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Article

Quadruple genetic variants in a sporadic ALS patient.

Molecular genetics & genomic medicine - 1 Jul 2022

Yilmaz Rüstem, Weishaupt Kanchi, Valkadinov Ivan, Knehr Antje, Brenner David, Weishaupt Jochen H

Abstract excerpt

OBJECTIVES: Due to upcoming gene-specific therapy approaches for ALS patients, understanding familial and sporadic ALS genetics is becoming increasingly important. In this study, we wanted to investigate underlying genetic causes for an SALS patient. METHODS: We performed ALS gene panel sequencing and subsequent segregation analysis in the family. RESULTS: Genetic studies suggest that a proportion of SALS cases...

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Identifiers

PMID: 35426263
DOI: 10.1002/mgg3.1953
PMCID: PMC9266611

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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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