Heterozygous <i>DHTKD1</i> Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients

Heterozygous <i>DHTKD1</i> Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients

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 i...

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Bibliographic Details
Main Authors: Alma Osmanovic, Isabel Gogol, Helge Martens, Maylin Widjaja, Kathrin Müller, Olivia Schreiber-Katz, Friedrich Feuerhake, Claus-Dieter Langhans, Gunnar Schmidt, Peter M. Andersen, Albert C. Ludolph, Jochen H. Weishaupt, Frank Brand, Susanne Petri, Ruthild G. Weber
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:Genes
Subjects:
amyotrophic lateral sclerosis
<i>DHTKD1</i>
neurodegeneration
Charcot-Marie-Tooth disease type 2
2-aminoadipic and 2-oxoadipic aciduria
lower motor neuron
Online Access:https://www.mdpi.com/2073-4425/13/1/84

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https://www.mdpi.com/2073-4425/13/1/84

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