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POLR3A-related spastic ataxia: new mutations and a look into the phenotype |
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| Authors: | Infante Jon Serrano-Cárdenas Karla M Corral‐Juan Marc Farré Xavier Sánchez Ivelisse de Lucas Enrique M García Antonio Martín-Gurpegui José Luis Berciano José Matilla-Dueñas Antoni |
| Institution: | 1.Service of Neurology, “Centro de Investigación Biomédica en Red de Enfermedades, Neurodegenerativas (CIBERNED)”, University Hospital “Marqués de Valdecilla (IDIVAL)”, University of Cantabria, 39008, Santander, Spain ;2.Neurogenetics Laboratory, Functional and Translational Neurogenetics Unit, Department of Neuroscience, Germans Trias i Pujol Research Institute (IGTP), Universitat Autònoma de Barcelona-Can Ruti Campus, Badalona, Barcelona, Spain ;3.Radiology Department, Neuroradiology Section, University Hospital Marqués de Valdecilla, Santander, Spain ;4.Service of Clinical Neurophysiology, “Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)”, University Hospital “Marqués de Valdecilla (IDIVAL)”, Santander, Spain ; |
| Abstract: | Journal of Neurology - Adolescent-onset spastic ataxia is a proposed novel phenotype in compound heterozygous carriers of an intronic mutation (c.1909?+?22G?>?A) in... |
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