Aportando luz en la oscuridad: ataxia cerebelosa autosómica recesiva por mutación en el gen SEPSECS
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical)
Reference7 articles.
1. The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force;Beaudin;Cerebellum,2019
2. Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia;Arias;Neurologia,2019
3. Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain;Arias;Neurologia,2019
4. A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia;van Dijk;J Inherit Metab Dis,2018
5. A new mutation in the SEPSECS gene related to pontocerebellar hypoplasia type 2D;Arrudi-Moreno;Med Clin (Barc),2019
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