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Article

C9orf72 gene repeat expansion phenotype profile of motor neurone disease in Portugal.

Journal of the neurological sciences - 15 Oct 2024

Santos Silva Cláudia, Gormicho Marta, Simão Sara, Pronto-Laborinho Ana Catarina, Alves Inês, Pinto Susana, Oliveira Santos Miguel, de Carvalho Mamede

Abstract excerpt

BACKGROUND: C9orf72 gene repeat expansion (C9RE) is the most frequent gene variant associated with amyotrophic lateral sclerosis (ALS). We aimed to study the phenotype of motor neurone disease (MND) patients with C9RE in a Portuguese cohort. METHODS: Demographical and clinical data of MND patients with (C9RE+) and without C9RE were compared. ALS al Rating Scale-Revised (ALSFRS-R) and Edinburgh Cognitive and...

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Identifiers

PMID: 39226712
DOI: 10.1016/j.jns.2024.123208

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