Associated Papers
Current advances in the clinical management of Perry syndrome: is there hope for the future?
Chmiela T et al.
Expert Review of Neurotherapeutics, 2026
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
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
Perry Syndrome with Intrafamilial Heterogeneity in Presentation and Survival Including Acute Respiratory Failure: Case Series.
Boardman J et al.
Movement Disorders Clinical Practice, 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
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
New phenotype of DCTN1-related spectrum: early-onset dHMN plus congenital foot deformity.
Tian WT et al.
Annals of Clinical and Translational Neurology, 2020
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
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
Defining neurodegeneration on Guam by targeted genomic sequencing.
Steele JC et al.
Annals of Neurology, 2015
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
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
Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician.
Sheerin UM et al.
Movement Disorders Clinical Practice, 2014
P150glued-associated disorders are caused by activation of intrinsic apoptotic pathway.
Ishikawa K et al.
Plos One, 2014
Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases.
Lipka J et al.
Biochemical Society Transactions, 2013
Dynactin subunit p150(Glued) is a neuron-specific anti-catastrophe factor.
Lazarus JE et al.
Plos Biology, 2013
The genetics of Parkinson's disease: progress and therapeutic implications.
Singleton AB et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
Dynactin is required for transport initiation from the distal axon.
Moughamian AJ et al.
Neuron, 2012
Autonomic failures in Perry syndrome with DCTN1 mutation.
Ohshima S et al.
Parkinsonism & Related Disorders, 2010
Disease-associated mutations in the p150(Glued) subunit destabilize the CAP-gly domain.
Ahmed S et al.
Biochemistry, 2010
[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
Elucidating the genetics and pathology of Perry syndrome.
Wider C et al.
Journal of the Neurological Sciences, 2010
DCTN1 mutations are implicated in multiple neurodegenerative disorders.
Uribe V
Clinical Genetics, 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