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Article

Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.

Journal of neuromuscular diseases - 1 Jan 2024

Baumgartner Daniel, Mušová Zuzana, Zídková Jana, Hedvičáková Petra, Vlčková Eva, Joppeková Lubica, Kramářová Tereza, Fajkusová Lenka, Stránecký Viktor, Geryk Jan, Votýpka Pavel, Mazanec Radim

Abstract excerpt

Background: Genetic factors are involved in the pathogenesis of familial and sporadic amyotrophic lateral sclerosis (ALS) and constitute a link to its association with frontotemporal dementia (FTD). Gene-targeted therapies for some forms of ALS (C9orf72, SOD1) have recently gained momentum. Genetic architecture in Czech ALS patients has not been comprehensively assessed so far. Objective: We aimed to deliver...

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Age of Onset
Amyotrophic Lateral Sclerosis
C9orf72 Protein
Czech Republic
DNA Repeat Expansion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Frontotemporal Dementia

Protein Serine-Threonine Kinases

RNA-Binding Protein FUS

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Identifiers

PMID: 39058450
DOI: 10.3233/JND-230236
PMCID: PMC11380243

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