Associated Papers
DCTN1-associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy.
Lee B et al.
Journal of Neuromuscular Diseases, 2025
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation: a response.
Tacik P et al.
The New Zealand Medical Journal, 2020
New phenotype of DCTN1-related spectrum: early-onset dHMN plus congenital foot deformity.
Tian WT et al.
Annals of Clinical and Translational Neurology, 2020
ALS Genes in the Genomic Era and their Implications for FTD.
Nguyen HP et al.
Trends in Genetics : Tig, 2018
DCTN1-related neurodegeneration: Perry syndrome and beyond.
Konno T et al.
Parkinsonism & Related Disorders, 2017
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).
Lattante S et al.
Trends in Genetics : Tig, 2015
Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.
Cady J et al.
Annals of Neurology, 2015
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