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Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Cortese A, et al. Among authors: kaski d. Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29. Nat Genet. 2019. PMID: 30926972 Free PMC article.
Early Diagnosis of Central Disorders Mimicking Horizontal Canal Cupulolithiasis.
Peña Navarro P, Pacheco López S, Almeida Ayerve CN, Marcos Alonso S, Serradilla López JM, Santa Cruz Ruiz S, Gómez Sánchez JC, Kaski D, Batuecas Caletrío Á. Peña Navarro P, et al. Among authors: kaski d. Brain Sci. 2023 Mar 27;13(4):562. doi: 10.3390/brainsci13040562. Brain Sci. 2023. PMID: 37190527 Free PMC article.
157 results