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Article

Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome: A novel mutation and in silico analyses.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Feb 2020

Rabbani Bahareh, Bakhshandeh Mohammad Kazem, Navaeifar Mohammad Reza, Abbaskhanian Ali, Soveizi Mahdieh, Geravandpoor Shahpour, Mahdieh Nejat

Abstract excerpt

Brown-Vialetto-Van Laere syndrome, a rare neurological disorder is due to SLC52A3 mutations. Here, the SLC52A3 protein and its mutations are in silico structurally and functionally analyzed among all the reported patients and a novel mutation is also reported. After clinical evaluations, SLC52A3 gene was sequenced and segregation analysis of the mutations was also checked. A comprehensive search was performed on...

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Identifiers

PMID: 31959559
DOI: 10.1016/j.jocn.2020.01.040

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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