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New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.
Clin Genet. 2023 Feb;103(2):236-241. doi: 10.1111/cge.14249. Epub 2022 Nov 3.
Clin Genet. 2023.
PMID: 36250766
Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis.
Cantero D, Hernández-Laín A, Martínez JFG, Pérez MR, Ruano Y, Lleixà C, Gallardo E, Domínguez-González C.
Cantero D, et al. Among authors: martinez jfg.
J Neurol Sci. 2018 Nov 15;394:63-67. doi: 10.1016/j.jns.2018.08.026. Epub 2018 Sep 5.
J Neurol Sci. 2018.
PMID: 30218921
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Calibration of oscillation amplitude in dynamic scanning force microscopy.
Martínez JF, Nieto-Carvajal I, Colchero J.
Martínez JF, et al.
Nanotechnology. 2013 May 10;24(18):185701. doi: 10.1088/0957-4484/24/18/185701. Epub 2013 Apr 10.
Nanotechnology. 2013.
PMID: 23575449
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