Associated Papers
The genetics of motor neuron disease in New Zealand.
Mrkela M et al.
Journal of the Neurological Sciences, 2025
Axonopathy Underlying Amyotrophic Lateral Sclerosis: Unraveling Complex Pathways and Therapeutic Insights.
Luan T et al.
Neuroscience Bulletin, 2024
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
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
Genetics of primary lateral sclerosis.
Silani V et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020
Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation: a response.
Tacik P et al.
The New Zealand Medical Journal, 2020
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis.
McCann EP et al.
Journal of Medical Genetics, 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
Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.
Jia X et al.
Annals of Neurology, 2018
ALS Genes in the Genomic Era and their Implications for FTD.
Nguyen HP et al.
Trends in Genetics : Tig, 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
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Morgan S et al.
Brain : a Journal of Neurology, 2017
Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies.
Tey S et al.
Clinical Genetics, 2016
DCTN1 p.K56R in progressive supranuclear palsy.
Gustavsson EK et al.
Parkinsonism & Related Disorders, 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
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
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
RNA processing pathways in amyotrophic lateral sclerosis.
van Blitterswijk M et al.
Neurogenetics, 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
Genetics of sporadic amyotrophic lateral sclerosis.
Schymick JC et al.
Human Molecular Genetics, 2007
The p150 subunit of dynactin (DCTN1) gene in multiple sclerosis.
Münch C et al.
Acta Neurologica Scandinavica, 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
Genetic Spectrum of Inherited Neuropathies in India.
Sharma S et al.
Annals of Indian Academy of Neurology, 0