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The phenotype of ALS patients carrying DHTKD1 variants partially overlapped with CMT and SMA by presence of sensory impairment and a higher frequency of LMN-predominant cases. Our results argue towards rare heterozygous DHTKD1 variants as potential contributors to ALS phenotype and, possibly, pathogenesis.
Dec 29, 2021
Dec 29, 2021 · Our results argue towards rare heterozygous DHTKD1 variants as potential contributors to ALS phenotype and, possibly, pathogenesis.
Dec 23, 2021 · The phenotype of ALS patients carrying DHTKD1 variants partially overlapped with CMT and SMA by presence of sensory impairment and a higher ...
Nonsense variants located in the E1_dh domain were significantly more prevalent in ALS patients versus controls. The phenotype of ALS patients carrying DHTKD1 ...
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html. Skapa Stäng. Rare heterozygous DHTKD1 variants in patients with amyotrophic lateral sclerosis. Gogol, I. Osmanovic, A. Martens, H. Widjaja, M.
Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients · Genetic overlap between ALS and other neurodegenerative or ...
The phenotype of ALS patients carrying DHTKD1 variants partially overlapped with CMT and SMA by presence of sensory impairment and a higher frequency of LMN- ...
Apr 18, 2024 · Clinical exome sequencing revealed a heterozygous nonsense variant in exon 8 of the DHTKD1 gene, which was previously described in CMT2Q. This ...
27 ALS patients, rare heterozygous variants in the DHTKD1 gene were recurrently identified, including one nonsense variant. DHTKD1 encodes a dehydrogenase ...
D91A is one of the most common ALS-causing SOD1 mutations and is known to be either recessive or dominant. The homozygous phenotype is characterized by ...