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Genetic diagnosis of basal ganglia disease in childhood.

Developmental medicine and child neurology - 1 Jun 2022

Baide-Mairena Heidy, Marti-Sánchez Laura, Marcé-Grau Anna, Cazurro-Gutiérrez Ana, Sanchez-Montanez Angel, Delgado Ignacio, Moreno-Galdó Antonio, Macaya-Ruiz Alfons, García-Arumí Elena, Pérez-Dueñas Belén

Abstract excerpt

AIM: To correlate clinical, radiological, and biochemical features with genetic findings in children with bilateral basal ganglia lesions of unknown aetiology, and propose a diagnostic algorithm for early recognition. METHOD: Children with basal ganglia disease were recruited in a 2-year prospective multicentre study for clinical, biomarker, and genetic studies. Radiological pattern recognition was examined by...

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PMID: 34988976
DOI: 10.1111/dmcn.15125

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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