Associated Papers
A novel DHTKD1 gene mutation with ALS like presentation: a case report.
Menon D et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024
The Therapeutic Potential of Vitamins B1, B3 and B6 in Charcot-Marie-Tooth Disease with the Compromised Status of Vitamin-Dependent Processes.
Bunik V
Biology, 2023
Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.
Osmanovic A et al.
Genes, 2021
Atypical presentation of Charcot-Marie-Tooth disease type 2Q by mutations on DHTKD1 and NTRK2 genes.
Castro-Coyotl DM et al.
Boletin Medico Del Hospital Infantil De Mexico, 2021
CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model.
Luan CJ et al.
Acta Neuropathologica Communications, 2020
A Chinese pedigree with a novel mutation in GJB1 gene and a rare variation in DHTKD1 gene for diverse Charcot‑Marie‑Tooth diseases.
Zhao ZH et al.
Molecular Medicine Reports, 2019
Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis.
Sherrill JD et al.
Jci Insight, 2018
New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria.
Stiles AR et al.
Jimd Reports, 2016
A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.
Xu WY et al.
American Journal of Human Genetics, 2012
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