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Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS).
Palones E, Curto E, Plaza V, Gonzalez-Quereda L, Segarra-Casas A, Querol L, Bertoletti F, Rodriguez MJ, Gallano P, Crespo-Lessmann A. Palones E, et al. J Neurol. 2024 Mar;271(3):1204-1212. doi: 10.1007/s00415-023-12001-9. Epub 2023 Nov 2. J Neurol. 2024. PMID: 37917234 Free PMC article.
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.
Segarra-Casas A, Iruzubieta P, Kapetanovic S, Hernández-Laín A, Jericó I, Fernández-Torrón R, Maneiro M, Marco-Moreno P, Zelaya-Huerta MV, Rodríguez-Santiago B, Calafell F, Töpf A, Straub V, Vallejo-Illarramendi A, López de Munain A, Gallano P, Gonzalez-Quereda L. Segarra-Casas A, et al. Eur J Neurol. 2025 Jan;32(1):e16471. doi: 10.1111/ene.16471. Eur J Neurol. 2025. PMID: 39742415 Free PMC article.