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
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
Wild-Type DCTN1 Suppresses the Aggregation of DCTN1 Mutants Associated with Perry Disease.
Fukui Y et al.
Biological & Pharmaceutical Bulletin, 2024
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
A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family.
Zhang J et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation: a response.
Tacik P et al.
The New Zealand Medical Journal, 2020
Dynactin1 depletion leads to neuromuscular synapse instability and functional abnormalities.
Bercier V et al.
Molecular Neurodegeneration, 2019
Genetics of Amyotrophic Lateral Sclerosis.
Ghasemi M et al.
Cold Spring Harbor Perspectives in Medicine, 2018
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
Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies.
Tey S et al.
Clinical Genetics, 2016
Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering.
Daud D et al.
Journal of Neurology, 2015
Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system.
Liu ZJ et al.
Neurobiology of Aging, 2014
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
Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia.
Fecto F et al.
Journal of Molecular Neuroscience : Mn, 2011
Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia.
Cao L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2010
Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.
Newsway V et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2010
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
Cognitive impairment in amyotrophic lateral sclerosis.
Phukan J et al.
The Lancet. Neurology, 2007
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
Recent advances in the genetics of amyotrophic lateral sclerosis and frontotemporal dementia: common pathways in neurodegenerative disease.
Talbot K et al.
Human Molecular Genetics, 2006
The relationship between amyotrophic lateral sclerosis and frontotemporal dementia.
Ringholz GM et al.
Current Neurology and Neuroscience Reports, 2006
Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene.
Andersen PM
Current Neurology and Neuroscience Reports, 2006
Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.
Münch C et al.
Annals of Neurology, 2005
The neuropathology of FTD associated With ALS.
Mackenzie IR
Alzheimer Disease and Associated Disorders, 0