Associated Papers
Novel Variants in DCTN1 Associated with Perry Disease: A Case Series from a Chinese Parkinsonism Cohort.
Zhang Y et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
Current advances in the clinical management of Perry syndrome: is there hope for the future?
Chmiela T et al.
Expert Review of Neurotherapeutics, 2026
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 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
DCTN1 mutation associated parkinsonism: case series of three new families with perry syndrome.
Stoker TB et al.
Journal of Neurology, 2022
Perry Syndrome with Intrafamilial Heterogeneity in Presentation and Survival Including Acute Respiratory Failure: Case Series.
Boardman J et al.
Movement Disorders Clinical Practice, 2022
L-Dopa response, choreic dyskinesia, and dystonia in Perry syndrome.
Dulski J et al.
Parkinsonism & Related Disorders, 2022
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
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
Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.
Wittke C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Dynein-dynactin segregate meiotic chromosomes in C. elegans spermatocytes.
Barbosa DJ et al.
Development (cambridge, England), 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
DCTN1-related Parkinson-plus disorder (Perry syndrome).
Richardson D et al.
Practical Neurology, 2020
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
Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation.
McManus EJ 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
Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.
Tan MMX et al.
Brain : a Journal of Neurology, 2019
Modeling Parkinson's Disease and Atypical Parkinsonian Syndromes Using Induced Pluripotent Stem Cells.
Mishima T et al.
International Journal of Molecular Sciences, 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
Reduced orexin immunoreactivity in Perry syndrome and multiple system atrophy.
Mishima T et al.
Parkinsonism & Related Disorders, 2017
Perry Syndrome: A Distinctive Type of TDP-43 Proteinopathy.
Mishima T et al.
Journal of Neuropathology and Experimental Neurology, 2017
DCTN1-related neurodegeneration: Perry syndrome and beyond.
Konno T et al.
Parkinsonism & Related Disorders, 2017
Reduced TDP-43 Expression Improves Neuronal Activities in a Drosophila Model of Perry Syndrome.
Hosaka Y et al.
Ebiomedicine, 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
Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system.
Liu ZJ et al.
Neurobiology of Aging, 2014
Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.
Couthouis J et al.
Plos Genetics, 2014
Dynactin functions as both a dynamic tether and brake during dynein-driven motility.
Ayloo S et al.
Nature Communications, 2014
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
In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers.
Felicio AC 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
Expansion of the clinicopathological and mutational spectrum of Perry syndrome.
Chung EJ et al.
Parkinsonism & Related Disorders, 2014
Latin America's first case of Perry syndrome and a new treatment option for respiratory insufficiency.
Pretelt F et al.
Journal of Neurology, 2014
P150glued-associated disorders are caused by activation of intrinsic apoptotic pathway.
Ishikawa K et al.
Plos One, 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
Vertical supranuclear gaze palsy in Niemann-Pick type C disease.
Salsano E et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2012
Dynactin is required for transport initiation from the distal axon.
Moughamian AJ et al.
Neuron, 2012