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A recessive ataxia diagnosis algorithm for the next generation sequencing era.
Renaud M, Tranchant C, Martin JVT, Mochel F, Synofzik M, van de Warrenburg B, Pandolfo M, Koenig M, Kolb SA, Anheim M; RADIAL Working Group. Renaud M, et al. Ann Neurol. 2017 Dec;82(6):892-899. doi: 10.1002/ana.25084. Epub 2017 Nov 21. Ann Neurol. 2017. PMID: 29059497
Clinical and paraclinical features of patients are entered into the algorithm, and a patient's total score for each autosomal recessive cerebellar ataxia is calculated, producing a ranking of possible diagnoses. ...
Clinical and paraclinical features of patients are entered into the algorithm, and a patient's total score for each autosomal recessi …
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
Choquet K, Tétreault M, Yang S, La Piana R, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA; Care4Rare Canada Consortium, Boycott KM, Majewski J, Brais B. Choquet K, et al. Eur J Hum Genet. 2016 Jul;24(7):1016-21. doi: 10.1038/ejhg.2015.240. Epub 2015 Dec 2. Eur J Hum Genet. 2016. PMID: 26626314 Free PMC article.