Associated Papers
DCTN1-associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy.
Lee B et al.
Journal of Neuromuscular Diseases, 2025
Axonopathy Underlying Amyotrophic Lateral Sclerosis: Unraveling Complex Pathways and Therapeutic Insights.
Luan T et al.
Neuroscience Bulletin, 2024
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Common mechanisms underlying axonal transport deficits in neurodegenerative diseases: a mini review.
Yang X et al.
Frontiers in Molecular Neuroscience, 2023
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
Multiple roles for the cytoskeleton in ALS.
Liu X et al.
Experimental Neurology, 2022
Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.
Shepheard SR et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
DCTN1 Binds to TDP-43 and Regulates TDP-43 Aggregation.
Deshimaru M et al.
International Journal of Molecular Sciences, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation: a response.
Tacik P et al.
The New Zealand Medical Journal, 2020
The NGS technology for the identification of genes associated with the ALS. A systematic review.
Pecoraro V et al.
European Journal of Clinical Investigation, 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
Dynactin1 depletion leads to neuromuscular synapse instability and functional abnormalities.
Bercier V et al.
Molecular Neurodegeneration, 2019
Comparison of the clinical and genetic features of amyotrophic lateral sclerosis across Cuban, Uruguayan and Irish clinic-based populations.
Ryan M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.
Mehta PR et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Neurobiology of axonal transport defects in motor neuron diseases: Opportunities for translational research?
De Vos KJ et al.
Neurobiology of Disease, 2017
DCTN1-related neurodegeneration: Perry syndrome and beyond.
Konno T et al.
Parkinsonism & Related Disorders, 2017
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Morgan S et al.
Brain : a Journal of Neurology, 2017
DCTN1 gene analysis in Chinese patients with sporadic amyotrophic lateral sclerosis.
Liu X et al.
Plos One, 2017
Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies.
Tey S et al.
Clinical Genetics, 2016
Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system.
Liu ZJ et al.
Neurobiology of Aging, 2014
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
Kenna KP et al.
Journal of Medical Genetics, 2013
Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.
Kenna KP et al.
Human Mutation, 2013
The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.
Stockmann M et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2013
Dynactin mutations and promises for neurodegenerative pathology.
Stein RA
Clinical Genetics, 2009
Characterization of DCTN1 genetic variability in neurodegeneration.
Vilariño-Güell C et al.
Neurology, 2009
Regulation of dynactin through the differential expression of p150Glued isoforms.
Dixit R et al.
The Journal of Biological Chemistry, 2008
Genetics of sporadic amyotrophic lateral sclerosis.
Schymick JC et al.
Human Molecular Genetics, 2007
Transgenic mice with human mutant genes causing Parkinson's disease and amyotrophic lateral sclerosis provide common insight into mechanisms of motor neuron selective vulnerability to degeneration.
Martin LJ
Reviews in the Neurosciences, 2007
Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene.
Andersen PM
Current Neurology and Neuroscience Reports, 2006
Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.
Münch C et al.
Neurology, 2004