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Article

GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact.

Brain : a journal of neurology - 1 Mar 2013

Violante Inês R, Ribeiro Maria J, Edden Richard A E, Guimarães Pedro, Bernardino Inês, Rebola José, Cunha Gil, Silva Eduardo, Castelo-Branco Miguel

Abstract excerpt

Alterations in the balance between excitatory and inhibitory neurotransmission have been implicated in several neurodevelopmental disorders. Neurofibromatosis type 1 is one of the most common monogenic disorders causing cognitive deficits for which studies on a mouse model (Nfl(+/-)) proposed inc...

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PMID: 23404336
DOI: 10.1093/brain/aws368

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23404336-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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