Associated Papers
Characterization of the genetic and clinical landscapes of DCTN1 gene in neurodegenerative diseases: a series of large case-control study.
Hou X et al.
Npj Genomic Medicine, 2025
First family with Perry syndrome from Mexico.
Flores-Lagunes L et al.
Biomedical Reports, 2024
Perry Disease: Bench to Bedside Circulation and a Team Approach.
Mishima T et al.
Biomedicines, 2024
Wild-Type DCTN1 Suppresses the Aggregation of DCTN1 Mutants Associated with Perry Disease.
Fukui Y et al.
Biological & Pharmaceutical Bulletin, 2024
Perry Disease: Expanding the Genetic Basis.
Dulski J et al.
Movement Disorders Clinical Practice, 2023
Deficiency of Perry syndrome-associated p150Glued in midbrain dopaminergic neurons leads to progressive neurodegeneration and endoplasmic reticulum abnormalities.
Yu J et al.
Npj Parkinson's Disease, 2023
Selective expression of neurodegenerative diseases-related mutant p150Glued in midbrain dopaminergic neurons causes progressive degeneration of nigrostriatal pathway.
Yu J et al.
Ageing and Neurodegenerative Diseases, 2022
Clinical, pathological and genetic characteristics of Perry disease-new cases and literature review.
Dulski J et al.
European Journal of Neurology, 2021
DCTN1 Binds to TDP-43 and Regulates TDP-43 Aggregation.
Deshimaru M et al.
International Journal of Molecular Sciences, 2021
Meta-iodobenzylguanidine myocardial scintigraphy in Perry disease.
Mishima T et al.
Parkinsonism & Related Disorders, 2021
Perry Disease: Concept of a New Disease and Clinical Diagnostic Criteria.
Tsuboi Y et al.
Journal of Movement Disorders, 2021
Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome.
Čierny M et al.
Parkinsonism & Related Disorders, 2020
Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation: a response.
Tacik P et al.
The New Zealand Medical Journal, 2020
Modeling Parkinson's Disease and Atypical Parkinsonian Syndromes Using Induced Pluripotent Stem Cells.
Mishima T et al.
International Journal of Molecular Sciences, 2018
Dynactin is involved in Lewy body pathology.
Shen C et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2018
DCTN1 F52L mutation case of Perry syndrome with progressive supranuclear palsy-like tauopathy.
Honda H et al.
Parkinsonism & Related Disorders, 2018
Establishing diagnostic criteria for Perry syndrome.
Mishima T et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
Behavioral defects in a DCTN1G71A transgenic mouse model of Perry syndrome.
Mishima T et al.
Neuroscience Letters, 2018
Neurobiology of axonal transport defects in motor neuron diseases: Opportunities for translational research?
De Vos KJ et al.
Neurobiology of Disease, 2017
Reduced orexin immunoreactivity in Perry syndrome and multiple system atrophy.
Mishima T et al.
Parkinsonism & Related Disorders, 2017
DCTN1-related neurodegeneration: Perry syndrome and beyond.
Konno T et al.
Parkinsonism & Related Disorders, 2017
Cytoplasmic aggregates of dynactin in iPSC-derived tyrosine hydroxylase-positive neurons from a patient with Perry syndrome.
Mishima T et al.
Parkinsonism & Related Disorders, 2016
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
Defining neurodegeneration on Guam by targeted genomic sequencing.
Steele JC et al.
Annals of Neurology, 2015
A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy.
Araki E et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2014
Three families with Perry syndrome from distinct parts of the world.
Tacik P et al.
Parkinsonism & Related Disorders, 2014
The genetics of Parkinson's disease: progress and therapeutic implications.
Singleton AB et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
[A case of brugada syndrome presenting with syncope transferred by ambulance to a neurosurgical hospital].
Sawamura A et al.
No Shinkei Geka. Neurological Surgery, 2010
Perry Syndrome with a Novel Mutation and a Rare Presentation: First Report from India.
Krishnan P et al.
Annals of Indian Academy of Neurology, 0