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Article

Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.

Genes - 29 Dec 2021

Osmanovic Alma, Gogol Isabel, Martens Helge, Widjaja Maylin, Müller Kathrin, Schreiber-Katz Olivia, Feuerhake Friedrich, Langhans Claus-Dieter, Schmidt Gunnar, Andersen Peter M, Ludolph Albert C, Weishaupt Jochen H, Brand Frank, Petri Susanne, Weber Ruthild G

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by progressive upper and lower motor neuron (LMN) loss. As ALS and other neurodegenerative diseases share genetic risk factors, we performed whole-exome sequencing in ALS patients focusing our analysis on genes implicated in neurodegeneration. Thus, variants in the DHTKD1 gene encoding dehydrogenase E1 and transketolase domain...

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Identifiers

PMID: 35052424
DOI: 10.3390/genes13010084
PMCID: PMC8774751

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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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