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Article

Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.

International journal of molecular sciences - 15 Mar 2021

Ching-López Ana, Martinez-Gonzalez Luis Javier, Arrabal Luisa, Sáiz Jorge, Gavilán Ángela, Barbas Coral, Lorente Jose Antonio, Roldán Susana, Sánchez Maria José, Gutierrez-Ríos Purificacion

Abstract excerpt

Ataxia in children is a common clinical sign of numerous neurological disorders consisting of impaired coordination of voluntary muscle movement. Its most common form, cerebellar ataxia, describes a heterogeneous array of neurologic conditions with uncountable causes broadly divided as acquired or genetic. Numerous genetic disorders are associated with chronic progressive ataxia, which complicates clinical...

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PMID: 33804237
DOI: 10.3390/ijms22062990
PMCID: PMC8002209

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