Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy

Cerebellar atrophy (CA) is a frequent neuroimaging finding in paediatric neurology, usually associated with cerebellar ataxia. The list of genes involved in hereditary forms of CA is continuously growing and reveals its genetic complexity. We investigated ten cases with early-onset cerebellar involv...

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Bibliographic Details
Main Authors: Dolores Martínez-Rubio, Isabel Hinarejos, Herminia Argente-Escrig, Clara Marco-Marín, María Ana Lozano, Nerea Gorría-Redondo, Vincenzo Lupo, Itxaso Martí-Carrera, Concepción Miranda, María Vázquez-López, Asunción García-Pérez, Ana Victoria Marco-Hernández, Miguel Tomás-Vila, Sergio Aguilera-Albesa, Carmen Espinós
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:International Journal of Molecular Sciences
Subjects:
ataxia
cerebellar atrophy
rare disease
neuroimaging
exome sequencing
gene panel
Online Access:https://www.mdpi.com/1422-0067/24/22/16400

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https://www.mdpi.com/1422-0067/24/22/16400

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