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Article

Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing?

BMC neurology - 17 Apr 2024

Silva Guilherme Diogo, Mahler João Vitor, da Silva Junior Sérgio Roberto Pereira, Mendonça Leonardo Oliveira, de Sá Barreto Lima Pedro Lucas Grangeiro, Nóbrega Paulo Ribeiro, Kok Fernando, Freua Fernando

Abstract excerpt

BACKGROUND: Monogenic autoinflammatory disorders result in a diverse range of neurological symptoms in adults, often leading to diagnostic delays. Despite the significance of early detection for effective treatment, the neurological manifestations of these disorders remain inadequately recognized. METHODS: We conducted a systematic review searching Pubmed, Embase and Scopus for case reports and case series...

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Identifiers

PMID: 38632524
DOI: 10.1186/s12883-024-03621-3
PMCID: PMC11022464

Provenance

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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