Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia

Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia

Hereditary cerebellar ataxia (HCA) comprises a clinical and genetic heterogeneous group of neurodegenerative disorders characterized by incoordination of movement, speech, and unsteady gait. In this study, we performed whole-exome sequencing (WES) in 19 families with HCA and presumed autosomal reces...

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Bibliographic Details
Main Authors: Mariana Santos, Joana Damásio, Susana Carmona, João Luís Neto, Nadia Dehghani, Leonor Correia Guedes, Clara Barbot, José Barros, José Brás, Jorge Sequeiros, Rita Guerreiro
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Cells
Subjects:
cerebellar ataxia
recessive ataxia
exome sequencing
molecular mechanisms
de novo variant
Online Access:https://www.mdpi.com/2073-4409/11/6/981

Internet

https://www.mdpi.com/2073-4409/11/6/981

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