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Brain : a Journal of Neurology|October 26, 2020
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS familiesCarolin K Scriba, Sarah J Beecroft, Joshua S Clayton, et al.Acta Neuropathologica|October 20, 2022
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failureConrad C Weihl, Ana Töpf, Rocio Bengoechea, et al.Brain : a Journal of Neurology|February 11, 2020
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansionAndrea Cortese, Stefano Tozza, Wai Yan Yau, et al.Nature Communications|July 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryAndrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.Pageof 2