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Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis

INTRODUCTION: Spinocerebellar ataxia type-12 (SCA12) is a rare form of SCA, most commonly reported from the Indian Agarwal and related families. In this study we describe the clinical, genetic, and radiological characteristics of a sizeable cohort of genetically proven SCA12. METHODS: A retrospectiv...

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Detalles Bibliográficos
Autores principales: Ganaraja, Valakunja Harikrishna, Holla, Vikram V., Stezin, Albert, Kamble, Nitish, Yadav, Ravi, Purushottam, Meera, Jain, Sanjeev, Pal, Pramod Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9029677/
https://www.ncbi.nlm.nih.gov/pubmed/35531119
http://dx.doi.org/10.5334/tohm.686