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Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Mar 2014

Bandettini Di Poggio Monica, Monti Bragadin Margherita, Reni Lizia, Doria-Lamba Laura, Cereda Cristina, Pardini Matteo, Roccatagliata Luca, Rossi Andrea, Schenone Angelo

Abstract excerpt

The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder characterized by progressive pontobulbar palsy, sensorineural deafness and mixed spinal and upper motor neuropathy. Mutations in the C20orf54 gene have been linked to the disease and recently we reported the first Itali...

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Source

Identifiers

PMID: 24079556
DOI: 10.3109/21678421.2013.837931

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24079556-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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