, Wood N, Giunti P; SPATAX Network; Durr A, Holmans P, Houlden H, Tabrizi SJ, Jones L.
Bettencourt C, et al.
Ann Neurol. 2016 Jun;79(6):983-90. doi: 10.1002/ana.24656. Epub 2016 May 6.
Ann Neurol. 2016.
PMID: 27044000
Free PMC article.
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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.
Brain. 2017 Jun 1;140(6):1579-1594. doi: 10.1093/brain/awx081.
Brain. 2017.
PMID: 28444220
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